Clinical hematology international最新文献

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Improving Advanced-Line Multiple Myeloma Care: Insights and Real-World Challenges from the EMMY Study. 改进晚期多发性骨髓瘤护理:来自EMMY研究的见解和现实世界的挑战。
Clinical hematology international Pub Date : 2025-09-18 eCollection Date: 2025-01-01 DOI: 10.46989/001c.143641
Titouan Cazaubiel, Olivier Decaux, Bruno Royer, Denis Caillot, Arthur Bobin, Karim Belhadj-Merzoug, Margaret Macro, Laure Vincent, Aurore Perrot, Mohamad Mohty, Lionel Karlin, Caroline Jacquet, Laurent Frenzel, Thomas Chalopin, Cécile Sonntag, Jean Fontan, Sophie Rigaudeau, Cyrille Touzeau, Hélène Demarquette, Abdelaziz Chaib, Clémence Santana, Stéphane Darre, Benoit Bareau, Ronan Garlantézec, Cyrille Hulin
{"title":"Improving Advanced-Line Multiple Myeloma Care: Insights and Real-World Challenges from the EMMY Study.","authors":"Titouan Cazaubiel, Olivier Decaux, Bruno Royer, Denis Caillot, Arthur Bobin, Karim Belhadj-Merzoug, Margaret Macro, Laure Vincent, Aurore Perrot, Mohamad Mohty, Lionel Karlin, Caroline Jacquet, Laurent Frenzel, Thomas Chalopin, Cécile Sonntag, Jean Fontan, Sophie Rigaudeau, Cyrille Touzeau, Hélène Demarquette, Abdelaziz Chaib, Clémence Santana, Stéphane Darre, Benoit Bareau, Ronan Garlantézec, Cyrille Hulin","doi":"10.46989/001c.143641","DOIUrl":"10.46989/001c.143641","url":null,"abstract":"<p><p>Managing multiple myeloma (MM) patients receiving advanced (four or more) lines of treatment is a complex challenge. Therefore, real-world data are essential to better understand and address the medical need of this challenging population. We used the EMMY cohort, a French longitudinal real-world study, to describe the characteristics and outcomes of 2127 MM patients receiving advanced-line treatments between 2017 and 2020. A wide variety of treatments were used without a predominant combination showing an evolution over time. Patients exhibited median time to next treatment and overall survival ranging from 7.8 months (95% CI: 6.7-7.8) and 19.4 months (95% CI: 17.4-22.5) in Line 4 (L4) to 4.8 months (95% CI: 3.5-6) and 12.6 months (95% CI: 8.7-16.6) in L8, respectively. The EMMY study provides valuable insights into the real-world application of advanced-line treatments, demonstrating rapid disease progression and poor outcomes in these patients before the novel anti-B-cell maturation antigen (BCMA) directed therapies. These findings highlight the critical need for novel therapies in this population.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 3","pages":"60-68"},"PeriodicalIF":0.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12449165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115506","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}
引用次数: 0
Consensus Guidelines and Recommendations for the anti-CD38-based Therapy in Clinical Practice for Relapsed/Refractory Multiple Myeloma: From the Pan-Pacific Multiple Myeloma Working Group. 复发/难治性多发性骨髓瘤临床实践中基于抗cd38治疗的共识指南和建议:来自泛太平洋多发性骨髓瘤工作组
Clinical hematology international Pub Date : 2025-08-08 eCollection Date: 2025-01-01 DOI: 10.46989/001c.141401
Wenming Chen, Zhen Cai, Chor Sang Chim, Wee Joo Chng, Juan Du, Chengcheng Fu, Wen Gao, Ichiro Hanamura, Jian Hou, Jeffrey Shang-Yi Huang, Tadao Ishida, Chunrui Li, Aijun Liu, Vadim Ptushkin, Naoki Takezako, Raymond Siu Ming Wong, Dok Hyun Yoon
{"title":"Consensus Guidelines and Recommendations for the anti-CD38-based Therapy in Clinical Practice for Relapsed/Refractory Multiple Myeloma: From the Pan-Pacific Multiple Myeloma Working Group.","authors":"Wenming Chen, Zhen Cai, Chor Sang Chim, Wee Joo Chng, Juan Du, Chengcheng Fu, Wen Gao, Ichiro Hanamura, Jian Hou, Jeffrey Shang-Yi Huang, Tadao Ishida, Chunrui Li, Aijun Liu, Vadim Ptushkin, Naoki Takezako, Raymond Siu Ming Wong, Dok Hyun Yoon","doi":"10.46989/001c.141401","DOIUrl":"10.46989/001c.141401","url":null,"abstract":"<p><p>Anti-CD38 monoclonal antibodies (mAbs), including daratumumab and isatuximab, have become key components of treatment for relapsed/refractory multiple myeloma (RRMM). This expert consensus provides evidence-based guidance on their optimal use, including regimen selection, special considerations for elderly or frail patients, and the treatment of high-risk subgroups. Key topics addressed include the selection of anti-CD38-based regimens, patient stratification by frailty and comorbidities, strategies for managing hematologic toxicities, and considerations for re-treatment. Anti-CD38 mAb-based