Leukemia Research Reports最新文献

{"title":"PREDICTION OF POST-TRANSPLANT RELAPSE IN THE MYELODYSPLASTIC SYNDROMES VIA EVALUATION OF STEM CELLS","authors":"S. Chung ,&nbsp;B. Kroger ,&nbsp;Y. Huang ,&nbsp;A. Son ,&nbsp;P. Carlsgaard ,&nbsp;L. Pop ,&nbsp;R. Vittrup ,&nbsp;F. Kalkan ,&nbsp;A. Cherukuri ,&nbsp;D. Sallman ,&nbsp;R. Tamari ,&nbsp;C. Gurnari ,&nbsp;J. Maciejewski ,&nbsp;Y. Madanat","doi":"10.1016/j.lrr.2024.100434","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100434","url":null,"abstract":"<div><h3>Introduction</h3><p>Allogeneic stem cell transplant (alloSCT) remains the only curative treatment for the myelodysplastic syndromes (MDS), but relapse is common. Studies using error-corrected sequencing (ECS) on bulk bone marrow (BM) have shown that molecular residual disease is predictive of relapse. But the sensitivity of this approach is limited, and it is not known what cells give rise to relapse.</p></div><div><h3>Methods</h3><p>To test our hypothesis that hematopoietic stem cells (HSCs) drive post-transplant relapse, we developed a protocol to perform ECS on as few as &lt;25 HSCs. We used this new tool to ask if post-transplant relapse originates from MDS HSCs, and whether their persistence predicts for relapse. We also sought to determine if curing MDS requires eradication of MDS HSCs, or whether they are simply suppressed by graft-versus-tumor effect.</p></div><div><h3>Results</h3><p>We sequenced HSCs, multipotent progenitors (MPPs), restricted progenitors, and bulk BM from 33 MDS patients who underwent alloSCT (with an additional 20 specimens to be presented). Persistence of mutations in HSCs/MPPs in the first 120 days post-transplant was 100% specific and 84% sensitive for relapse, while detection of mutations in bulk BM was only 41% sensitive and 85% specific (Figure). Average time from mutation detection in HSCs/MPPs to relapse was 6.9 months.</p></div><div><h3>Conclusions</h3><p>In conclusion, we have shown for the first time that relapse of MDS after allogeneic transplant is driven by failure to eradicate MDS HSCs, and that detection of MDS HSCs early after transplant is highly predictive for relapse. This can identify patients who may benefit from early post-transplant interventions to forestall relapse.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100434"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000244/pdfft?md5=5c20ca020c976ddcb1410b50e5ea0d5c&pid=1-s2.0-S2213048924000244-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel mutation of LYST and haemophagocytic lymphohistiocytosis as the first symptom in children with ph+ALL: A case report and literature review","authors":"Tiantian Wang ,&nbsp;Xuhui liu ,&nbsp;Li Lin ,&nbsp;Renzhi Pei ,&nbsp;Ying Lu","doi":"10.1016/j.lrr.2024.100481","DOIUrl":"10.1016/j.lrr.2024.100481","url":null,"abstract":"<div><div>Haemophagocytic lymphohistiocytosis (HLH) is a rare disorder. This study sheds light on a rare and intriguing case of HLH as the initial symptom in a child with Philadelphia chromosome-positive acute lymphoblastic leukaemia (ph+ALL). This case report, accompanied by a comprehensive literature review, highlights the diagnostic challenges and treatment complexities encountered in the management of such rare manifestations. Moreover, the identification of a novel mutation in the <em>LYST</em> gene adds a unique genetic perspective to the understanding of HLH pathogenesis, potentially opening avenues for further research in this area.