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Case Report | DOI: https://doi.org/10.31579/2768-0487/195
Cytogenetics Lab, Cancer Biology Department, The Gujarat Cancer & Research Institute, Ahmedabad, Asarwa, Gujarat, India.
*Corresponding Author: Pina J. Trivedi., Cytogenetics Lab, Cancer Biology Department, The Gujarat Cancer & Research Institute, Ahmedabad, Asarwa, Gujarat, India.
Citation: Pina J. Trivedi, Krishna Barad, Nidhi Patel, Rashmi Oza, (2026), Cytogenetic Perspective on Paediatric AML: A Rare Case of t (1;12) (q24; q24.1) with Trisomy 21, Journal of Clinical and Laboratory Research, 9(1); DOI:10.31579/2768-0487/195
Copyright: © 2026, Pina J. Trivedi. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Received: 24 November 2025 | Accepted: 10 December 2025 | Published: 01 January 2026
Keywords: cytogenetics; fluorescence in situ hybridization; trisomy 21; acute myeloid leukemia; giemsa -banding
Chromosomal translocations, such as the rare t (1;12) (q24; q24.1), play a key role in pediatric AML by disrupting critical oncogenes like BCL9 on chromosome 1q24 and tumor suppressors such as SH2B3 on 12q24. Trisomy 21 increases leukemia risk due to overexpression of genes including RUNX1 and DYRK1A. In this case, a 3-year-old boy showed aggressive AML features with high blasts, leukocytosis, anemia, and splenomegaly. Cytogenetic analysis confirmed the t(1;12) translocation and trisomy 21, while flow cytometry revealed myeloid blasts with aberrant CD7, indicating atypical immunophenotype. The SRSF2 gene mutation (p.P95H) found in this patient impairs RNA splicing, contributing to leukemogenesis, and the IKZF1 gene plays a critical role in hematopoietic differentiation and is associated with poor prognosis when mutated. This case highlights the importance of integrated cytogenetic and molecular diagnostics for understanding complex pediatric AML and guiding precise treatment.
Chromosomal translocations form a key category of cytogenetic abnormalities leading to hematologic cancers through fusion gene formation, altered gene expression, or signalling changes that drive malignant transformation (Tomohiko Taki et al., 2006). Translocations involving chromosome 1 are among the most frequent in oncogenic activation, while chromosome 12q24 contains tumour suppressor and transcriptional regulation genes (Johansson, B. et al., 1997). Although t(1;12)(q24;q24.1) is rarely reported, genes within its breakpoints possess biological significance in leukemia (Fang, F. et al., 2022). The 1q21–1q24 region is dense with oncogenes relevant to hematologic malignancies, such as BCL9 at 1q21.2, a transcriptional coactivator promoting Wnt/β-catenin signaling (Leilei Chen et al., 2010). This pathway controls cell fate and survival, and its dysregulation is linked to multiple cancers, including leukemia. Translocations that upregulate BCL9 by juxtaposition to active regulatory elements cause oncogenic overexpression seen in several lymphoid malignancies (Song, P. et al., 2024). Elevated BCL9 augments β-catenin–mediated transcription, supports unchecked proliferation, and inhibits hematopoietic differentiation (Mani, M. et al., 2009). At 12q24.1, SH2B3 (LNK) encodes a negative regulator of cytokine signalling through the JAK-STAT pathway (Jiang, F. et al., 2016). Normally, SH2B3 restrains proliferation of hematopoietic progenitors by moderating cytokine effects like thrombopoietin and erythropoietin (Dale, B. L. et al., 2016). Its loss or mutation contributes to disorders such as MPNs, JMML, and acute Leukemia by enabling constitutive JAK-STAT signalling (Wintering, A. et al., 2024). NCOR2 (SMRT), another gene in this locus, acts as a transcriptional corepressor regulating chromatin remodeling via histone deacetylase recruitment (Privalsky, M. L. et al., 2019). Altered NCOR2 function has been linked to AML and other cancers by disturbing cell cycle and differentiation gene control (Trombly, D. J. et al., 2015). Cytogenetically, t(1;12)(q24;q24.1) can be visualized by G-banded karyotyping, while subtle rearrangements require molecular tools such as FISH and array-CGH (Peterson, J. F. et al., 2015). Probes targeting BCL9, SH2B3, or NCOR2 help confirm gene involvement, and RNA sequencing can reveal fusion transcripts (Hamid, F. et al., 2024). A BCL9–SH2B3 fusion could modify Wnt/β-catenin or JAK-STAT signalling, whereas BCL9–NCOR2 could impair chromatin repression, both potentially driving leukemic transformation (De la Roche et al., 2008; Lee, R. D. et al., 2022). Trisomy 21 results from nondisjunction producing a third chromosome 21 and causes genome-wide transcriptional imbalance (Antonarakis, S. et al., 2020). Overexpression of 21q22 genes drives Down syndrome phenotypes, with RUNX1 enhancing hematopoietic proliferation and Leukemia susceptibility (Haferlach, T. et al., 2019). DYRK1A triplication disrupts neuronal signalling and contributes to cognitive impairment (Chu, D. et al., 2024). SOD1 overexpression increases oxidative stress and premature aging (Eleutherio, E. et al., 2021), while APP upregulation promotes early amyloid deposition and Alzheimer-like pathology (Wiseman, F. et al., 2015). Additional genes such as ETS2, RCAN1, and CBS influence apoptosis and metabolism in Down syndrome (Antonarakis, S. et al., 2020). Collectively, trisomy 21 alters cellular networks governing the cell cycle, mitochondrial function, immunity, and neurodevelopment, producing a distinct molecular signature (Letourneau, A. et al., 2014).