regimens have demonstrated clinical efficacy across diverse RRMM populations, including patients with high-risk cytogenetic abnormalities such as 1q21+. While resistance remains a clinical challenge, particularly in previously exposed patients, current evidence supports the feasibility of anti-CD38 mAb rechallenge following a substantial washout period (typically 6 to 12 months), which may allow partial recovery of CD38 expression and immune effector function. The consensus also emphasizes the continued utility of these agents in elderly or frail individuals, where durable responses can be achieved with appropriate monitoring and supportive care. Moreover, anti-CD38 mAbs are recognized as key components within evolving treatment paradigms, supporting their use for combination strategies involving emerging immunotherapies such as CAR-T cells and bispecific antibodies. This consensus provides a framework to guide individualized treatment decisions and highlights the need for continued research to optimize the integration of anti-CD38 mAbs into the modern therapeutic landscape of RRMM.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 3","pages":"36-59"},"PeriodicalIF":0.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818619","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}
引用次数: 0
Beyond Hypomethylating Agents: Novel Therapies and Targeted Approaches. 超越低甲基化药物:新疗法和靶向方法。
Clinical hematology international Pub Date : 2025-08-07 eCollection Date: 2025-01-01 DOI: 10.46989/001c.142956
Viviana Cortiana, Harshitha Vallabhaneni, Jenna Ghazal, Kennedy Itodo, Taha Kassim Dohadwala, Chandler Park, Yan Leyfman
{"title":"Beyond Hypomethylating Agents: Novel Therapies and Targeted Approaches.","authors":"Viviana Cortiana, Harshitha Vallabhaneni, Jenna Ghazal, Kennedy Itodo, Taha Kassim Dohadwala, Chandler Park, Yan Leyfman","doi":"10.46989/001c.142956","DOIUrl":"10.46989/001c.142956","url":null,"abstract":"<p><p>Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic diseases sharing ineffective hematopoiesis, cytopenias, and a high risk of evolution to acute myeloid leukemia (AML). The current MDS classification systems, such as the International Consensus Classification (ICC) and the WHO 2022 classification, have incorporated molecular and cytogenetic markers to improve the stratification of risk and guide therapy. However, treatment options for high-risk MDS (HR-MDS) remain limited, with hypomethylating agents (HMAs) providing only modest survival benefits. Emerging treatments such as immune checkpoint blockade and novel targeted therapies could further improve patient outcomes. While early excitement was significant, clinical trials of the immune checkpoint inhibitors (ICIs) ipilimumab and durvalumab have produced no definitive results, highlighting the need for better patient selection and combination regimens. Emerging drugs luspatercept and imetelstat have been suggested for lower-risk MDS (LR-MDS) by promoting transfusion independence and global hematologic response. In contrast, exploratory agents such as pevonedistat, magrolimab, and sabatolimab are under further investigation for HR-MDS. The future of MDS treatment currently addresses precision medicine, in which molecular characterization guides therapeutic options. Identification of predictive biomarkers for response to targeted therapies and immunotherapies is crucial to optimize patient outcomes. An integrated, patient-centered approach combining genomics, novel therapeutics, and immunomodulation is therefore essential to address the current needs in MDS management.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 3","pages":"24-35"},"PeriodicalIF":0.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12334995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818618","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}
引用次数: 0
Networking for a successful career in clinical hematology: a strategic approach. 网络在临床血液学成功的职业生涯:一个战略方法。
Clinical hematology international Pub Date : 2025-07-24 eCollection Date: 2025-01-01 DOI: 10.46989/001c.141400
Mohamad Mohty, Rahul Banerjee