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"22 ","pages":"Article 100481"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142421070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An uncommon triad of myelodysplastic syndrome, Crohn's disease and autoimmune hepatitis: A case report and review of the literature","authors":"Arij Cheffai,&nbsp;Wiem Boufrikha,&nbsp;Rim Rakez,&nbsp;Amina Ben Ghechir,&nbsp;Mohamed Adnène Laatiri","doi":"10.1016/j.lrr.2024.100487","DOIUrl":"10.1016/j.lrr.2024.100487","url":null,"abstract":"<div><div>Myelodysplastic syndrome (MDS) is associated with an autoimmune disease (AD) in 10 to 20% of cases. Crohn's disease (CD) is not a common autoimmune manifestation reported with MDS. The triad made up of MDS, CD and another autoimmune manifestation is even more unusual. To our knowledge, only four cases with this triad have been reported in the literature to date, and ours is the fifth. It's about a 50-year-old man with a history of autoimmune hepatitis who was diagnosed, five years later, with MDS with multilineage dysplasia. He was started on Azacitidine three weeks before retaining the diagnosis of an associated CD.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"22 ","pages":"Article 100487"},"PeriodicalIF":0.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142660224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute leukemia with KMT2A rearrangement: A master of disguise","authors":"Sawyer J. Bawek ,&nbsp;Eunice S. Wang ,&nbsp;Steven D. Green","doi":"10.1016/j.lrr.2024.100464","DOIUrl":"10.1016/j.lrr.2024.100464","url":null,"abstract":"<div><p>Mixed-phenotype acute leukemia (MPAL) is a rare form of leukemia with ambiguous lineage, and there are challenges in accurately diagnosing this entity according to formal criteria. Here we report a case which was initially diagnosed as “AML” based on atypical peripheral blood flow cytometry that was subsequently determined to be B-ALL with <em>KMT2A</em> rearrangement based on marrow results. Although <em>KMT2A</em> rearrangements represent a defining genetic abnormality for acute leukemia of ambiguous lineage, this case did not meet the criteria for MPAL based on WHO 2022 criteria. This case highlights the diagnostic challenges of MPAL and the potential limitations of the current classification. We discuss the most appropriate workup and management of these patients and identify areas for future study.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100464"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000542/pdfft?md5=f23917a73bb86c9fd905a42e6e9f90f9&pid=1-s2.0-S2213048924000542-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141132466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term hematologic response after azacitidine treatment in a lower-risk myelodysplastic syndrome patient: A case report","authors":"Konstantinos Loukidis ,&nbsp;Marcel Tschopp","doi":"10.1016/j.lrr.2024.100412","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100412","url":null,"abstract":"<div><p>We report results of a 65-year-old patient with lower-risk myelodysplastic syndrome and multilineage dysplasia treated with hypomethylating agents. After failure of erythropoietin and thalidomide, the patient received azacitidine and achieved hematological remission for 95 months. In 2016, the treatment was switched to decitabine with promising results. These data showed that azacitidine used as a third-line treatment resulted in an exceptionally long-lasting positive hematological response after standard first- and second-line therapies had failed. Additionally, the patient experienced a good quality of life with no complications related to profound cytopenia, and continues to do so at the time of this report's preparation.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100412"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000025/pdfft?md5=e72361bbaa948ac9ce896da14d682999&pid=1-s2.0-S2213048924000025-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139436101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PROVIDING TIMELY PATIENT-CENTERED MOLECULAR DIAGNOSTIC TESTING FOR PATIENTS WITH ACUTE MYELOID LEUKEMIA: A QUALITY IMPROVEMENT STUDY","authors":"A. Qureshi ,&nbsp;J. Ho ,&nbsp;L. Schenkel ,&nbsp;B. Chin-Yee ,&nbsp;U. Deotare ,&nbsp;A. Meybodi ,&nbsp;L. Saini ,&nbsp;B. Sadikovic ,&nbsp;I. Chin-Yee","doi":"10.1016/j.lrr.2024.100422","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100422","url":null,"abstract":"<div><h3>Introduction</h3><p>At many centers, molecular diagnostic (MD) testing for Acute Myeloid Leukemia (AML) struggles to meet turn-around-time (TAT) required for therapeutic decision-making. At our tertiary referral centre, TAT for MD (karyotyping and next-generation sequencing [NGS]) exceeded 4 weeks, resulting in a 'quality gap' in our care pathway for AML. The goal of our study was to improve TAT for MD to optimize care for patients with AML/MDS.