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Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared? 血液病学家作为血红蛋白病的遗传顾问:他们准备好了吗?
IF 1.2
Hematology Reports Pub Date : 2025-09-15 DOI: 10.3390/hematolrep17050048
Michael Angastiniotis, Androulla Eleftheriou
{"title":"Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared?","authors":"Michael Angastiniotis, Androulla Eleftheriou","doi":"10.3390/hematolrep17050048","DOIUrl":"10.3390/hematolrep17050048","url":null,"abstract":"<p><p><b>Background/Objectives</b>: In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems. This review focuses on thalassaemias for which many countries have developed screening and prevention programmes. To manage this heavy burden, two approaches were introduced over the years. The first one focused on reducing the annual affected births consequent to appropriate non-directive genetic counselling, offering to the parents the chance to make an informed choice concerning their reproductive lives. The second approach was related to the development of curative treatments such as haematopoietic stem cell transplantation (HSCT) in the early years, with continued ongoing efforts for improvements, followed by successful advances in gene-based holistic cures in more recent years. Genetic counselling is a vital component in successful prevention, aiming at informing individuals who are found to be carriers and couples who are both carriers with a 25% risk at every pregnancy of having an affected child in the case of recessive, Mendelian inheritance. The issues are many, and that may have to be discussed, highlighting the level of skills which a genetic counsellor is expected to possess and utilise appropriately in every counselling session. The concern is that such trained and skilled professionals are few in number and not well integrated into the multidisciplinary groups addressing the control of these complex disorders. It is our experience that for blood disorders, counselling is rarely in the hands of qualified scientists. It is our firm belief that it is necessary to incorporate genetic counselling as an integral part of haematology services. <b>Methods</b>: To investigate current practices we have drawn on the experience of existing programmes, as well as published literature. <b>Results</b>: Currently, in almost all haemoglobinopathy prevention programmes, counselling is offered by the clinicians in charge of clinical care or, in some settings, by the nurse of the clinic or the screening laboratory scientist. <b>Conclusions</b>: The Thalassaemia International Federation suggests and is in the process of developing special training in counselling as part of haematology training, as well as professional development modules for those already in practice. Considering the complexity of the issues that must be discussed, a multidisciplinary approach to counselling should be considered where possible.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112996","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
Tyrosine Kinase Inhibitor Treatment of a Patient with Chronic Myeloid Leukemia and Congenital Thrombophilia. 酪氨酸激酶抑制剂治疗慢性髓系白血病合并先天性血栓病患者。
IF 1.2
Hematology Reports Pub Date : 2025-09-12 DOI: 10.3390/hematolrep17050047
Carol Herrera-Hernández, Adrián Segura-Diaz, Ruth Stuckey, Juan Francisco López-Rodríguez, María Teresa Gómez-Casares
{"title":"Tyrosine Kinase Inhibitor Treatment of a Patient with Chronic Myeloid Leukemia and Congenital Thrombophilia.","authors":"Carol Herrera-Hernández, Adrián Segura-Diaz, Ruth Stuckey, Juan Francisco López-Rodríguez, María Teresa Gómez-Casares","doi":"10.3390/hematolrep17050047","DOIUrl":"10.3390/hematolrep17050047","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Chronic Myeloid Leukemia (CML) management has been revolutionized by tyrosine kinase inhibitors (TKIs), though cardiovascular and thrombotic complications remain a concern, especially in patients with underlying risk factors. Inherited thrombophilia, including protein S deficiency and