A male child aged 3 years, presented to Paediatric Oncology Unit with suspected acute Leukemia. Peripheral smear and bone marrow study showed extreme leucocytosis, bad anaemia, thrombocytopenia, and predominant number of blast cells—up to 92% in bone marrow—establishing the diagnosis of acute leukaemia. Bone marrow aspirate was hyper cellular with inhibited erythropoiesis and megakaryocytes and positive Sudan Black B in some blasts, pointing towards myeloid lineage. Flow cytometry showed 50% marrow blasts expressing CD13, CD33, and CD117 (moderate), CD34 (dim), and aberrant CD7, while other T- and B-lineage markers were negative. These findings indicate acute myeloid leukaemia (AML) with aberrant T-cell marker expression, typically linked to poor-risk cytogenetics. Hematology revealed severe anemia (Hb 4.2–8.7 g/dL), thrombocytopenia (platelets 5–8 ×10³/µL), and leukocytosis (WBC up to 28 ×10³/µL). Serum LDH exceeded 1700 U/L, suggesting a high tumour burden. Liver and renal functions were normal, and ultrasound showed mild splenomegaly (10.3 cm) due to leukemic infiltration.
Next Generation Sequencing
A comprehensive NGS panel was performed on a whole blood sample from a 3-year-old male patient diagnosed with acute myeloid leukaemia (AML). The genomic analysis targeted multiple genes implicated in hematologic malignancies. The key findings include a pathogenic missense variant in the SRSF2 gene, p.(P95H) c.284C>A, with an allele frequency of 16.15%. This mutation is known to have adverse prognostic significance in AML according to ELN 2022 guidelines. Another missense variant in IKZF1, p.(A297S) c.889G>T, was detected with an allele frequency of 47.67%. No mutations were detected in other commonly altered genes such as FLT3, NPM1, TP53, RUNX1, and ASXL1. In summary, the patient was diagnosed with acute myeloid leukemia with immunophenotypic immaturity and aberrant expression patterns and a rare t(1;12)(q24;q24.1) translocation. The institutional review board approved the current study, and informed consent was provided by the patient.
Conventional Cytogenetics:
A G-banded chromosome analysis was conducted following a standard cytogenetic protocol. Bone marrow aspirate samples were cultured in RPMI-1640 medium enriched with 20% new-born calf serum, L-glutamine, and antibiotics (penicillin and streptomycin). The cultures were maintained at 37°C and incubated overnight with colcemid (10 μL per 8 mL of culture). Following incubation, the cells were treated with a hypotonic solution (0.075 mol/L KCl) and fixed using a methanol–acetic acid solution in a 3:1 ratio. Slides were prepared using the air-drying technique and subsequently stained using Giemsa banding. A total of 20 metaphases were examined, and karyotypes were interpreted in accordance with the International System for Human Cytogenetic Nomenclature 2020.
Whole Chromosome Painting FISH assay:
Whole Chromosome Painting (WCP) Fluorescence In Situ Hybridization (FISH) analysis was performed on metaphase spreads prepared from short-term cultured bone marrow cells. The procedure was carried out in accordance with the manufacturer’s protocol (XCP, Metasystems). Whole chromosome painting (WCP) using probes for chromosomes 1 (Orange) and 12 (Green) was carried out to confirm a suspected t(1;12) translocation. Metaphase slides were denatured at 75°C and hybridized overnight at 37°C. Post-hybridization washes ensured specificity, and chromosomes were counterstained with DAPI for nuclear visualization. Fluorescent signals were analysed under a Zeiss AXIO Imager Z2 fluorescence microscope with a CCD camera, providing precise evaluation through both conventional cytogenetic and FISH techniques.