</p></div><div><h3>Methods</h3><p>A multidisciplinary team (hematologists, laboratory scientists, and hematopathologists) defined target TATs for each MD test based on guidelines and available therapies. TAT was evaluated from time of bone marrow to MD reporting. Retrospective review from 2021-2022 was performed to establish baseline time points to compare to post-intervention TATs. Root cause analysis was performed through stakeholder interviews to identify areas contributing to delays in TAT. The primary outcome was the ability to meet target TAT for MD.</p></div><div><h3>Results</h3><p>Baseline TAT for cytogenetics and NGS varied widely and exceeded targets (Figure 1). Root cause analysis identified lack standardized ordering and testing for patients with AML due to inconsistent decision-maker awareness. Laboratory factors included batching and lack prioritization of AML samples. Interventions included a standardized AML testing algorithm triggered reflexively by flow cytometry at the time diagnosis. Impact of laboratory triggered algorithm for AML testing is shown in Figure 1.</p></div><div><h3>Conclusions</h3><p>Shared decision-making between hematologists and laboratory practitioners to develop an algorithm for reflex testing and treatment of AML improved TAT. Further improvements are underway to acheive targets, and lessons will be used to inform care pathways for AML/MDS.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100422"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000128/pdfft?md5=c7c6e8b1ab03b7c7ac343da1529bcfcf&pid=1-s2.0-S2213048924000128-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MITOCHONDRIAL FRAGMENTATION IS A NEW THERAPEUTIC TARGET AND DIAGNOSTIC CRITERIA FOR MYELODYSPLASTIC SYNDROMES.","authors":"Y. Kamimura-Aoyagi ,&nbsp;Y. Harada ,&nbsp;K. Nomura ,&nbsp;N. Matsunuma ,&nbsp;K. Yuki ,&nbsp;H. Kobayashi ,&nbsp;Y. Hayashi ,&nbsp;A. Hijikata ,&nbsp;H. Harada","doi":"10.1016/j.lrr.2024.100424","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100424","url":null,"abstract":"<div><h3>Introduction</h3><p>Myelodysplastic syndromes (MDS) are characterized by persistent of cytopenia, gene abnormalities, and dysplasia. Although the correlation between chronic inflammation and ineffective hematopoiesis is demonstrated in forming MDS pathogenesis, the detailed mechanisms remain unclear.</p></div><div><h3>Methods</h3><p>Recently, we established a new MDS with low blasts (MDS-LB) model (<em>CBL^ΔE8/9-RUNX1^S291fs</em> mice) , which recapitulates MDS-LB pathogenesis such as pancytopenia and chronic inflammation, by introducing these two mutations into murine hematopoietic stem and progenitor cells (HSC/Ps) .</p></div><div><h3>Results</h3><p>MDS model mice exhibited excessive mitochondrial fragmentation due to Drp1 activation in HSC/Ps. Importantly, pharmacological inhibition of mitochondrial fragmentation rescued leukocytopenia and dysplasia formation in MDS mice by suppressing inflammatory signaling activation, suggesting that mitochondrial fragmentation could be a new therapeutic target of MDS. Given that mitochondrial fragmentation is related to MDS pathogenesis, we hypothesized that mitochondrial fragmentation can be used for morphological diagnosis of MDS. Differential diagnosis of patients with non-MDS cytopenia and MDS-LB has been challenging. We assessed mitochondrial morphology in bone marrow samples from 10 healthy individuals and 141 patients before disease-modifying therapy. The percentage of cells with mitochondrial fragmentation was significantly increased in patients with MDS-LB, compared with that in patients with cytopenia without dysplasia and gene abnormality (mean 50.7% vs 22.4%, P&lt;0.001, cutoff value 30.8%). The calculated cutoff value clearly distinguishes patients with MDS-LB and non-MDS cytopenia.