Factor V Leiden mutation, poses a substantial risk for venous thromboembolism (VTE). Managing CML in patients with such prothrombotic predispositions presents complex therapeutic challenges, particularly in selecting an appropriate TKI and managing anticoagulation. <b>Case Presentation:</b> A 33-year-old woman with congenital thrombophilia (type I protein S deficiency and heterozygous Factor V Leiden mutation) and a history of VTE on long-term anticoagulation with acenocoumarol presented with CML. She exhibited primary resistance to first-line imatinib and poor tolerance with suboptimal response to second-line bosutinib. Third-line treatment with asciminib led to a rapid and sustained major molecular response (MR4.5) without bleeding or thrombotic complications. <b>Conclusions:</b> This case highlights the importance of individualized, multidisciplinary management in CML patients with coexisting thrombophilia. Asciminib, with its favorable cardiovascular safety profile, represents a promising therapeutic option in high-risk patients where other TKIs may be contraindicated due to resistance, intolerance, or thrombotic risk.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112898","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
Prolonged Hematogone Expansion Is Associated with Better Outcomes in Allogeneic Hematopoietic Stem Cell Transplantation Recipients. 同种异体造血干细胞移植受者长时间的造血扩增与更好的预后相关。
IF 1.2
Hematology Reports Pub Date : 2025-09-10 DOI: 10.3390/hematolrep17050046
Bianca Serio, Danilo De Novellis, Marisa Gorrese, Angela Bertolini, Paola Manzo, Francesca Picone, Anna Maria Della Corte, Rossella Marcucci, Denise Morini, Michela Rizzo, Roberto Guariglia, Serena Luponio, Pasqualina Scala, Francesco Verdesca, Anna Maria Sessa, Francesca Velino, Martina De Leucio, Maddalena Langella, Valentina Giudice, Carmine Selleri
{"title":"Prolonged Hematogone Expansion Is Associated with Better Outcomes in Allogeneic Hematopoietic Stem Cell Transplantation Recipients.","authors":"Bianca Serio, Danilo De Novellis, Marisa Gorrese, Angela Bertolini, Paola Manzo, Francesca Picone, Anna Maria Della Corte, Rossella Marcucci, Denise Morini, Michela Rizzo, Roberto Guariglia, Serena Luponio, Pasqualina Scala, Francesco Verdesca, Anna Maria Sessa, Francesca Velino, Martina De Leucio, Maddalena Langella, Valentina Giudice, Carmine Selleri","doi":"10.3390/hematolrep17050046","DOIUrl":"10.3390/hematolrep17050046","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Hematogones, B cell precursors, are considered a clock of bone marrow reconstitution after chemotherapy and hematopoietic stem cell transplantation (HSCT). <b>Methods</b>: In this retrospective observational monocentric study, we investigated the prognostic role of hematogone expansion after allogeneic HSCT and its association with clinical and molecular features. <b>Results</b>: Using a cut-off value of 0.1%, hematogones were detected in 60% of patients at the first re-evaluation after HSCT (median, 2.4%; range, 0.2-9.0%) and in 63% of subjects at the most recent evaluation (MRR) (median, 1.4%; range, 0.1-5.1%). In particular, prolonged hematogone expansion was associated with longer overall survival (<i>p</i> = 0.0043) and relapse-free survival (<i>p</i> = 0.0002). No associations were described between hematogone frequency and stem cell sources or acute or chronic graft versus host disease incidence. <b>Conclusions</b>: In conclusion, our results confirmed that hematogones mirrored bone marrow fitness and reconstitution ability; thus, they could be used as a prognostic marker of HSCT outcomes.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112907","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
Interplay Between Sickle Cell Disease and Thrombosis: A Single Center Experience of Pathophysiology and Potential Risk Factors. 镰状细胞病和血栓之间的相互作用:病理生理学和潜在危险因素的单一中心经验。
IF 1.2
Hematology Reports Pub Date : 2025-09-03 DOI: 10.3390/hematolrep17050045
Rafail Tzanninis, Efthymia Vlachaki, Eleftheria Lefkou, Stavroula Tsiara, Stamatia Theodoridou, Athanasios Vyzantiadis, Miltiadis Matsagkas
