EJHaem最新文献

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X-Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report 男性兄弟姐妹中由内含子ALAS2变异引起的x连锁铁母细胞贫血,导致高度可变的表达表型
EJHaem Pub Date : 2025-05-19 DOI: 10.1002/jha2.70060
James O'Connor, Niall Mannion, Caoimhe McKenna, Kerrie Sweeney, Aaron Niblock
{"title":"X-Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report","authors":"James O'Connor,&nbsp;Niall Mannion,&nbsp;Caoimhe McKenna,&nbsp;Kerrie Sweeney,&nbsp;Aaron Niblock","doi":"10.1002/jha2.70060","DOIUrl":"https://doi.org/10.1002/jha2.70060","url":null,"abstract":"<p>X-linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the <i>ALAS2</i> gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother displayed only mild microcytic hypochromic indices without anaemia. Initial genetic screening did not identify a pathogenic variant. However, duo exome sequencing later revealed an intronic <i>ALAS2</i> mutation, initially categorised as of uncertain significance and subsequently reclassified as pathogenic. This case underscores the diagnostic challenges posed by intronic mutations and the highly variable expressivity of XLSA, even among siblings.</p><p><b>Trial Registration</b>: The authors have confirmed clinical trial registration is not needed for this submission.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70060","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085072","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
Correction to “Weight Loss and Dysgeusia in Relapsed/Refractory Multiple Myeloma Patients Treated With Talquetamab” 对“复发/难治性多发性骨髓瘤患者接受Talquetamab治疗后体重减轻和认知障碍”的更正
EJHaem Pub Date : 2025-05-19 DOI: 10.1002/jha2.70052
{"title":"Correction to “Weight Loss and Dysgeusia in Relapsed/Refractory Multiple Myeloma Patients Treated With Talquetamab”","authors":"","doi":"10.1002/jha2.70052","DOIUrl":"https://doi.org/10.1002/jha2.70052","url":null,"abstract":"<p>Naqvi S, Shrestha A, Alzubi M, Alrawabdeh J, Thanendrarajan S, Zangari M, et al. Weight loss and dysgeusia in relapsed/refractory multiple myeloma patients treated with talquetamab. eJHaem. 2024;5:789–792. doi: 10.1002/jha2.971</p><p>Carolina Schinke has mistakenly not declared her Conflict of Interest and would like to add a sentence stating “CS has participated in Advisory Board Meetings of Janssen, Pfizer and Arcellx”.</p><p>We apologize for this error.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085073","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
Correction to “B-cell Maturation Antigen-Based Therapies Post-Talquetamab in Relapsed or Refractory Multiple Myeloma” 对“b细胞成熟抗原治疗复发或难治性多发性骨髓瘤”的修正
EJHaem Pub Date : 2025-05-19 DOI: 10.1002/jha2.70056
{"title":"Correction to “B-cell Maturation Antigen-Based Therapies Post-Talquetamab in Relapsed or Refractory Multiple Myeloma”","authors":"","doi":"10.1002/jha2.70056","DOIUrl":"https://doi.org/10.1002/jha2.70056","url":null,"abstract":"<p>Shrestha A, Alzubi M, Alrawabdeh J, Schinke C, Thanendrarajan S, Zangari M, et al. B-cell maturation antigen-based therapies post-talquetamab in relapsed or refractory multiple myeloma. eJHaem. 2024;5:554-59. doi:10.1002/jha2.896</p><p>Carolina Schinke has mistakenly not declared her Conflict of Interest and would like to add a sentence stating “CS has participated in Advisory Board Meetings of Janssen, Pfizer and Arcellx”.</p><p>We apologize for this error.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085070","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
Correction to “Real-World Practitioner Perceptions of CARTITUDE-4 Results for Patients With Previously Treated Multiple Myeloma” 更正“现实世界从业者对先前治疗过的多发性骨髓瘤患者的cartitute -4结果的看法”
EJHaem Pub Date : 2025-05-19 DOI: 10.1002/jha2.70050
{"title":"Correction to “Real-World Practitioner Perceptions of CARTITUDE-4 Results for Patients With Previously Treated Multiple Myeloma”","authors":"","doi":"10.1002/jha2.70050","DOIUrl":"https://doi.org/10.1002/jha2.70050","url":null,"abstract":"<p>Balanean A, Baird S, Dulka B, Jennings-Zhang L, Bone RN, Jeune-Smith Y, et al. Real-world practitioner perceptions of CARTITUDE-4 results for patients with previously treated multiple myeloma. eJHaem. 2024;5:1154-64. https://doi.org/10.1002/jha2.1047</p><p>In Figure 3 the “After” percentages for two response options were inadvertently transposed in the figure, creating an inconsistency with the description provided in the text.</p><p>Specifically:</p><p>The “After” result for the response option “I favor CAR T-cell therapy in earlier lines (e.g., 2L or 3L settings)” should be 55% (not 31%).</p><p>The “After” result for the response option “I want real-world and long-term outcomes data on CAR T-cell therapy in any line” should be 31% (not 55%).</p><p>We apologize for this error.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085071","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 Reduction in Myeloid-derived Suppressor Cells by Wilms’ Tumor 1-targeted Dendritic Cell Vaccines on Clinical Outcomes in Acute Leukemia Patients Wilms肿瘤1靶向树突状细胞疫苗减少髓源性抑制细胞对急性白血病患者临床结局的影响
