Hematology Reports最新文献

{"title":"Double Trouble: The First Reported Case of Evans Syndrome Following RSV Vaccination.","authors":"Mohammad Abu-Tineh, Deepika Beereddy, Ilse Ivonne Saldivar Ruiz, Divya Samat","doi":"10.3390/hematolrep17060068","DOIUrl":"10.3390/hematolrep17060068","url":null,"abstract":"<p><p><b>Background:</b> Evans syndrome is a rare autoimmune disease characterized by immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia, typically triggered by an episode of immune dysregulation or multiple other factors. We present what appears to be the first reported case of Evans syndrome developing in a 66-year-old female following respiratory syncytial virus (RSV) vaccination. <b>Case Presentation:</b> A 66-year-old female presented with a petechial rash on her arms, legs, and face. Laboratory tests revealed a platelet count of 1 × 10⁹/L, significantly lower than her historical baseline of >200 × 10⁹/L. On hospital day 4, her hemoglobin declined from 14.3 g/dL to 9.9 g/dL, with laboratory evidence of hemolysis, including elevated bilirubin, low haptoglobin, and increased lactate dehydrogenase (LDH). Bone marrow biopsy revealed megakaryocytic hyperplasia consistent with ITP, along with a small polyclonal B-cell population lacking CD20 expression. Imaging was unremarkable, showing no interval changes aside from stable pre-existing pulmonary nodules and no lymphadenopathy. These findings supported a diagnosis of Evans syndrome. Initial therapy with dexamethasone and intravenous immunoglobulin (IVIG) for presumed ITP was ineffective. Due to refractory thrombocytopenia, the patient initially received one dose of rituximab, followed by one dose of romiplostim. Subsequently, the patient received rituximab infusions every week at a rate of 375 mg/m² for four doses, as well as prednisone at a dose of 1 mg/kg/day. Within five weeks, her blood count returned to normal. <b>Conclusions:</b> This case raises concern for a potential temporal association between RSV vaccination and the onset of Evans syndrome. It underscores the need for heightened clinical awareness and further investigation into immune-mediated hematologic complications following RSV immunization.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12733003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819140","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":"Clinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region.","authors":"Ugo Testa, Germana Castelli, Elvira Pelosi","doi":"10.3390/hematolrep17060067","DOIUrl":"10.3390/hematolrep17060067","url":null,"abstract":"<p><p>The only cytogenetic alteration defining a subtype of a myelodysplastic syndrome is represented by the deletion of the long arm of chromosome 5 (del(5q)), now classified as MDS with isolated del(5q). This subtype is associated with a peculiar phenotype mainly dependent on the haploinsufficiency of several genes located on the deleted arm of chromosome 5. These patients show a good prognosis and respond to treatment with lenalidomide, but some cases progress to acute myeloid leukemia. Molecular studies have, in part, elucidated the heterogeneity of MDS with isolated del(5q), mainly related to the association with different co-mutations that may affect leukemic transformation and survival. In other MDS patients, del(5q) is combined with other chromosomal abnormalities, giving rise to a condition of complex karyotype, associated with frequent <i>TP53</i> mutations and with a poor prognosis. Two different molecular pathways seem to be responsible for the generation of MDS with isolated del(5q) or of MDS with del(5q) associated with a complex karyotype.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12732826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819178","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 Promyelocytic Leukemia: Pathophysiology, Diagnosis and Clinical Management.","authors":"Meryeme Abddaoui, Youssef Aghlallou, Imane Tlemçani, Moncef Amrani Hassani","doi":"10.3390/hematolrep17060066","DOIUrl":"10.3390/hematolrep17060066","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia characterized by the t(15;17)(q24;q21) translocation, generating the <i>PML::RARA</i> fusion gene that blocks myeloid differentiation and drives leukemogenesis. Despite advances in therapy, early mortality remains a major challenge due to severe coagulopathy. This review aims to summarize recent insights into APL pathophysiology, diagnostic approaches, and management strategies. <b>Methods:</b> We performed a comprehensive review of the literature addressing the molecular mechanisms of APL, its associated coagulopathy, and current diagnostic and therapeutic standards, with a focus on evidence-based recommendations for clinical practice. <b>Results:</b> The hallmark PML: RARA oncoprotein disrupts nuclear body function and retinoic acid signaling, resulting in differentiation arrest and apoptosis resistance. APL-associated coagulopathy arises from overexpression of tissue factor, release of cancer procoagulant, inflammatory cytokines, and annexin II-mediated hyperfibrinolysis. Diagnosis requires integration of cytomorphology, immunophenotyping, coagulation studies, and molecular confirmation. Immediate initiation of all-trans-retinoic acid (ATRA) upon clinical suspicion, combined with aggressive supportive care, is critical to control bleeding risk. <b>Conclusions:</b> APL is now a highly curable leukemia when recognized early and treated with targeted therapy. Rapid diagnosis, prompt ATRA administration, and meticulous hemostatic support are essential to reduce early mortality. Further refinements in minimal residual disease monitoring are expected to improve patient outcomes.