{"title":"Networking for a successful career in clinical hematology: a strategic approach.","authors":"Mohamad Mohty, Rahul Banerjee","doi":"10.46989/001c.141400","DOIUrl":"10.46989/001c.141400","url":null,"abstract":"<p><p>Networking is fundamental to career development in clinical hematology, providing avenues for knowledge exchange, collaborations, and professional growth. This manuscript examines specific strategies for networking within this specialized field, detailing effective platforms, strategies, overcoming challenges, and illustrating real-world success stories. References to key studies and expert opinions underscore the importance of building a robust professional network through in-person and online activities. An extensive review of literature highlights how networking contributes to scientific collaboration, mentorship, career opportunities, and the dissemination of cutting-edge hematological research.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 3","pages":"20-23"},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145187524","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}
引用次数: 0
Large intramuscular hematoma due to acquired Factor VIII inhibitors in post Polycythemia Vera-Myelofibrosis. 大肌肉内血肿由于获得性因子VIII抑制剂后的多红细胞增多症-髓纤维化。
Clinical hematology international Pub Date : 2025-07-07 eCollection Date: 2025-01-01 DOI: 10.46989/001c.141157
Raghuveer S Prabhu, Sarath R V S, Rahmathullah S N
{"title":"Large intramuscular hematoma due to acquired Factor VIII inhibitors in post Polycythemia Vera-Myelofibrosis.","authors":"Raghuveer S Prabhu, Sarath R V S, Rahmathullah S N","doi":"10.46989/001c.141157","DOIUrl":"10.46989/001c.141157","url":null,"abstract":"<p><p>A 59-year-old man with Janus kinase-2 (JAK2) V617F mutation-positive polycythemia vera, evolving to myelofibrosis presented with a right thigh hematoma. Further evaluation showed prolonged activated partial thromboplastin time (aPTT), which was partially corrected after mixing with pooled normal plasma (PNP) and, low factor VIII (F VIII) levels. He was diagnosed to have acquired F VIII inhibitors, and treated with prednisolone for inhibitor eradication. After four weeks of treatment, his aPTT normalized, F VIII rose to 86% and the hematoma was resolved. The case report is followed by a discussion on the topic, revisiting the handful of cases published so far, and the possible mechanisms leading to inhibitor formation in MPN. Further studies are required to elucidate the pathophysiology and the incidence of F VIII inhibitor development in myeloproliferative neoplasms.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 3","pages":"14-19"},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12240161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602465","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}
引用次数: 0
The short-term Cardiotoxicity after Allogeneic Hematopoietic Stem Cell Transplantation: A Retrospective single center experience. 同种异体造血干细胞移植后的短期心脏毒性:回顾性单中心经验。
Clinical hematology international Pub Date : 2025-07-02 eCollection Date: 2025-01-01 DOI: 10.46989/001c.140766
Jean El Cheikh, Ibrahim Hasan, Mustafa Saleh, Zyad Saifi, Mohamad Ammar Al Kouchak, Nour Moukalled, Iman Abu Dalle, Omar Fakhreddine, Ali Bazarbachi, Hadi Skouri
{"title":"The short-term Cardiotoxicity after Allogeneic Hematopoietic Stem Cell Transplantation: A Retrospective single center experience.","authors":"Jean El Cheikh, Ibrahim Hasan, Mustafa Saleh, Zyad Saifi, Mohamad Ammar Al Kouchak, Nour Moukalled, Iman Abu Dalle, Omar Fakhreddine, Ali Bazarbachi, Hadi Skouri","doi":"10.46989/001c.140766","DOIUrl":"10.46989/001c.140766","url":null,"abstract":"<p><p>Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is considered the best cure for many hematologic diseases, but it is associated with multiple short and long term cardiovascular adverse effects. This retrospective study assesses the short-term cardiovascular consequences after allo-HSCT and compares the risk of developing cardiotoxicity based on conditioning regimens and post-transplant prophylactic medications. A total of 310 patients were identified at the American University of Beirut Medical Center (AUBMC), of whom 255 were followed up for 100 days post-transplant. There was a significant decrease in left ventricular ejection fraction (LVEF), from a mean of 59.14% pre-transplant to 58.44% post-transplant (P= 0.037). Significant decreases were also noted in the E wave, E' wave, and E/A ratio (P <0.01, <0.001, and 0.006, respectively), while no significant changes were observed in A wave or E/E' ratio (P= 0.197 and 0.078, respectively). No significant decrease in global longitudinal strain was noted (P=0.18). Haploidentical transplants, cyclophosphamide, and sequential conditioning regimens were associated with reduced LVEF (P= 0.002, 0.007 and 0.019, respectively). Among those followed up for 100 days, 8 patients (3.2%) developed moderate or large pericardial effusion. While the average decrease in LVEF was of no clinical significance, the percentage of patients with reduced LVEF (<50%) increased from 3.1% pre-transplant to 6.7% at 100 days. These subclinical changes in LVEF and diastolic measurements are not fully understood. We recommend serial echocardiographic follow-ups to assess their potential clinical relevance and the risk of cardiotoxicity later in life, particularly those undergoing haploidentical transplant, receiving cyclophosphamide or sequential conditioning regimens.