Conventional cytogenetic analysis by GTG banding on bone marrow cells revealed a clonal chromosomal abnormality with a translocation between chromosomes 1 and 12, noted as t(1;12)(q24;q24.1) in 16 out of 20 metaphases. Four metaphases showed a normal male karyotype (46, XY), indicating the presence of both abnormal and normal clones (Figure 1). Whole chromosome painting (WCP) FISH using probes for chromosomes 1 (orange) and 12 (green) demonstrated an abnormal fusion signal pattern indicative of a t(1;12) translocation. Orange fluorescence from chromosome 1 appeared on a predominantly green chromosome 12, confirming the transfer of genetic material between these chromosomes (Figure 2). The abnormal pattern was consistently detected in all 10 analysed metaphases, supporting the presence of a recurrent t(1;12) chromosomal translocation. To confirm the Trisomy of 21 FISH technique was used in which AML_ETO probe was used. AML1 gene is Present on Chromosome 21, which was labelled, with Green Fluorochromes while ETO gene is on Chromosome 8 labelled with Fluorochromes Orange.[ In Figure 3, three green signals indicates the Trisomy 21.
Figure 1: Representative images of Conventional cytogenetic results of GTG banded karyotype showing t (1; 12) (q24; q24.1) With Trisomy 21.
Figure 2: Representative images of WCP FISH in which Chromosome 1 was labelled with Fluorochrome Orange and Chromosome 12 was labelled with Fluorochrome Green.
Figure 3: Representative image FISH in which Chromosome 21 was labelled with Fluorochromes green and Chromosome 8 with orange. 3 Green signal indicates trisomy of Chromosome 21.
Childhood acute myeloid leukaemia (AML) is a pleomorphic malignancy with a variety of clinical presentation and varied cytogenetic abnormalities. Chromosomal translocations are central to the leukemogenesis in their ability to modify the expression or function of key regulatory genes required for haematopoiesis (Meshinchi, S., et al, 2007). In children with AML, recurrent translocations including t(8;21), inv(16), and t(15;17) are highly characterized and have prognostic and therapeutic implications (Rubnitz, J. E., et al, 2012). Yet, recognition of unusual or new structural lesions like t(1;12)(q24;q24.1), as noted in this case, emphasizes the continued requirement to understand further the complete range of cytogenetic variants that lead to leukemogenesis. This current case is a 3-year-old male who was diagnosed with AML and whose rare chromosomal translocation between the long arms of chromosomes 1 and 12 was noted. Routine cytogenetic study found t(1;12)(q24;q24.1) in most of the metaphases studied, which reflects a clonal abnormality. This result was also supported by Whole Chromosome Painting (WCP) FISH, which revealed the presence of chromosome 1 material on chromosome 12. The above structural rearrangement indicates a non-random and potentially pathogenic translocation between genes at or near the breakpoints on 1q24 and 12q24.1. From a molecular perspective, both of these chromosome regions involved in the translocation contain genes that are of functional importance in hematologic malignancies. The 1q21–q24 region, specifically, is a hot spot for structural alterations in a number of hematologic malignancies (Mitelman, F., et al, 2007). It contains BCL9, a known oncogene that functions as a co-activator for transcription in the Wnt/β-catenin pathway. Leukemogenesis has been implicated in BCL9 through mechanisms involving overexpression or fusion with enhancer elements, resulting in increased β-catenin activity and subsequent transcription of genes promoting cell proliferation, preventing apoptosis, and inhibiting differentiation. However, the direct implication of BCL9 in this particular instance is still to be molecularly confirmed, its location near the 1q24 breakpoint makes it a likely candidate for its dysregulation secondary to the translocation (Mala M. et al, 2009). Concurrently, chromosome 12q24.1 also harbours tumour suppressor genes including SH2B3 (LNK) and NCOR2 (SMRT), both of which are involved in the regulation of haematopoiesis. SH2B3 is an essential negative regulator of cytokine signalling through the JAK-STAT pathway and is a molecular brake on hematopoietic stem cell proliferation) (Fang, F., et al, 2022. SH2B3 loss-of-function mutations or deletions are commonly observed in myeloproliferative neoplasms and acute leukaemia. Disruption of SH2B3 may contribute to uncontrolled proliferation and survival of progenitor cells (Wintering, A., et al, 2024). Similarly, NCOR2 is a transcriptional corepressor that plays a role in chromatin remodelling and gene silencing. NCOR2 disruption has been documented in several malignancies, where it plays a role in leukemogenesis by inappropriate transcriptional regulation of genes related to the cell cycle and apoptosis (Mori T et al, 2021). The possible fusion or juxtaposition of genes like BCL9 and SH2B3 or NCOR2 in the context of t(1;12)(q24;q24.1) may have severe functional implications. Hypothetically, a BCL9–SH2B3 fusion would create a chimeric protein that aberrantly activates both Wnt and JAK-STAT pathways, resulting in aggressive leukemic transformation. Alternatively, translocation may cause relocation of enhancer elements to up-regulate oncogenic expression or suppress tumour suppressors irrespective of the generation of a fusion transcript (Rickman D. et al,2012). Trisomy 21 or Down syndrome is caused by the presence of an additional copy of chromosome 21 and thus overexpression of many genes that cause the clinical manifestations of the disorder. One of the genes most characterized to date is DYRK1A (dual-specificity tyrosine-phosphorylation-regulated