</p></div><div><h3>Conclusions</h3><p>These data suggest that mitochondrial fragmentation can be not only a new therapeutic target of MDS-LB but also one category of dysplasia that can diagnose MDS-LB.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100424"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000141/pdfft?md5=eaf437a90e97a820f57941330d565a3f&pid=1-s2.0-S2213048924000141-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KINOME EXPRESSION PROFILING FOR RISK STRATIFICATION OF MYELODYSPLASTIC SYNDROMES","authors":"C.-Y. Yao ,&nbsp;C.-C. Lin ,&nbsp;Y.-H. Wang ,&nbsp;C.-J. Kao ,&nbsp;C.-H. Tsai ,&nbsp;H.-A. Hou ,&nbsp;H.-F. Tien ,&nbsp;C.-L. Hsu ,&nbsp;W.-C. Chou","doi":"10.1016/j.lrr.2024.100433","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100433","url":null,"abstract":"<div><h3>Introduction</h3><p>Myelodysplastic syndrome (MDS) is a heterogeneous constellation of myeloid neoplasms originating from the clonal proliferation of aberrant hematopoietic stem cells (HSC). The human kinome, which comprises over five hundred kinases, plays a critical role in regulating numerous cellular functions. Although the dysregulation of kinases has been observed in various human cancers, the characterization and clinical implications of kinase expressions in MDS have not been investigated before.</p></div><div><h3>Methods</h3><p>Overall, 341 patients diagnosed with primary MDS according to the 2016 WHO classification, who had adequate cryopreserved diagnostic unsorted bone marrow (BM) samples for DNA and RNA sequencing, were recruited. The normalized gene expressions of a total of 517 kinase gene were studied. We first identified those kinases whose expressions were higher in MDS patients than in healthy controls, and then used LASSO-regularized Cox proportional hazards regression to identify prognostically significant kinases to construct the KInase Stratification Score (KISS).</p></div><div><h3>Results</h3><p>We discovered that the expression levels of seven kinases (<em>PTK7, KIT, MAST4, NTRK1, PAK6, CAMK1D, PRKCZ</em>) could predict patient outcome, and we used these kinases to construct the KISS; we further validated its prognostic significance in two external MDS cohorts. A higher KISS was associated with older age, higher BM blast percentage, higher IPSS-R risk, complex karyotype, and mutations in several adverse-risk genes in MDS. In the multivariate analysis, a higher KISS was proved to be an independent unfavorable risk factor.</p></div><div><h3>Conclusions</h3><p>Altogether, our findings suggest that KISS holds the potential to improve the current prognostic scheme of MDS, and inform novel therapeutic opportunities.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100433"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000232/pdfft?md5=c610a93c5930abf41034806f87be75a7&pid=1-s2.0-S2213048924000232-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DISTINCT PATHOGENESIS OF CLONAL HEMATOPOIESIS REVEALED BY SINGLE-CELL MULTI-OMICS SEQUENCING.","authors":"M. Nakagawa ,&nbsp;R. Inagaki ,&nbsp;Y. Kuroda ,&nbsp;Y. Nannya ,&nbsp;M. Motomura ,&nbsp;A. Kon ,&nbsp;L. Zhao ,&nbsp;Y. Ochi ,&nbsp;J. Takeda ,&nbsp;X. Qi ,&nbsp;K. Okazaki ,&nbsp;A. Yoda ,&nbsp;N. Kakiuchi ,&nbsp;H. Makishima ,&nbsp;S. Matsuda ,&nbsp;S. Ogawa","doi":"10.1016/j.lrr.2024.100435","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100435","url":null,"abstract":"<div><h3>Introduction</h3><p>Despite the significant impact of clonal hematopoiesis (CH) on leukemogenesis, the pathogenesis of CH is still not fully understood.</p></div><div><h3>Methods</h3><p>Utilizing a novel single-cell sequencing platform that allows for simultaneous detection of mutations and gene expression, we examined the gene expression profiles of hematopoietic stem and progenitor cells (HSPCs) harboring CH-related mutations from CH(+) cases, which was compared with that of wild-type (WT) cells from both CH(+) and CH(−) cases. Age-related changes in the bone marrow (BM) environment were also assessed using CH(−) cases.