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12732535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819115","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":"Hodgkin Lymphoma Associated with Common Variable Immunodeficiency: The Role of Early Diagnosis and Multidisciplinary Management.","authors":"Dávid Tóthfalusi, Anita Gulyás, Anna Koncz, Éva Zöld, Árpád Illés, Zsófia Miltényi","doi":"10.3390/hematolrep17060065","DOIUrl":"10.3390/hematolrep17060065","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Hodgkin lymphoma (HL) represents a rare but clinically significant complication in patients with Common Variable Immunodeficiency (CVID). Immune dysregulation, impaired viral control, and Epstein-Barr virus (EBV) infection may contribute to pathogenesis and adversely affect treatment tolerance. This case-based review aims to highlight the impact of early CVID recognition and multidisciplinary management on outcomes in CVID-associated HL. <b>Methods</b>: A retrospective screening of 224 patients with HL treated at our institution between 2010 and 2023 identified two individuals with CVID and EBV-positive HL. These cases are presented in detail and contextualized within a structured review of the published literature. <b>Results</b>: The first patient, diagnosed with CVID prior to HL onset, received immunoglobulin replacement and a modified chemotherapy regimen substituting bleomycin with brentuximab vedotin, resulting in sustained complete remission. The second patient, in whom CVID was recognized only after HL relapse, experienced recurrent infections, intolerance to therapy, and fatal disease progression despite treatment with brentuximab vedotin, checkpoint inhibition, and rituximab. The literature review revealed only eight comparable cases, underscoring the rarity and complexity of this association. <b>Conclusions</b>: Early identification of CVID facilitates infection control and enhances tolerance to HL therapy, thereby improving clinical outcomes. Multidisciplinary, individualized management and incorporation of targeted agents are pivotal in optimizing care for this vulnerable population.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12732425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819192","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":"Diagnostic Challenges in a Young Man with a Suspected Mast Cell Disorder, Dysplastic Bone Marrow Morphology, and a <i>ZRSR2</i> Mutation.","authors":"Riccardo Dondolin, Nawar Maher, Annalisa Andorno, Sayed Masoud Sayedi, Mohammad Reshad Nawabi, Andrea Patriarca, Gianluca Gaidano, Riccardo Moia","doi":"10.3390/hematolrep17060064","DOIUrl":"10.3390/hematolrep17060064","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Mastocytosis and mast cell activation syndrome (MCAS) include conditions in which patients manifest signs, symptoms, and laboratory findings consistent with mast cell activation and can only be diagnosed in the presence of specific criteria. Mutations of <i>ZRSR2</i>, a gene involved in RNA splicing, are not closely associated with mast cell disorders, but rather with myelodysplastic syndromes development. <b>Case Presentation:</b> We report a case of a 37-year-old man who was referred to our institution for anaphylaxis after a bee sting and elevated serum tryptase levels (17.8 ng/mL in the first sample and 19.2 ng/mL in the second sample). Complete blood count was unremarkable. Bone marrow biopsy showed signs of dysplasia and some CD25+ mast cells. ASO-qPCR and targeted myeloid NGS analysis did not detect the <i>KIT</i> p.D816V mutation, but rather showed the presence of a pathogenetic variant of the <i>ZRSR2</i> gene (p.S447_R448del) with a variant allele frequency of 7.4%. Mastocytosis could not be diagnosed based on the established diagnostic criteria. The patient's symptoms were not recurrent and tryptase release was not event-related; therefore, a diagnosis of MCAS could not be made either. Taken together, these findings led to the diagnosis of clonal hematopoiesis of indeterminate potential (CHIP). A watch and wait strategy consisting of clinical evaluations, blood tests, and cardiovascular risk assessment was initiated. <b>Conclusions:</b> This case report highlights the importance of combining clinical and laboratory findings, hematopathology, and molecular analyses to establish the most probable diagnosis in challenging cases. It also underscores the possible relevance of identifying predisposing conditions, such as CHIP, in order to guide counseling and follow-up strategy.