{"title":"Interplay Between Sickle Cell Disease and Thrombosis: A Single Center Experience of Pathophysiology and Potential Risk Factors.","authors":"Rafail Tzanninis, Efthymia Vlachaki, Eleftheria Lefkou, Stavroula Tsiara, Stamatia Theodoridou, Athanasios Vyzantiadis, Miltiadis Matsagkas","doi":"10.3390/hematolrep17050045","DOIUrl":"10.3390/hematolrep17050045","url":null,"abstract":"<p><p><b>Background:</b> Sickle cell disease (SCD) is among the most prevalent inherited hemoglobinopathies and is strongly associated with numerous coagulation abnormalities, hence constituting a severe hypercoagulable state. <b>Methods</b>: We conducted a single-center retrospective observational study of patients with SCD who were monitored at Hippokration Hospital of Thessaloniki between 1999 and 2024. Demographic characteristics, hemoglobin (Hb) genotype, medical history, anticoagulant and antiplatelet therapy, dosage of anticoagulant treatment, recurrence of the first episode of venous thromboembolism (VTE) and relevant laboratory values were examined as possible risk factors. <b>Results:</b> Among 46 patients, 12 (26.1%) developed thrombosis with the majority (75%) carrying the HbS/β-thal genotype. The prevalence of VTE in this study was 17.4%. Variables significantly associated with an increased risk of thrombosis included age at the time of thrombosis, patient age, use of anticoagulant treatment, anticoagulant dosage, antiplatelet therapy and type of transfusion (<i>p</i> < 0.05). On multivariate analysis, anticoagulant treatment and its dosage retained statistical significance (<i>p</i> < 0.05). <b>Conclusions:</b> These findings reinforce the strong association between SCD and thrombotic events. Despite the availability of a broad therapeutic armamentarium and increasing knowledge of the underlying disease mechanisms, the prevention and management of thrombosis in these patients remains a challenge.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112854","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
Spontaneous Muscle Bleeding During Oral Anticoagulation Therapy: When Should We Suspect an Underlying Tumor? 口服抗凝治疗中自发性肌肉出血:何时应该怀疑潜在肿瘤?
IF 1.2
Hematology Reports Pub Date : 2025-08-31 DOI: 10.3390/hematolrep17050044
Antonella Mameli, Francesco Marongiu, Mauro Podda, Adolfo Pisanu, Doris Barcellona
{"title":"Spontaneous Muscle Bleeding During Oral Anticoagulation Therapy: When Should We Suspect an Underlying Tumor?","authors":"Antonella Mameli, Francesco Marongiu, Mauro Podda, Adolfo Pisanu, Doris Barcellona","doi":"10.3390/hematolrep17050044","DOIUrl":"10.3390/hematolrep17050044","url":null,"abstract":"<p><p>Spontaneous intramuscular hematomas (SMHs) are rare but potentially serious complications of oral anticoagulation therapy. Although often attributed solely to anticoagulant use, such lesions may mask underlying soft tissue sarcomas or paraneoplastic conditions. We report the case of an 80-year-old man on warfarin who presented with a painful thigh mass initially interpreted as a hematoma but ultimately diagnosed as a malignant fibrous histiocytoma (MFH). In addition, we provide a narrative review of published cases, focusing on clinical presentation, diagnostic challenges, imaging strategies, and outcomes. Key pitfalls leading to delayed diagnosis include attribution bias, inadequate imaging, and premature management decisions. Epidemiological data show that while the incidence of SMHs is estimated at 0.5-1.5% among patients on vitamin K antagonists, clinically significant cases are increasingly reported with direct oral anticoagulants (DOACs). Suggested measures include clinical algorithms to prompt imaging and biopsy in persistent masses, validation of magnetic resonance imaging (MRI) criteria, and the establishment of prospective registries, aimed at facilitating earlier recognition of malignant lesions and improving patient outcomes. These strategies may improve early detection of malignancy and optimize care in anticoagulated patients presenting with soft tissue lesions.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112855","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