kinase 1A). The gene has a central function in brain development and neuronal signalling pathways. Its overexpression has been associated with impaired neurogenesis, cognitive impairment, and structural brain abnormalities typically seen in patients with Down syndrome (Chu, D., et al, 2024). Another significant gene is DSCAM (Down syndrome cell adhesion molecule), implicated in patterning neurons and synaptic contacts. The overexpression of DSCAM is thought to interfere with proper brain wiring during early life, causing intellectual disability and learning disorders. By the same the APP (amyloid precursor protein) gene, though on chromosome 21, also plays a role in the pathogenesis of early-onset Alzheimer's disease in Down syndrome. APP overexpression results in elevated levels of amyloid-beta peptides, which accumulate in the brain and create plaques typical of Alzheimer's pathology by the fourth decade of life (Tang, X., et al, 2021). The SOD1 (superoxide dismutase 1) gene is a gene encoding for an enzyme detoxifying reactive oxygen species. Although this protective function occurs in normal conditions, overexpression of SOD1 in Down syndrome creates an imbalance in oxidative metabolism with enhanced oxidative stress, which may damage tissues and cells, such as neurons (Eleutherio, E. et al, 2021). Moreover, the ETS2 gene, coding for a transcription factor implicated in controlling cell growth and apoptosis, has a potential to cause developmental abnormalities and immune dysregulation in an overexpressed state (Wilson, T. et al, 2003). RUNX1, at position 21q22.12, is a transcription factor required for regular haematopoiesis. RUNX1 controls the genes associated with differentiation and cell growth of the hematopoietic stem cells. In Trisomy 21, RUNX1 overexpression caused by gene dosage imbalance has been shown to be causative for leukemogenesis, especially in myeloid leukaemia of Down syndrome (ML-DS). RUNX1 is also a common target of chromosomal translocations in AML, like t(8;21), resulting in the oncogenic RUNX1-RUNX1T1 fusion. Dysregulation of RUNX1 impinges on transcriptional regulation, cytokine signalling, and epigenetic modifications and plays a pivotal role in leukemic transformation (Haferlach, T., et al, 2019). The SRSF2 gene encodes a serine/arginine-rich splicing factor that is essential for the regulation of pre-mRNA splicing, a critical step in gene expression. This protein recognizes and binds specific RNA sequences, facilitating spliceosome assembly and influencing exon inclusion or exclusion. Besides splicing, SRSF2 contributes to mRNA stability, export from the nucleus, translation, and maintains genomic stability (Mala M. et al, 2009). Mutations in SRSF2, particularly the hotspot mutation p.P95H, are commonly found in myeloid malignancies, including acute myeloid Leukemia (AML), where they cause aberrant splicing of key transcripts, disrupting normal blood cell development and contributing to disease progression. These mutations are also linked to poor prognosis, highlighting the gene's importance as a diagnostic and prognostic biomarker in haematological cancers (Fang, F. et al., 2022). Lastly, the IFNAR (interferon alpha-receptor) gene, which is a component of the immune system, is also triplicated in Down syndrome patients. Its overexpression can result in exaggerated immune response and contributes to the immune dysregulation of such patients in the form of heightened susceptibility to autoimmune diseases and infections (Zanin, N., et al, 2021). These genes and the imbalance in their dosage collectively contribute importantly to determining the phenotypic characteristics, health problems, and developmental delays that accompany Trisomy 21 (Antonarakis, S. et al, 2020). Clinically, the patient presented with high white cell counts, anaemia, thrombocytopenia, splenomegaly, and increased marrow blasts, indicating an aggressive disease. The immunophenotype suggested myeloid origin with aberrant CD7 expression, a feature linked to poor outcomes in AML. The rare t(1;12)(q24;q24.1) abnormality, along with these findings, signifies a high-risk profile. Although uncommonly reported, translocations involving 1q and 12q arms have been associated with adverse prognosis in hematologic malignancies (Ronaghy A. et al., 2021). Due to limited precedent, its prognostic impact remains uncertain, but the involvement of key oncogenic and tumour suppressor loci suggests a leukemogenic role. Molecular assays such as RT-PCR, RNA sequencing, or whole-genome sequencing could clarify its genetic and functional consequences (Mitelman, F. et al., 2022). This case highlights the importance of combining conventional karyotyping with advanced molecular cytogenetic methods like WCP FISH. While G-banding enabled preliminary detection of the structural abnormality, WCP FISH confirmed and clearly visualized the exchange of chromosomal material, enhancing diagnostic precision. Such integrated approaches are vital in clinical practice for uncovering subtle or cryptic rearrangements that may go unnoticed, especially in atypical cases of paediatric leukaemia.
This case in which AML with Trisomy 21 and uncommon t(1;12)(q24;q24.1) translocation indicates synergistic leukemogenic effect through gene dosage and structural changes. Gene overexpression of chromosome 21 genes like RUNX1 and DYRK1A predispose to leukemic transformation, whereas translocation presumably inactivates genes like BCL9 (1q24) and SH2B3 (12q24.1), which are implicated in Wnt signalling and hematopoietic regulation. This underscores the significance of combined cytogenetic and molecular profiling in knowing the genetic underpinnings of paediatric AML.