</p></div><div><h3>Results</h3><p>In 12 patients with CH, genes associated with cell proliferation were upregulated in mutant cells. Significantly, mutant cells showed decreased expression of genes related to inflammatory responses, which were enhanced in BM cells from aged CH(−) cases, indicating the potential contribution of aged BM environment to the positive selection of mutant cells. Unexpectedly, WT cells from 3 <em>TET2</em>-CH(+) cases demonstrated significant upregulation of genes related to interferon response and cell proliferation, compared with those from age-matched CH(−) cases, suggesting the altered BM environments. Notably, when competitively transplanted with <em>Tet2</em>-knockout (KO) cells, WT HSPCs displayed enhanced expression of genes associated with cell proliferation and interferon signalling, compared with those transplanted with WT cells, implying non-cell autonomous effects of mutant cells.</p></div><div><h3>Conclusions</h3><p>These results suggest that mutant cells in CH(+) BM may exert non-cell autonomous effects on WT cells. Alongside aged BM environments, these effects may contribute to the positive selection of CH clones, playing a pivotal role in the pathogenesis of CH.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100435"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000256/pdfft?md5=a2255fb0a12b165edb092ce07c602d42&pid=1-s2.0-S2213048924000256-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SINGLE-CENTRE PERSPECTIVE ON ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR PAEDIATRIC MYELODYSPLASTIC SYNDROME IN THE DEVELOPING WORLD","authors":"R. Khandelwal,&nbsp;S. Arora,&nbsp;S.P. Yadav","doi":"10.1016/j.lrr.2024.100449","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100449","url":null,"abstract":"<div><h3>Introduction</h3><p>Pediatric Myelodysplastic Syndrome (MDS) presents complex challenges, often requiring Allogeneic Hematopoietic Stem Cell Transplantation (HSCT). This study explores the clinical profile and demographics of seven pediatric MDS patients post-HSCT, shedding light on causes, molecular abnormalities, and patient diversity.</p></div><div><h3>Methods</h3><p>Retrospective data from 2014 to 2023 were gathered from the Pediatric Hematology Oncology &amp; Bone Marrow Transplantation Unit at the Cancer Institute in North India.</p></div><div><h3>Results</h3><p><strong>Patient Demographics:</strong> Seven pediatric patients (4 males, 3 females), median age 12, underwent HSCT (Five matched related donor HSCT and two haploidentical). <strong>Underlying Causes of MDS:</strong> Varied etiological factors identified, including Fanconi anemia (n=2), Emberger syndrome (n=1), therapy-related (n=1), GATA-2 insufficiency (n=1), and de novo cases in 2 patients, highlighting population heterogeneity. <strong>Molecular Abnormalities:</strong> Analysis revealed Monosomy-7 in two patients, NPM-1 in one, and GATA-2 mutation in two cases, providing crucial insights into the genetic landscape of MDS in this specific patient group. <strong>Post-transplant Outcome</strong>: Successful engraftment for all, with median neutrophil engraftment at 15.5 days and platelet engraftment at 13.5 days. GVHD and viral reactivation observed, yet 85.7% survived with complete donor chimerism. Unfortunately, one FA patient succumbed on day +72 due to E.coli sepsis with grade-IV GVHD. Mean follow-up is 33.5 months (2.7 years), ranging from 2.5 to 60 months.</p></div><div><h3>Conclusions</h3><p>HSCT emerges as an effective therapy for pediatric MDS patients, yielding promising results in this developing world context.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100449"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000396/pdfft?md5=39272a82a1ebca6b69548d406f8f4e5e&pid=1-s2.0-S2213048924000396-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}