EJHaem Pub Date : 2025-05-14 DOI: 10.1002/jha2.70048
Masahiro Ogasawara, Mamiko Miyashita, Yuka Yamagishi, Shuichi Ota
{"title":"Impact of Reduction in Myeloid-derived Suppressor Cells by Wilms’ Tumor 1-targeted Dendritic Cell Vaccines on Clinical Outcomes in Acute Leukemia Patients","authors":"Masahiro Ogasawara,&nbsp;Mamiko Miyashita,&nbsp;Yuka Yamagishi,&nbsp;Shuichi Ota","doi":"10.1002/jha2.70048","DOIUrl":"https://doi.org/10.1002/jha2.70048","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Myeloid-derived suppressor cells (MDSCs) play a critical role in immunotherapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We investigated the effects of the Wilms' tumor 1 (WT1) peptide-loaded dendritic cell (DC) vaccination on MDSCs in patients with acute leukemia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>WT1-DC vaccination reduced MDSCs and enhanced WT1-specific immunity. In complete remission patients, MDSC reduction was accompanied by decreased arginase 1 and indoleamine 2,3-dioxygenase levels and increased interleukin (IL)-12 and interferon-γ levels in plasma. Conversely, patients with disease progression showed increased IL-10 and transforming growth factor-β1. Reduced MDSCs were correlated with WT1-specific immune activation and associated with longer survival.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings indicate that WT1-DC vaccination suppresses MDSCs and improves clinical outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Clinical Trial Registration</h3>\u0000 \u0000 <p>This study is registered with the University Hospital Medical Information Network (UMIN) in Japan (Registration ID: UMIN000027279).</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143950207","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
Phase 2 Multi-Arm Study of Magrolimab Combinations in Patients With Acute Myeloid Leukaemia
EJHaem Pub Date : 2025-05-13 DOI: 10.1002/jha2.70051
Gabriel N. Mannis, Camille N. Abboud, Naval G. Daver, Guru Subramanian Guru Murthy, Eunice S. Wang, Terrence J. Bradley, George Yaghmour, Pankit Vachhani, Suresh Kumar Balasubramanian, Chong Chyn Chua, Chun Yew Fong, Adam S. Asch, Mei Dong, Shuang Li, Taravat Bagheri, Parul Doshi, Paresh Vyas, Monzr M. Al Malki
{"title":"Phase 2 Multi-Arm Study of Magrolimab Combinations in Patients With Acute Myeloid Leukaemia","authors":"Gabriel N. Mannis,&nbsp;Camille N. Abboud,&nbsp;Naval G. Daver,&nbsp;Guru Subramanian Guru Murthy,&nbsp;Eunice S. Wang,&nbsp;Terrence J. Bradley,&nbsp;George Yaghmour,&nbsp;Pankit Vachhani,&nbsp;Suresh Kumar Balasubramanian,&nbsp;Chong Chyn Chua,&nbsp;Chun Yew Fong,&nbsp;Adam S. Asch,&nbsp;Mei Dong,&nbsp;Shuang Li,&nbsp;Taravat Bagheri,&nbsp;Parul Doshi,&nbsp;Paresh Vyas,&nbsp;Monzr M. Al Malki","doi":"10.1002/jha2.70051","DOIUrl":"https://doi.org/10.1002/jha2.70051","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>This phase 2 study evaluated magrolimab+venetoclax (VEN)+azacitidine (AZA) in untreated, unfit acute myeloid leukaemia (AML) and magrolimab+mitoxantrone+etoposide+cytarabine in relapsed/refractory (R/R) AML.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Endpoints included complete remission rate (CRR), overall response rate (ORR), overall survival (OS) and safety.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eighteen and 36 patients were enrolled into the unfit and R/R AML arms, respectively. CRR was 38.9% and 25.0%, ORR was 66.7% and 38.9%, and median OS was 15.3 and 10.5 months in the unfit AML and R/R AML arms, respectively. No dose-limiting toxicities or magrolimab-related deaths occurred.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Magrolimab was safely combined with existing AML therapies with no new safety signals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Clinical Trial Registration</h3>\u0000 \u0000 <p>This trail was registered at <span>www.clinicaltrials.gov</span> as NCT04778410.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143944467","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