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 3","pages":"1-13"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12226929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577245","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}
引用次数: 0
Moving the Needle in KMT2A Rearranged Pediatric B-Cell Acute Lymphoblastic Leukemia: Newer agents and novel approaches. 移动KMT2A重排儿童b细胞急性淋巴细胞白血病的针头:新药和新方法。
Clinical hematology international Pub Date : 2025-06-27 eCollection Date: 2025-01-01 DOI: 10.46989/001c.141198
Anwesha Ray, Aditi Jain, Mona Vijayaran, Steve Thomas, Jayastu Senapati, Mukul Aggarwal
{"title":"Moving the Needle in KMT2A Rearranged Pediatric B-Cell Acute Lymphoblastic Leukemia: Newer agents and novel approaches.","authors":"Anwesha Ray, Aditi Jain, Mona Vijayaran, Steve Thomas, Jayastu Senapati, Mukul Aggarwal","doi":"10.46989/001c.141198","DOIUrl":"10.46989/001c.141198","url":null,"abstract":"<p><p>Pediatric B-cell acute lymphoblastic leukemia (B-ALL) has been the poster child of progressive success in the development of leukemia therapy. Among the genomically defined high-risk subtypes of B-ALL are those with <i>KMT2A</i>-rearrangement (r) which are associated with inferior outcomes with chemotherapy-based approaches. <i>KMT2A</i>-r ALL is most common in the infantile period but can be seen beyond it and has remained a therapeutic challenge. Recent clinical trials have shown a significant improvement in response rates and survival outcomes in infantile and pediatric non-infant patients with <i>KMT2A</i>-r B-ALL when treated with blinatumomab-containing regimens. A single course of sequential blinatumomab added to Interfant-06 chemotherapy led to an exceptional improvement in 2-year disease free survival to 82% compared to 49% from historical chemotherapy only approach. In the salvage settings the use of tisagenlecleucel chimeric antigen receptor (CAR) T-cell therapy has led to high response rates and durable remissions in pediatric <i>KMT2A</i>-r B-ALL. Recently, inotuzumab ozogamicin was approved in pediatric (>1 year) relapsed/refractory B-ALL, widening immunotherapy-based salvage options. However, the efficacy of inotuzumab in <i>KMT2A</i>-r B-ALL remains questionable, given lower CD22 expression in this ALL genotype. Additionally, the approval of menin inhibitors like revumenib in <i>KMT2A</i>-r pediatric acute leukemias provides another treatment option in the salvage setting for this high-risk pediatric B-ALL subtype. These targeted agents are positively altering the treatment approaches and outcomes in pediatric <i>KMT2A</i>-r B-ALL, and the use of better residual disease monitoring with next generation sequencing might further help to refine treatment approaches in such high-risk pediatric ALL.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 2","pages":"65-73"},"PeriodicalIF":0.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12206480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144531651","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}
引用次数: 0
Clinical Characteristics and Treatment Outcomes of Acute Myeloid Leukemia in Adolescent and Young Adult versus Adult Patients: A Single-Center Experience in Qatar. 青少年和青年急性髓性白血病与成人患者的临床特征和治疗结果:卡塔尔的单中心研究
Clinical hematology international Pub Date : 2025-06-23 eCollection Date: 2025-01-01 DOI: 10.46989/001c.140933
Shehab Fareed, Abdulrahman Fadhl Al-Mashdali, Hawraa Shwaylia, Yahya Mulikandathil, Awni Alshurafa, Sarah Aldali, Deena Sideeg Mudawi, Dina Soliman, Feryal Abbas, Mohammed Abdulgayoom, Anil Yousef, Kaplana Singh, Honar Cherif, Mohamed Yassin