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12732900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819137","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":"Mucosal-Associated Lymphoid Tissue Lymphoma in Southeast Asia: A 15-Year Retrospective Multicenter Study.","authors":"Kannadit Prayongratana, Tanapun Thamgrang, Chonlada Laoruangroj, Lalita Norasetthada, Thanawat Rattanathammethee, Udomsak Bunworasate, Kitsada Wudhikarn, Jakrawadee Julamanee, Panarat Noiperm, Suporn Chuncharunee, Pimjai Niparuck, Archrob Khuhapinant, Noppadol Siritanaratkul, Piyapong Kanya, Kanchana Chansung, Chittima Sirijerachai, Dusit Jit-Uaekul, Juthatip Chaloemwong, Nonglak Kanitsap, Peerapon Wong, Nisa Makruasi, Somchai Wongkhantee, Tawatchai Suwanban, Tanin Intragumtornchai","doi":"10.3390/hematolrep17060063","DOIUrl":"10.3390/hematolrep17060063","url":null,"abstract":"<p><p><b>Objective:</b> To describe the epidemiology, survival rate, and prognostic factors of mucosal-associated lymphoid tissue (MALT) lymphoma. <b>Patients and Methods:</b> This investigation utilized the Thai Lymphoma Study Group (TLSG) registry to gather data on patients diagnosed with MALT lymphoma. The analysis included demographic details, therapeutic interventions, and survival statistics. <b>Results:</b> The TLSG registry prospectively included 8404 patients with lymphoma. Among them, marginal-zone lymphoma (MZL) was the second most common subtype, with 670 histologically confirmed cases, accounting for 8.0% of the total cohort. An analysis of the MZL subtypes showed that MALT lymphoma was the most common, accounting for 77.8% of the diagnoses. This was followed by nodal MZL at 17.5% and splenic MZL at 7.7%. The distribution of primary disease sites indicated that the ocular adnexa (49.2%), stomach (12.9%), and sinonasal region (12.5%) were the three most common locations. Three variables were found to be statistically significant predictors of survival in the multivariate analysis: ECOG performance status > 2, age exceeding 65 years, and involvement of more than two extranodal organs. These identified prognostic factors were further assessed for their effect on overall survival (OS) and progression-free survival (PFS). A risk classification was established: the low-risk group comprised patients with zero identified risk factors, whereas the high-risk group included patients who had any of the specified risk factors. A comparison of five-year survival rates showed significantly more favorable outcomes for low-risk patients who had a PFS of 83.3% (vs. 66.1%, <i>p</i> = 0.028) and an OS of 97.8% (vs. 76.7%, <i>p</i> < 0.001) compared to the high-risk group. <b>Conclusions:</b> In this cohort, where MZL was the second most common lymphoma and MALT lymphoma was the predominant subtype, our analysis revealed that patients with no risk factors experienced statistically significant improvements in both PFS and OS.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12733359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819075","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":"Classic Coagulation Traits Vary According to Rh(D) (But Not ABO) Blood Groups.","authors":"Gilberto Santos Morais-Junior, Patrícia Dias da Silva, Mayara Barbosa da Silva, Jamila Reis de Oliveira, Andersen Charles Daros, Ciro Martins Gomes, Otávio Toledo Nóbrega","doi":"10.3390/hematolrep17060062","DOIUrl":"10.3390/hematolrep17060062","url":null,"abstract":"<p><p><b>Background:</b> This study evaluated possible variations in classic blood coagulation parameters according to groups formed from the main erythrocyte antigen systems. <b>Methods:</b> Consecutive patients admitted to a transfusion hemotherapy service at a private hospital in the Brazilian Federal District were evaluated for coagulation profile and blood type according to routine laboratory practices. The international normalized ratio (INR), the activated partial thromboplastin time (APTT) and the prothrombin time (PT) were compared according to the ABO blood group and the Rh factor in analyses controlled for classic influencers such as age, sex and comorbidities. <b>Results:</b> No significant differences in coagulation were found between groups defined by the ABO antigen system, despite a body of evidence in favor of this correlation. Rh-positive individuals showed increased mean values in PT (13.7 vs. 12.6 s), in APTT (32.0 vs. 30.1 s) and in INR (1.23 vs. 1.15 s) when compared to the Rh-negative counterparts. <b>Conclusions:</b> Our results suggest a lowered rate of coagulation among Rh-positive individuals, possibly owing to inhibitory effects of the Rh(D) erythrocyte antigen on the coagulation pathway.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12641880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145587117","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":"PD-1 Expression Promotes Immune Evasion in B-ALL.","authors":"Ana Casado-García, Gonzalo García-Aguilera, Julio Pozo, Ninad Oak, Susana Barrena, Belén Ruiz-Corzo, Jaanam Lalchandani, Ana Chamorro-Vera, Ana Castillo-Robleda, Beatriz Soriano, Silvia Alemán-Arteaga, Elena G Sánchez, Jorge Martínez-Cano, Andrea López-Álvarez de Neyra, Paula Somoza-Cotillas, Oscar Blanco, Susana Riesco, Pablo Prieto-Matos, Francisco Javier García Criado, María Begoña García Cenador, César Cobaleda, Carolina Vicente-Dueñas, Kim E Nichols, Alberto Orfao, Manuel Ramírez-Orellana, Isidro Sánchez-García","doi":"10.3390/hematolrep17060061","DOIUrl":"10.3390/hematolrep17060061","url":null,"abstract":"<p><strong>Background/objectives: </strong>In children developing B-cell acute lymphoblastic leukemia (B-ALL), an immune evasion event takes place where otherwise \"silent\" preleukemic cells undergo a malignant transformation while escaping immune control, often through unknown mechanisms.