Case-Based Insights into Enteropathy-Associated T-Cell Lymphoma-Single-Center Experience. 基于病例的肠病相关t细胞淋巴瘤-单中心经验。
IF 1.2
Hematology Reports Pub Date : 2025-08-27 DOI: 10.3390/hematolrep17050043
Marija Elez, Lavinika Atanasković, Svetlana Mirosavljević, Mihailo Bezmarević, Dragan Živojinović, Radoslav Romanović, Jelena Djekić, Predrag Krstić
{"title":"Case-Based Insights into Enteropathy-Associated T-Cell Lymphoma-Single-Center Experience.","authors":"Marija Elez, Lavinika Atanasković, Svetlana Mirosavljević, Mihailo Bezmarević, Dragan Živojinović, Radoslav Romanović, Jelena Djekić, Predrag Krstić","doi":"10.3390/hematolrep17050043","DOIUrl":"10.3390/hematolrep17050043","url":null,"abstract":"<p><p><b>Background:</b> Enteropathy-associated T-cell lymphoma (EATL) is a rare subtype of mature T-cell lymphoma, accounting for fewer than 5% of peripheral T-cell lymphomas, with an aggressive course and poor prognosis. There are two types of this disease based on morphology and immunophenotype: type I, which is often, but not always, associated with celiac disease (classic EATL), and type 2, monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL). Risk factors for classic EATL are poor adherence to a gluten-free diet, advanced age, male sex, and HLA-DQ2 homozygosity. The treatment options include surgery and various chemotherapy regimens with autologous stem cell transplantation, but the outcomes are discouraging, and clinical trials with targeted and biologic therapies are needed. <b>Case Presentation:</b> We report three cases of type 1 EATL, all with lethal outcomes, with one patient dying during initial treatment, one dying following several surgical interventions and without waiting to start chemotherapy, and one dying following a good treatment response but with severe infection.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112942","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
Reversible Platelet Aggregation Induced by Low-Temperature Storage in Heparinized Whole Blood Samples. 低温贮藏肝素化全血诱导的可逆血小板聚集。
IF 1.2
Hematology Reports Pub Date : 2025-08-22 DOI: 10.3390/hematolrep17050042
Yuriko Hayashi, Manato Miyazaki, Ryusuke Kimura, Ririka Arai, Miu Takada, Ayuko Takahashi, Hirokazu Kimura
{"title":"Reversible Platelet Aggregation Induced by Low-Temperature Storage in Heparinized Whole Blood Samples.","authors":"Yuriko Hayashi, Manato Miyazaki, Ryusuke Kimura, Ririka Arai, Miu Takada, Ayuko Takahashi, Hirokazu Kimura","doi":"10.3390/hematolrep17050042","DOIUrl":"10.3390/hematolrep17050042","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Platelet counts can be affected by storage conditions, potentially leading to pseudothrombocytopenia. The present study aimed to investigate temperature-dependent changes in platelet counts and morphology in whole blood samples anticoagulated with heparin or EDTA. We also examined the molecular mechanism of cold-induced aggregation via integrin GPIIb/IIIa-fibrinogen interaction using established bioinformatics technologies (docking simulation). <b>Methods</b>: Peripheral blood was collected from healthy volunteers (<i>n</i> = 6) and treated with either heparin or EDTA. The samples were stored at 4 °C, room temperature, or incubated at 37 °C. Platelet counts were measured using an automated hematology analyzer. The morphology of various blood cells in smears was assessed using the May-Grünwald Giemsa staining method. Docking simulations using an available software (HADDOCK 2.4) were performed to evaluate integrin-fibrinogen binding at different temperatures. <b>Results</b>: In automated blood cell counting, platelet counts in heparinized blood were significantly decreased under low-temperature conditions (4 °C), but this decrease was restored to levels comparable to those at room temperature upon warming to 37 °C (<i>p</i> < 0.05). No significant