Assessment of the Tolerability and Optimal Dosing of the Combination of Brentuximab Vedotin and Lenalidomide in Patients With Relapsed or Refractory T-cell Lymphoma: Results of a Single-centre Phase 1 Dose-escalation Study
EJHaem Pub Date : 2025-05-13 DOI: 10.1002/jha2.70033
Carrie van der Weyden, Mathias Bressel, Amit Khot, Henry Miles Prince, Michael Dickinson
{"title":"Assessment of the Tolerability and Optimal Dosing of the Combination of Brentuximab Vedotin and Lenalidomide in Patients With Relapsed or Refractory T-cell Lymphoma: Results of a Single-centre Phase 1 Dose-escalation Study","authors":"Carrie van der Weyden,&nbsp;Mathias Bressel,&nbsp;Amit Khot,&nbsp;Henry Miles Prince,&nbsp;Michael Dickinson","doi":"10.1002/jha2.70033","DOIUrl":"https://doi.org/10.1002/jha2.70033","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We report the results of a pilot study investigating the combination of brentuximab vedotin (BV) and lenalidomide in patients with relapsed/ refractory T-cell lymphoma.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A dose escalation study design was utilized. Primary and secondary endpoints included maximum tolerated dose (MTD), adverse events, and response rates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Six patients were treated with BV and two dose levels of lenalidomide, in 21-day cycles. The protocol-determined MTD was BV 1.8 mg/kg and lenalidomide 25 mg, however, all patients required subsequent dose reductions with ongoing treatment. The most common adverse event was peripheral neuropathy in four of six patients. Two patients achieved complete responses and three achieved partial responses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion:</h3>\u0000 \u0000 <p>The combination is deliverable with dose attenuation. Further study is needed to define clinical benefit.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Clinical Trial Registration</h3>\u0000 \u0000 <p>This trial was registered on ClinicalTrials.gov (NCT number 03302728).</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70033","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143944468","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
A Single-Center Study on Frontline Treatment for Multiple Myeloma Patients With 1q Abnormalities 多发性骨髓瘤1q异常患者一线治疗的单中心研究
EJHaem Pub Date : 2025-05-11 DOI: 10.1002/jha2.70045
Ashish Patel, Esther Masih-Khan, Adam Smith, Katherine Lajkosz, Sita Bhella, Christine Chen, Anca Prica, Donna Reece, A. Keith Stewart, Roger Tiedemann, Suzanne Trudel, Chloe Yang, Guido Lancman, Vishal Kukreti
{"title":"A Single-Center Study on Frontline Treatment for Multiple Myeloma Patients With 1q Abnormalities","authors":"Ashish Patel,&nbsp;Esther Masih-Khan,&nbsp;Adam Smith,&nbsp;Katherine Lajkosz,&nbsp;Sita Bhella,&nbsp;Christine Chen,&nbsp;Anca Prica,&nbsp;Donna Reece,&nbsp;A. Keith Stewart,&nbsp;Roger Tiedemann,&nbsp;Suzanne Trudel,&nbsp;Chloe Yang,&nbsp;Guido Lancman,&nbsp;Vishal Kukreti","doi":"10.1002/jha2.70045","DOIUrl":"https://doi.org/10.1002/jha2.70045","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Chromosome 1q copy gains (with-1q-gain) is a frequently observed genetic abnormality in multiple myeloma (MM) patients. Recent research has demonstrated that 1q gain is a prognostic factor, linked to poorer clinical outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study was conducted at the Princess Margaret Cancer Centre to examine the clinical outcomes of newly diagnosed MM patients’ with-1q-gain or without-1q-gain abnormality. The study included 275 patients, with 161 (58.5%) with-1q-gain abnormality. The median follow-up time for the cohort was 94.3 months (95% CI 30.1–38.6).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patients’ with-1q-gain when compared to without-1q-gain were more likely to have other high-risk cytogenetic abnormalities (34.8% vs. 14.0%, <i>p</i> &lt; 0.001) and more advanced disease according to the International Staging System (ISS III, <i>p</i> &lt; 0.014). Furthermore, a relatively higher proportion of with-1q-gain patients received tandem autologous stem cell transplant (ASCT) as frontline therapy (36.2% vs. 8.7%, <i>p</i> ≤ 0.001).</p>\u0000 \u0000 <p>To assess the impact of 1q copy number, patients with 3 copies of 1q (1q-gain3) were compared to those with ≥4 copies (1q-Amp). No significant differences were observed between the two groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In conclusion, our study provides insight into the clinical significance of 1q gain abnormality in MM patients at a single center, and highlights its association with adverse prognostic features and treatment outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932286","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