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Dear Dr. Jessica Magne, Editorial Coordinator 0f Clinical Cardiology and Cardiovascular Interventions, The review process for the article “The Handling of Anti-aggregants and Anticoagulants in the Oncologic Heart Patient Submitted to Surgery” was extremely rigorous and detailed. From the initial submission to the final acceptance, the editorial team at the “Journal of Clinical Cardiology and Cardiovascular Interventions” demonstrated a high level of professionalism and dedication. The reviewers provided constructive and detailed feedback, which was essential for improving the quality of our work. Communication was always clear and efficient, ensuring that all our questions were promptly addressed. The quality of the “Journal of Clinical Cardiology and Cardiovascular Interventions” is undeniable. It is a peer-reviewed, open-access publication dedicated exclusively to disseminating high-quality research in the field of clinical cardiology and cardiovascular interventions. The journal's impact factor is currently under evaluation, and it is indexed in reputable databases, which further reinforces its credibility and relevance in the scientific field. I highly recommend this journal to researchers looking for a reputable platform to publish their studies.
Dear Editorial Coordinator of the Journal of Nutrition and Food Processing! "I would like to thank the Journal of Nutrition and Food Processing for including and publishing my article. The peer review process was very quick, movement and precise. The Editorial Board has done an extremely conscientious job with much help, valuable comments and advices. I find the journal very valuable from a professional point of view, thank you very much for allowing me to be part of it and I would like to participate in the future!”
Dealing with The Journal of Neurology and Neurological Surgery was very smooth and comprehensive. The office staff took time to address my needs and the response from editors and the office was prompt and fair. I certainly hope to publish with this journal again.Their professionalism is apparent and more than satisfactory. Susan Weiner
My Testimonial Covering as fellowing: Lin-Show Chin. The peer reviewers process is quick and effective, the supports from editorial office is excellent, the quality of journal is high. I would like to collabroate with Internatioanl journal of Clinical Case Reports and Reviews.
My experience publishing in Psychology and Mental Health Care was exceptional. The peer review process was rigorous and constructive, with reviewers providing valuable insights that helped enhance the quality of our work. The editorial team was highly supportive and responsive, making the submission process smooth and efficient. The journal's commitment to high standards and academic rigor makes it a respected platform for quality research. I am grateful for the opportunity to publish in such a reputable journal.
My experience publishing in International Journal of Clinical Case Reports and Reviews was exceptional. I Come forth to Provide a Testimonial Covering the Peer Review Process and the editorial office for the Professional and Impartial Evaluation of the Manuscript.
I would like to offer my testimony in the support. I have received through the peer review process and support the editorial office where they are to support young authors like me, encourage them to publish their work in your esteemed journals, and globalize and share knowledge globally. I really appreciate your journal, peer review, and editorial office.
Dear Agrippa Hilda- Editorial Coordinator of Journal of Neuroscience and Neurological Surgery, "The peer review process was very quick and of high quality, which can also be seen in the articles in the journal. The collaboration with the editorial office was very good."
I would like to express my sincere gratitude for the support and efficiency provided by the editorial office throughout the publication process of my article, “Delayed Vulvar Metastases from Rectal Carcinoma: A Case Report.” I greatly appreciate the assistance and guidance I received from your team, which made the entire process smooth and efficient. The peer review process was thorough and constructive, contributing to the overall quality of the final article. I am very grateful for the high level of professionalism and commitment shown by the editorial staff, and I look forward to maintaining a long-term collaboration with the International Journal of Clinical Case Reports and Reviews.
To Dear Erin Aust, I would like to express my heartfelt appreciation for the opportunity to have my work published in this esteemed journal. The entire publication process was smooth and well-organized, and I am extremely satisfied with the final result. The Editorial Team demonstrated the utmost professionalism, providing prompt and insightful feedback throughout the review process. Their clear communication and constructive suggestions were invaluable in enhancing my manuscript, and their meticulous attention to detail and dedication to quality are truly commendable. Additionally, the support from the Editorial Office was exceptional. From the initial submission to the final publication, I was guided through every step of the process with great care and professionalism. The team's responsiveness and assistance made the entire experience both easy and stress-free. I am also deeply impressed by the quality and reputation of the journal. It is an honor to have my research featured in such a respected publication, and I am confident that it will make a meaningful contribution to the field.
"I am grateful for the opportunity of contributing to [International Journal of Clinical Case Reports and Reviews] and for the rigorous review process that enhances the quality of research published in your esteemed journal. I sincerely appreciate the time and effort of your team who have dedicatedly helped me in improvising changes and modifying my manuscript. The insightful comments and constructive feedback provided have been invaluable in refining and strengthening my work".