changes were observed in EDTA-treated samples. Microscopical findings showed platelet aggregation only in heparinized samples at 4 °C, with normal morphology restored upon warming (37 °C). Docking simulations estimated stronger integrin GPIIb/IIIa-fibrinogen binding at 4 °C than at 37 °C (<i>p</i> = 0.0286), suggesting temperature-dependent enhancement of molecular interactions. <b>Conclusions</b>: These findings indicate that heparin can induce reversible platelet aggregation at low temperatures in whole blood samples, leading to pseudothrombocytopenia. This phenomenon may be mediated by increased integrin GPIIb/IIIa-fibrinogen binding.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 5","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112922","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
Advantages of FVIII-Extended Half-Life (Turoctocog Alfa Pegol) in the Management of Cardiac Surgery in a Patient with Mild Hemophilia A: A Case Report and Literature Review. fviii -延长半衰期(Turoctocog Alfa Pegol)在轻度血友病a患者心脏手术治疗中的优势:1例报告和文献复习。
IF 1.2
Hematology Reports Pub Date : 2025-08-06 DOI: 10.3390/hematolrep17040041
Angela Napolitano, Andrea Venturini, Mauro Ronzoni, Graziella Saggiorato, Paolo Simioni, Ezio Zanon
{"title":"Advantages of FVIII-Extended Half-Life (Turoctocog Alfa Pegol) in the Management of Cardiac Surgery in a Patient with Mild Hemophilia A: A Case Report and Literature Review.","authors":"Angela Napolitano, Andrea Venturini, Mauro Ronzoni, Graziella Saggiorato, Paolo Simioni, Ezio Zanon","doi":"10.3390/hematolrep17040041","DOIUrl":"10.3390/hematolrep17040041","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Hemophilia A presents a considerable challenge in cardiac surgery due to the elevated risk of perioperative bleeding, particularly during procedures involving cardiopulmonary bypass. Standard management typically involves standard half-life (SHL) factor VIII (FVIII) concentrates, which require frequent dosing. Extended half-life (EHL) FVIII products offer theoretical advantages, including prolonged action and reduced infusion frequency, but their use in cardiac surgery remains largely undocumented. <b>Case Presentation:</b> We report the case of a 73-year-old male with mild Hemophilia A who underwent successful aortic valve replacement using a 25 mm Carpentier-Edwards Magna Ease biological prosthesis. The patient was managed perioperatively with an anti-hemorrhagic protocol based on EHL recombinant FVIII. The surgery and postoperative course were uneventful, with no bleeding complications or need for transfusion. <b>Conclusions:</b> This case illustrates the potential role of EHL FVIII in safely managing hemophilic patients undergoing major cardiac surgery. Given the lack of existing reports in the literature, further studies are warranted to evaluate the efficacy and safety of EHL FVIII in this setting and to potentially optimize perioperative care protocols for this patient population.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12386653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951675","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 Drop of Blood to Lead the Way. 一滴血引路。
IF 1.2
Hematology Reports Pub Date : 2025-08-05 DOI: 10.3390/hematolrep17040040
Theodora A M Claushuis, Marielle J Wondergem, Henriette B Beverloo, Marise R Heerma van Voss, Remco J Molenaar, Maud Zwolsman, Fleur M van der Valk, Hans L Mooij, Lianne Koens, Sanne H Tonino