Treatment of an Indolent T-Cell Lymphoma of the Gastrointestinal Tract Harboring STAT3::JAK2 With Jakafi (Ruxolitinib) With Significant Clinical Improvements Jakafi (Ruxolitinib)治疗含有STAT3::JAK2的胃肠道惰性t细胞淋巴瘤临床疗效显著
EJHaem Pub Date : 2025-05-08 DOI: 10.1002/jha2.70047
Xi Cao, Carolyn Mulroney, Huan-You Wang
{"title":"Treatment of an Indolent T-Cell Lymphoma of the Gastrointestinal Tract Harboring STAT3::JAK2 With Jakafi (Ruxolitinib) With Significant Clinical Improvements","authors":"Xi Cao,&nbsp;Carolyn Mulroney,&nbsp;Huan-You Wang","doi":"10.1002/jha2.70047","DOIUrl":"https://doi.org/10.1002/jha2.70047","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Indolent T-cell lymphoma of the gastrointestinal tract (ITCL-GI) is a rare primary T-cell lymphoma from the gastrointestinal (GI) tract, there has been no documented successful treatment at the present time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A CD4(+)/CD8(−) ITCL-GI with <i>STAT3::JAK2</i> fusion was treated with Jakafi (Ruxolitinib), which resulted in significant clinical improvements.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Next generation sequencing is highly recommended for any new diagnosis of CD4(+)/CD8(−) ITCL-GI in order to detect if <i>STAT3::JAK2</i> can be found in order to treat the patient with JAK2 inhibitor such as Jakafi (Ruxolitinib).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Clinical trial registration</h3>\u0000 \u0000 <p>The authors have confirmed clinical trial registration is not needed for this submission.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143925966","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
Hematopoietic Stem Cell Transplantation Outcomes in Diamond–Blackfan Anemia Patients Based on Myeloablative Conditioning Regimen With or Without Total Body Irradiation: A Systematic Review and Meta-Analysis Diamond-Blackfan贫血患者在有或没有全身照射的清髓调理方案基础上的造血干细胞移植结果:一项系统回顾和荟萃分析
EJHaem Pub Date : 2025-05-08 DOI: 10.1002/jha2.70043
Parsa Fathi, Leila Jafari, Afshin Fathi, Ayat Ahmadi, Yalda Karamlou, Maryam Behfar, Amir Ali Hamidieh
{"title":"Hematopoietic Stem Cell Transplantation Outcomes in Diamond–Blackfan Anemia Patients Based on Myeloablative Conditioning Regimen With or Without Total Body Irradiation: A Systematic Review and Meta-Analysis","authors":"Parsa Fathi,&nbsp;Leila Jafari,&nbsp;Afshin Fathi,&nbsp;Ayat Ahmadi,&nbsp;Yalda Karamlou,&nbsp;Maryam Behfar,&nbsp;Amir Ali Hamidieh","doi":"10.1002/jha2.70043","DOIUrl":"https://doi.org/10.1002/jha2.70043","url":null,"abstract":"<p>Diamond–Blackfan anemia (DBA) is a rare, congenital bone marrow failure syndrome characterized by hypoplastic anemia. Earliest descriptions of this disease date back to 1936, and since then, a plethora of treatment strategies have been used to control or treat the disease. In recent decades, hematopoietic stem cell transplantation (HSCT) has been declared the only curative treatment. Despite the time elapsing from the first time HSCT has been used in this setting, no unified standard preparative and prophylactic protocol has been established. In this article, for the first time, the published articles concerning the efficacy of the most verified conditioning regimens established for these patients, the myeloablative conditioning regimen (MAC), were systematically reviewed. A comparison of two groups, based on the presence or absence of radiation in their protocol, was performed. Electronic and manual searches were conducted on PubMed, Scopus, and Web of Science. The primary study domains, selection, and outcome were assessed using the JBI Scale quality assessment for cohort and case series studies. Cohorts were categorized into treatment groups, and the characteristics of patients and donors, in addition to intervention characteristics and outcomes, were synthesized. Among a total of 196 studies reviewed, we included five cohorts in our systematic review. The studies were heterogeneous in various aspects. In conclusion, our analysis suggests that DBA patients who underwent a MAC non-total body irradiation (TBI) conditioning regimen may experience better post-HSCT outcomes; however, the findings are inconclusive.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jha2.70043","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143925965","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
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