</p><p><strong>Methods and results: </strong>Here, we identify the upregulation of PD-1 expression in preleukemic cells, triggered by <i>Pax5</i> inactivation in mice and correlating with the time of conversion to leukemia, as a novel marker that favors leukemia evasion. This increase in PD-1 expression is apparent across diverse molecular B-ALL subtypes, both in mice and humans. PD-1 is not required for B-cell leukemogenesis, but, in the absence of PD-1, tumor cells express NK cell inhibitory receptors, highlighting the necessity for leukemic cells to evade the host's NK immune response in order to exit the bone marrow. PD-1 expression reduces natural antitumor immune responses, but it sensitizes leukemic cells to immune checkpoint blockade strategies in mice and humans. PD-1 targeting confers clinical benefits by restoring NK-mediated tumor cell killing in vitro and eliminating tumor cells in vivo in mice engrafted with B-ALL.</p><p><strong>Conclusions: </strong>These results identify PD-1 as a new therapeutic target against leukemic progression, providing new opportunities for the treatment and possibly also the prevention of childhood B-ALL.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12641702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145587232","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":"AI Improves Agreement and Reduces Time for Quantifying Metabolic Tumour Burden in Hodgkin Lymphoma.","authors":"May Sadik, Sally F Barrington, Johannes Ulén, Olof Enqvist, Elin Trägårdh, Babak Saboury, Anne Lerberg Nielsen, Annika Loft, Jose Luis Loaiza Gongora, Jesus Lopez Urdaneta, Rajender Kumar, Martijn van Essen, Lars Edenbrandt","doi":"10.3390/hematolrep17060060","DOIUrl":"10.3390/hematolrep17060060","url":null,"abstract":"<p><strong>Background: </strong>The aim was to evaluate whether an artificial intelligence (AI)-based tool for the automated quantification of the total metabolic tumour volume (tMTV) in patients with Hodgkin lymphoma (HL) could support nuclear medicine specialists in lesion segmentation and thereby enhance inter-observer agreement.</p><p><strong>Methods: </strong>Forty-eight consecutive patients who underwent staging with [18F]FDG PET/CT were included. Eight invited specialists from different hospitals were asked to manually segment lesions for tMTV calculations in 12 cases without AI advice, and to use automated AI segmentation in a further 12 cases, with editing as required, i.e., segmenting/adjusting 24 cases each. Each case was segmented by two specialists manually and by two different specialists using the AI tool, allowing for the pairwise comparison of inter-observer variability.</p><p><strong>Results: </strong>The median difference between two specialists performing manual tMTV segmentations was 26 cm³ (IQR 10-86 cm³) corresponding to 23% (IQR 7-50%) of the median tMTV in the dataset, while the median difference between two specialists tMTV adjustments using AI segmentations was 12 cm³ (IQR 4-39 cm³) corresponding to 9% (IQR 2-21%) (<i>p</i> = 0.023). The median difference in tMTV between measurements with and without AI was 3.3 cm³, corresponding to 2.3% of the median tMTV.</p><p><strong>Conclusions: </strong>An automated AI-based tool can significantly increase agreement among specialists quantifying tMTV in HL patients staged with [18F]FDG PET/CT, without markedly changing the measurements.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12641687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145587049","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":"<i>MECOM</i>-Rearranged Acute Myeloid Leukemia: Pathobiology and Management Strategies.","authors":"Utsav Joshi, Rory M Shallis","doi":"10.3390/hematolrep17060059","DOIUrl":"10.3390/hematolrep17060059","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is an aggressive clonal hematopoietic malignancy, characterized by marked biological heterogeneity and variable clinical outcomes. Among its rarer genetic subsets is AML with rearrangements of the <i>MDS1</i> and <i>EVI1</i> complex locus (<i>MECOM</i>), occurring in fewer than 2% of newly diagnosed cases. This review examines the biology and clinical significance of <i>MECOM</i>-rearranged AML, with a focus on its diverse mechanisms of leukemogenesis, including chromosomal inversion and translocation involving 3q26. We discuss how aberrant <i>EVI1/MECOM</i> activity alters gene expression networks and drives malignant transformation. Current therapeutic approaches-including intensive chemotherapy, hypomethylating agents in combination with venetoclax, and allogeneic stem cell transplantation-are evaluated with particular emphasis on inv(3) and other t(3q26) subtypes. Despite these treatment strategies, outcomes remain poor, underscoring the urgent need for novel, more effective therapies for this high-risk form of AML.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 6","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12642003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145587059","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}