{"title":"Clinical Characteristics and Treatment Outcomes of Acute Myeloid Leukemia in Adolescent and Young Adult versus Adult Patients: A Single-Center Experience in Qatar.","authors":"Shehab Fareed, Abdulrahman Fadhl Al-Mashdali, Hawraa Shwaylia, Yahya Mulikandathil, Awni Alshurafa, Sarah Aldali, Deena Sideeg Mudawi, Dina Soliman, Feryal Abbas, Mohammed Abdulgayoom, Anil Yousef, Kaplana Singh, Honar Cherif, Mohamed Yassin","doi":"10.46989/001c.140933","DOIUrl":"10.46989/001c.140933","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) presents differently across age groups, with unique challenges in the adolescent and young adult (AYA) populations. This study compares clinical characteristics and outcomes between AYA and adult AML patients in Qatar. We conducted a retrospective analysis of 151 AML patients treated at the National Center for Cancer Care and Research, Qatar, between 2017-2021. Patients were divided into AYA (15-39 years, n=73) and adults (≥40 years, n=78) groups. Clinical characteristics, cytogenetic profiles, treatment approaches and survival outcomes were compared between groups. AYA patients (median age 30 years) showed distinct characteristics compared to adults (median age 53.9 years). AYA patients had lower platelet counts (62,900/mm³ versus 96,500/mm³, p=0.016) and higher blast percentages in peripheral blood and bone marrow (60% versus 40%, p=0.02). Core binding factor rearrangements were more common in AYA patients (32% versus 12%, p=0.03), while adult patients had more diploid karyotypes (55% versus 36%). AYA patients received more intensive therapy, with higher rates of FLAG-Ida salvage therapy (34% versus 15%) and allogeneic transplantation (32% versus 15%, p=0.01). While transplantation significantly improved survival in adults, its impact was less pronounced in AYA patients. Median overall survival was comparable between groups (23.14 versus 24.08 months, p=0.09). Our study reveals distinct biological and clinical characteristics between AYA and adult AML patients in Qatar. Despite receiving more intensive therapy, AYA patients showed comparable survival outcomes to adults, suggesting the need for age-specific treatment approaches. The differential impact of transplantation between age groups highlights the importance of personalized treatment strategies. These findings contribute to understanding age-specific differences in AML and may help optimize treatment approaches for both populations.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 2","pages":"55-64"},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12189011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144499840","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}
引用次数: 0
Genetic and Clinical Progression of MYSM1 Related Bone Marrow Failure into Myeloid Malignancies: Case Series and Review of Literature. MYSM1相关骨髓衰竭转化为髓系恶性肿瘤的遗传和临床进展:病例系列和文献综述
Clinical hematology international Pub Date : 2025-06-16 eCollection Date: 2025-01-01 DOI: 10.46989/001c.138314
Alfadil Haroon, Syed Osman Ahmed, Chokri Ben Lamine, Mahmoud Aljurf, Hazzaa Alzahrani
{"title":"Genetic and Clinical Progression of MYSM1 Related Bone Marrow Failure into Myeloid Malignancies: Case Series and Review of Literature.","authors":"Alfadil Haroon, Syed Osman Ahmed, Chokri Ben Lamine, Mahmoud Aljurf, Hazzaa Alzahrani","doi":"10.46989/001c.138314","DOIUrl":"10.46989/001c.138314","url":null,"abstract":"<p><p>MYSM1, located on chromosome 1p32.1, encodes histone H2A deubiquitinase, a transcription regulator involved in DNA damage response. Biallelic MYSM1 variants are linked to rare bone marrow failure syndromes, presenting with cytopenia, B-cell deficiency, hypogammaglobulinemia, and developmental abnormalities. We report four cases of MYSM1 mutations progressing from marrow failure to MDS or AML within 9-10 years. Genetic abnormalities, including TP53 mutation and chromosomal anomalies, suggest clonal evolution. Hematopoietic stem cell transplantation achieved remission in two patients with adverse cytogenetics. Further research is needed to refine management strategies and assess long-term outcomes in MYSM1-associated marrow failure and MDS.</p>","PeriodicalId":93942,"journal":{"name":"Clinical hematology international","volume":"7 2","pages":"46-54"},"PeriodicalIF":0.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328128","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}
引用次数: 0
Impact of Anemia Management on Bleeding Outcomes in Anticoagulated Patients: A Retrospective Cohort Analysis. 贫血管理对抗凝患者出血结局的影响:回顾性队列分析。
Clinical hematology international Pub Date : 2025-05-27 eCollection Date: 2025-01-01 DOI: 10.46989/001c.138102
Shea-Lee Godin, Christopher Hanna, Edgar Naut, Sudhanshu Mulay
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