{"title":"A Drop of Blood to Lead the Way.","authors":"Theodora A M Claushuis, Marielle J Wondergem, Henriette B Beverloo, Marise R Heerma van Voss, Remco J Molenaar, Maud Zwolsman, Fleur M van der Valk, Hans L Mooij, Lianne Koens, Sanne H Tonino","doi":"10.3390/hematolrep17040040","DOIUrl":"10.3390/hematolrep17040040","url":null,"abstract":"<p><p><b>Background and Significances:</b> In patients with Epstein-Barr virus-driven hemophagocytic lymphohistiocytosis (EBV-HLH), identifying the underlying cause poses a significant diagnostic challenge. HLH may precede overt disease, and early directed treatment for HLH can obscure histopathological findings. A liquid biopsy enables the detection of tumor-derived DNA from various sources, including cell-free DNA, circulating tumor cells, extracellular vesicles, and tumor-educated platelets, and might aid in this setting. <b>Case Presentation:</b> This case presents a young patient with EBV-HLH, in which genomic analysis of tumor-derived DNA from circulating tumor cells led to the diagnosis of an EBV-positive NK/T-cell lymphoma-where conventional tissue biopsies had failed. <b>Conclusions:</b> This report underscores the potential of the liquid biopsy as a valuable diagnostic tool in complex cases of EBV-HLH.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12386260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951621","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
TKI Use and Treatment-Free Remission in Chronic Myeloid Leukemia: Evidence from a Regional Cohort Study in the Canary Islands. 慢性髓系白血病TKI使用和无治疗缓解:来自加那利群岛区域队列研究的证据
IF 1.2
Hematology Reports Pub Date : 2025-08-04 DOI: 10.3390/hematolrep17040039
Santiago Sánchez-Sosa, Ruth Stuckey, Adrián Segura Díaz, José David González San Miguel, Ylenia Morales Ruiz, Sunil Lakhawani Lakhawani, Jose María Raya Sánchez, Melania Moreno Vega, María Tapia Torres, Pilar López-Coronado, María de Las Nieves Saez Perdomo, Marta Fernández, Cornelia Stoica, Cristina Bilbao Sieyro, María Teresa Gómez Casares
{"title":"TKI Use and Treatment-Free Remission in Chronic Myeloid Leukemia: Evidence from a Regional Cohort Study in the Canary Islands.","authors":"Santiago Sánchez-Sosa, Ruth Stuckey, Adrián Segura Díaz, José David González San Miguel, Ylenia Morales Ruiz, Sunil Lakhawani Lakhawani, Jose María Raya Sánchez, Melania Moreno Vega, María Tapia Torres, Pilar López-Coronado, María de Las Nieves Saez Perdomo, Marta Fernández, Cornelia Stoica, Cristina Bilbao Sieyro, María Teresa Gómez Casares","doi":"10.3390/hematolrep17040039","DOIUrl":"10.3390/hematolrep17040039","url":null,"abstract":"<p><p><b>Background/Objectives</b>: The advent of tyrosine kinase inhibitors (TKIs) revolutionized the management of chronic myeloid leukemia (CML), achieving survival rates near those of the general population. Despite this success, prolonged therapy presents challenges, including physical, emotional, and financial burdens. Treatment-free remission (TFR), defined as sustained deep molecular response (DMR) after discontinuing TKIs, has emerged as a viable clinical goal. This study evaluates real-world data from the Canary Islands Registry of CML (RCLMC) to explore outcomes, predictors, and the feasibility of TFR. <b>Methods</b>: This retrospective observational study included 393 patients diagnosed with CML-CP between 2007 and 2023. Molecular response was monitored according to international guidelines. Survival probabilities were estimated using the Kaplan-Meier method. Logistic regression analysis was performed to identify predictors of molecular relapses after TKI discontinuation. <b>Results</b>: Of the 383 patients who received TKI treatment, 58.3% achieved molecular response grade 2 (MR2) (BCR-ABL1 ≤ 1%), 95.05% achieved MR2, and 50.5% reached MR4 within the first year. Of the 107 patients attempting TFR, 73.2% maintained remission at 36 months. Relapses occurred in 24 patients, all regaining molecular response upon reintroduction of TKIs. No cases of disease progression were observed. <b>Conclusions</b>: Our findings support the feasibility and safety of TFR in a real-world clinical setting for well-selected patients, with outcomes consistent with international studies. The study underscores the importance of molecular monitoring and patient-specific strategies to optimize outcomes.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.2,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12386245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951704","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}
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