I thank the ‘Journal of Clinical Research and Reports’ for accepting this article for publication. This is a rigorously peer reviewed journal which is on all major global scientific data bases. I note the review process was prompt, thorough and professionally critical. It gave us an insight into a number of important scientific/statistical issues. The review prompted us to review the relevant literature again and look at the limitations of the study. The peer reviewers were open, clear in the instructions and the editorial team was very prompt in their communication. This journal certainly publishes quality research articles. I would recommend the journal for any future publications.
Dear Jessica Magne, with gratitude for the joint work. Fast process of receiving and processing the submitted scientific materials in “Clinical Cardiology and Cardiovascular Interventions”. High level of competence of the editors with clear and correct recommendations and ideas for enriching the article.
We found the peer review process quick and positive in its input. The support from the editorial officer has been very agile, always with the intention of improving the article and taking into account our subsequent corrections.
My article, titled 'No Way Out of the Smartphone Epidemic Without Considering the Insights of Brain Research,' has been republished in the International Journal of Clinical Case Reports and Reviews. The review process was seamless and professional, with the editors being both friendly and supportive. I am deeply grateful for their efforts.
To Dear Erin Aust – Editorial Coordinator of Journal of General Medicine and Clinical Practice! I declare that I am absolutely satisfied with your work carried out with great competence in following the manuscript during the various stages from its receipt, during the revision process to the final acceptance for publication. Thank Prof. Elvira Farina
Dear Jessica, and the super professional team of the ‘Clinical Cardiology and Cardiovascular Interventions’ I am sincerely grateful to the coordinated work of the journal team for the no problem with the submission of my manuscript: “Cardiometabolic Disorders in A Pregnant Woman with Severe Preeclampsia on the Background of Morbid Obesity (Case Report).” The review process by 5 experts was fast, and the comments were professional, which made it more specific and academic, and the process of publication and presentation of the article was excellent. I recommend that my colleagues publish articles in this journal, and I am interested in further scientific cooperation. Sincerely and best wishes, Dr. Oleg Golyanovskiy.
Dear Ashley Rosa, Editorial Coordinator of the journal - Psychology and Mental Health Care. " The process of obtaining publication of my article in the Psychology and Mental Health Journal was positive in all areas. The peer review process resulted in a number of valuable comments, the editorial process was collaborative and timely, and the quality of this journal has been quickly noticed, resulting in alternative journals contacting me to publish with them." Warm regards, Susan Anne Smith, PhD. Australian Breastfeeding Association.
Dear Jessica Magne, Editorial Coordinator, Clinical Cardiology and Cardiovascular Interventions, Auctores Publishing LLC. I appreciate the journal (JCCI) editorial office support, the entire team leads were always ready to help, not only on technical front but also on thorough process. Also, I should thank dear reviewers’ attention to detail and creative approach to teach me and bring new insights by their comments. Surely, more discussions and introduction of other hemodynamic devices would provide better prevention and management of shock states. Your efforts and dedication in presenting educational materials in this journal are commendable. Best wishes from, Farahnaz Fallahian.
Dear Maria Emerson, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews, Auctores Publishing LLC. I am delighted to have published our manuscript, "Acute Colonic Pseudo-Obstruction (ACPO): A rare but serious complication following caesarean section." I want to thank the editorial team, especially Maria Emerson, for their prompt review of the manuscript, quick responses to queries, and overall support. Yours sincerely Dr. Victor Olagundoye.
Dear Ashley Rosa, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews. Many thanks for publishing this manuscript after I lost confidence the editors were most helpful, more than other journals Best wishes from, Susan Anne Smith, PhD. Australian Breastfeeding Association.
Dear Agrippa Hilda, Editorial Coordinator, Journal of Neuroscience and Neurological Surgery. The entire process including article submission, review, revision, and publication was extremely easy. The journal editor was prompt and helpful, and the reviewers contributed to the quality of the paper. Thank you so much! Eric Nussbaum, MD
Dr Hala Al Shaikh This is to acknowledge that the peer review process for the article ’ A Novel Gnrh1 Gene Mutation in Four Omani Male Siblings, Presentation and Management ’ sent to the International Journal of Clinical Case Reports and Reviews was quick and smooth. The editorial office was prompt with easy communication.
Dear Erin Aust, Editorial Coordinator, Journal of General Medicine and Clinical Practice. We are pleased to share our experience with the “Journal of General Medicine and Clinical Practice”, following the successful publication of our article. The peer review process was thorough and constructive, helping to improve the clarity and quality of the manuscript. We are especially thankful to Ms. Erin Aust, the Editorial Coordinator, for her prompt communication and continuous support throughout the process. Her professionalism ensured a smooth and efficient publication experience. The journal upholds high editorial standards, and we highly recommend it to fellow researchers seeking a credible platform for their work. Best wishes By, Dr. Rakhi Mishra.
Dear Jessica Magne, Editorial Coordinator, Clinical Cardiology and Cardiovascular Interventions, Auctores Publishing LLC. The peer review process of the journal of Clinical Cardiology and Cardiovascular Interventions was excellent and fast, as was the support of the editorial office and the quality of the journal. Kind regards Walter F. Riesen Prof. Dr. Dr. h.c. Walter F. Riesen.
Dear Ashley Rosa, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews, Auctores Publishing LLC. Thank you for publishing our article, Exploring Clozapine's Efficacy in Managing Aggression: A Multiple Single-Case Study in Forensic Psychiatry in the international journal of clinical case reports and reviews. We found the peer review process very professional and efficient. The comments were constructive, and the whole process was efficient. On behalf of the co-authors, I would like to thank you for publishing this article. With regards, Dr. Jelle R. Lettinga.
Dear Clarissa Eric, Editorial Coordinator, Journal of Clinical Case Reports and Studies, I would like to express my deep admiration for the exceptional professionalism demonstrated by your journal. I am thoroughly impressed by the speed of the editorial process, the substantive and insightful reviews, and the meticulous preparation of the manuscript for publication. Additionally, I greatly appreciate the courteous and immediate responses from your editorial office to all my inquiries. Best Regards, Dariusz Ziora
Dear Chrystine Mejia, Editorial Coordinator, Journal of Neurodegeneration and Neurorehabilitation, Auctores Publishing LLC, We would like to thank the editorial team for the smooth and high-quality communication leading up to the publication of our article in the Journal of Neurodegeneration and Neurorehabilitation. The reviewers have extensive knowledge in the field, and their relevant questions helped to add value to our publication. Kind regards, Dr. Ravi Shrivastava.
Dear Clarissa Eric, Editorial Coordinator, Journal of Clinical Case Reports and Studies, Auctores Publishing LLC, USA Office: +1-(302)-520-2644. I would like to express my sincere appreciation for the efficient and professional handling of my case report by the ‘Journal of Clinical Case Reports and Studies’. The peer review process was not only fast but also highly constructive—the reviewers’ comments were clear, relevant, and greatly helped me improve the quality and clarity of my manuscript. I also received excellent support from the editorial office throughout the process. Communication was smooth and timely, and I felt well guided at every stage, from submission to publication. The overall quality and rigor of the journal are truly commendable. I am pleased to have published my work with Journal of Clinical Case Reports and Studies, and I look forward to future opportunities for collaboration. Sincerely, Aline Tollet, UCLouvain.
Dear Ms. Mayra Duenas, Editorial Coordinator, International Journal of Clinical Case Reports and Reviews. “The International Journal of Clinical Case Reports and Reviews represented the “ideal house” to share with the research community a first experience with the use of the Simeox device for speech rehabilitation. High scientific reputation and attractive website communication were first determinants for the selection of this Journal, and the following submission process exceeded expectations: fast but highly professional peer review, great support by the editorial office, elegant graphic layout. Exactly what a dynamic research team - also composed by allied professionals - needs!" From, Chiara Beccaluva, PT - Italy.
Dear Maria Emerson, Editorial Coordinator, we have deeply appreciated the professionalism demonstrated by the International Journal of Clinical Case Reports and Reviews. The reviewers have extensive knowledge of our field and have been very efficient and fast in supporting the process. I am really looking forward to further collaboration. Thanks. Best regards, Dr. Claudio Ligresti
Dear Chrystine Mejia, Editorial Coordinator, Journal of Neurodegeneration and Neurorehabilitation. “The peer review process was efficient and constructive, and the editorial office provided excellent communication and support throughout. The journal ensures scientific rigor and high editorial standards, while also offering a smooth and timely publication process. We sincerely appreciate the work of the editorial team in facilitating the dissemination of innovative approaches such as the Bonori Method.” Best regards, Dr. Matteo Bonori.
I recommend without hesitation submitting relevant papers on medical decision making to the International Journal of Clinical Case Reports and Reviews. I am very grateful to the editorial staff. Maria Emerson was a pleasure to communicate with. The time from submission to publication was an extremely short 3 weeks. The editorial staff submitted the paper to three reviewers. Two of the reviewers commented positively on the value of publishing the paper. The editorial staff quickly recognized the third reviewer’s comments as an unjust attempt to reject the paper. I revised the paper as recommended by the first two reviewers.
Dear Maria Emerson, Editorial Coordinator, Journal of Clinical Research and Reports. Thank you for publishing our case report: "Clinical Case of Effective Fetal Stem Cells Treatment in a Patient with Autism Spectrum Disorder" within the "Journal of Clinical Research and Reports" being submitted by the team of EmCell doctors from Kyiv, Ukraine. We much appreciate a professional and transparent peer-review process from Auctores. All research Doctors are so grateful to your Editorial Office and Auctores Publishing support! I amiably wish our article publication maintained a top quality of your International Scientific Journal. My best wishes for a prosperity of the Journal of Clinical Research and Reports. Hope our scientific relationship and cooperation will remain long lasting. Thank you very much indeed. Kind regards, Dr. Andriy Sinelnyk Cell Therapy Center EmCell
Dear Editorial Team, Clinical Cardiology and Cardiovascular Interventions. It was truly a rewarding experience to work with the journal “Clinical Cardiology and Cardiovascular Interventions”. The peer review process was insightful and encouraging, helping us refine our work to a higher standard. The editorial office offered exceptional support with prompt and thoughtful communication. I highly value the journal’s role in promoting scientific advancement and am honored to be part of it. Best regards, Meng-Jou Lee, MD, Department of Anesthesiology, National Taiwan University Hospital.
Dear Editorial Team, Journal-Clinical Cardiology and Cardiovascular Interventions, “Publishing my article with Clinical Cardiology and Cardiovascular Interventions has been a highly positive experience. The peer-review process was rigorous yet supportive, offering valuable feedback that strengthened my work. The editorial team demonstrated exceptional professionalism, prompt communication, and a genuine commitment to maintaining the highest scientific standards. I am very pleased with the publication quality and proud to be associated with such a reputable journal.” Warm regards, Dr. Mahmoud Kamal Moustafa Ahmed
Dear Maria Emerson, Editorial Coordinator of ‘International Journal of Clinical Case Reports and Reviews’, I appreciate the opportunity to publish my article with your journal. The editorial office provided clear communication during the submission and review process, and I found the overall experience professional and constructive. Best regards, Elena Salvatore.
Dear Mayra Duenas, Editorial Coordinator of ‘International Journal of Clinical Case Reports and Reviews Herewith I confirm an optimal peer review process and a great support of the editorial office of the present journal
Dear Editorial Team, Clinical Cardiology and Cardiovascular Interventions. I am really grateful for the peers review; their feedback gave me the opportunity to reflect on the message and impact of my work and to ameliorate the article. The editors did a great job in addition by encouraging me to continue with the process of publishing.
Dear Cecilia Lilly, Editorial Coordinator, Endocrinology and Disorders, Thank you so much for your quick response regarding reviewing and all process till publishing our manuscript entitled: Prevalence of Pre-Diabetes and its Associated Risk Factors Among Nile College Students, Sudan. Best regards, Dr Mamoun Magzoub.
International Journal of Clinical Case Reports and Reviews is a high quality journal that has a clear and concise submission process. The peer review process was comprehensive and constructive. Support from the editorial office was excellent, since the administrative staff were responsive. The journal provides a fast and timely publication timeline.
Dear Maria Emerson, Editorial Coordinator of International Journal of Clinical Case Reports and Reviews, What distinguishes International Journal of Clinical Case Report and Review is not only the scientific rigor of its publications, but the intellectual climate in which research is evaluated. The submission process is refreshingly free of unnecessary formal barriers and bureaucratic rituals that often complicate academic publishing without adding real value. The peer-review system is demanding yet constructive, guided by genuine scientific dialogue rather than hierarchical or authoritarian attitudes. Reviewers act as collaborators in improving the manuscript, not as gatekeepers imposing arbitrary standards. This journal offers a rare balance: high methodological standards combined with a respectful, transparent, and supportive editorial approach. In an era where publishing can feel more burdensome than research itself, this platform restores the original purpose of peer review — to refine ideas, not to obstruct them Prof. Perlat Kapisyzi, FCCP PULMONOLOGIST AND THORACIC IMAGING.
Dear Grace Pierce, International Journal of Clinical Case Reports and Reviews I appreciate the opportunity to review for Auctore Journal, as the overall editorial process was smooth, transparent and professionally managed. This journal maintains high scientific standards and ensures timely communications with authors, which is truly commendable. I would like to express my special thanks to editor Grace Pierce for his constant guidance, promt responses, and supportive coordination throughout the review process. I am also greatful to Eleanor Bailey from the finance department for her clear communication and efficient handling of all administrative matters. Overall, my experience with Auctore Journal has been highly positive and rewarding. Best regards, Sabita sinha
Dear Mayra Duenas, Editorial Coordinator of the journal IJCCR, I write here a little on my experience as an author submitting to the International Journal of Clinical Case Reports and Reviews (IJCCR). This was my first submission to IJCCR and my manuscript was inherently an outsider’s effort. It attempted to broadly identify and then make some sense of life’s under-appreciated mysteries. I initially had responded to a request for possible submissions. I then contacted IJCCR with a tentative topic for a manuscript. They quickly got back with an approval for the submission, but with a particular requirement that it be medically relevant. I then put together a manuscript and submitted it. After the usual back-and-forth over forms and formality, the manuscript was sent off for reviews. Within 2 weeks I got back 4 reviews which were both helpful and also surprising. Surprising in that the topic was somewhat foreign to medical literature. My subsequent updates in response to the reviewer comments went smoothly and in short order I had a series of proofs to evaluate. All in all, the whole publication process seemed outstanding. It was both helpful in terms of the paper’s content and also in terms of its efficient and friendly communications. Thank you all very much. Sincerely, Ted Christopher, Rochester, NY.
