Case Reports in Hematology最新文献

{"title":"Pacritinib-Based Salvage Therapy in High-Risk Polycythaemia Vera With Recurrent Arterial and Venous Thrombosis After Hydroxyurea and Ruxolitinib: A Case Report.","authors":"Muna Al-Rasheed","doi":"10.1155/crh/8282682","DOIUrl":"10.1155/crh/8282682","url":null,"abstract":"<p><strong>Objectives: </strong>Polycythaemia vera (PV) is associated with substantial arterial and venous thrombotic risk, particularly in patients with prior thrombosis and inadequate haematocrit (HCT) control. Although ruxolitinib is an established second-line treatment after hydroxyurea failure or intolerance, some patients remain difficult to manage. We report a case of highly thrombotic, treatment-challenging PV in which pacritinib-based salvage therapy was used after inadequate disease control with hydroxyurea and ruxolitinib.</p><p><strong>Case presentation: </strong>A 44-year-old man was referred with portal vein thrombosis and a history of premature myocardial infarction and cerebrovascular accident. Investigations demonstrated JAK2V617F-positive PV with borderline low erythropoietin and bone marrow panmyelosis. Despite antiplatelet therapy, anticoagulation, hydroxyurea and subsequent ruxolitinib, the patient experienced further thrombotic complications, including recurrent cerebrovascular events, bilateral limb ischaemia and left ventricular thrombosis. Ruxolitinib was escalated to 25 mg twice daily and combined with low-dose hydroxyurea; however, HCT control remained suboptimal, with recurrent need for venesection. In February 2025, ruxolitinib was replaced with pacritinib 200 mg twice daily while hydroxyurea and warfarin were continued. During follow-up, the patient achieved improved HCT control, no longer required venesection and had no further documented thrombotic events. Pacritinib was well tolerated.</p><p><strong>Conclusion: </strong>This case describes a patient with high-risk, refractory PV and recurrent arterial and venous thrombosis in whom pacritinib-based salvage therapy was associated with improved HCT control, cessation of venesection and absence of further thrombosis during follow-up. Although off-label and hypothesis-generating, this experience supports further evaluation of pacritinib in selected patients with treatment-challenging PV.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8282682"},"PeriodicalIF":0.7,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217105","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":"Polycythemia Vera Transforming to Pure Erythroid Leukemia: A Diagnostic Mimic of Thrombotic Microangiopathy With High-Risk TP53 Biology.","authors":"Thalia Padilla Kelley, Lam Duc, Jean Sabile, Ronan Swords","doi":"10.1155/crh/8549290","DOIUrl":"10.1155/crh/8549290","url":null,"abstract":"<p><p>Leukemic transformation of polycythemia vera (PV) to acute myeloid leukemia (AML) with a predominantly erythroid blast population is rare and carries a poor prognosis, particularly when driven by a TP53 mutation. We report a 55-year-old man with JAK2 V617F-positive PV, previously noted on surveillance biopsy to harbor a TP53 mutation and Grade 2 marrow fibrosis, who presented three years later with pancytopenia, schistocytosis, hyperferritinemia, hypofibrinogenemia, and altered mental status. The initial clinical presentation raised concern for thrombotic thrombocytopenic purpura (TTP), while the presence of rare circulating blasts and coagulopathy also prompted consideration of acute promyelocytic leukemia (APML). Empiric plasma exchange, corticosteroids, and all-trans retinoic acid were initiated. ADAMTS13 activity and PML-RARA FISH subsequently returned negative. The patient deteriorated with multiorgan failure and expired before leukemia-directed therapy could be initiated. Postmortem bone marrow results demonstrated greater than 90% erythroid blasts with TP53 protein overexpression, a TP53 p.C238Y mutation (VAF 66%), and a triploid karyotype with 7p and 19p abnormalities, consistent with pure erythroid leukemia (PEL) arising from an antecedent myeloproliferative neoplasm. This case highlights the diagnostic challenges posed by overlapping clinical features of TTP and APML, including limitations in immunophenotypic assignment of the erythroid lineage. Importantly, it provides a longitudinally documented example of a TP53 mutation detected three years before overt transformation and describes a previously unreported presentation mimicking both TTP and APML.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8549290"},"PeriodicalIF":0.7,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217062","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":"Excellent Response to Eculizumab in a Patient With Complement-Mediated Thrombotic Microangiopathy and a Novel Plasminogen Gene Variant.","authors":"Aman Patel, Bowen Powers, Jason Tsai, Suresh Nukala","doi":"10.1155/crh/1318626","DOIUrl":"https://doi.org/10.1155/crh/1318626","url":null,"abstract":"<p><p>A middle-aged man presented with myalgia, fever, hematemesis, and melena. He was found to have acute kidney injury, acute coronary syndrome, thrombocytopenia, and Coombs-negative hemolytic anemia, raising concern for thrombotic microangiopathy (TMA). While awaiting confirmatory testing, empirical plasma exchange was initiated. Initially, minimal red blood cell fragmentation was observed, which later progressed to florid fragmentation. Despite supportive care, his clinical status deteriorated requiring hemodialysis. The presence of TMA, along with <i>ADAMTS13</i> metalloprotease activity above the diagnostic threshold, worsening kidney function, and negative stool Shiga toxin testing suggested complement-mediated TMA (C-TMA). Stool PCR testing revealed rotavirus. Eculizumab was initiated, resulting in rapid normalization of hematological parameters and eventual renal recovery. Genetic testing identified a heterozygous <i>PLG</i> c.1735G > A (p.Gly579Arg) variant classified as a variant of uncertain significance (VUS). The importance of serial review of peripheral blood smears and the diagnostic challenge of differentiating TTP, STEC-HUS, and C-TMA are the key learning points.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1318626"},"PeriodicalIF":0.7,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185229","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":"Atypical Extramedullary Acute Myeloid Leukemia in Infancy: Bilateral Testicular Swelling and Scalp Lesions at Diagnosis.","authors":"Ruba Alhazaimeh, Mais Jazazi, Ayman Alhwayan, Sulieman Jaafreh, Hazem Haddad, Adnan Bwaneh, Tasneem Malahmeh, Maher Khader","doi":"10.1155/crh/2024335","DOIUrl":"https://doi.org/10.1155/crh/2024335","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is rare in infancy, with monocytic subtypes such as acute myelomonocytic leukemia often demonstrating extramedullary involvement. This report describes a 10-month-old male infant presenting with firm bilateral testicular enlargement and multiple parietal scalp nodules, accompanied by leukocytosis and circulating blasts in peripheral blood. Bone marrow examination confirmed French-American-British (FAB) M4 AML. Scrotal ultrasound demonstrated heterogeneous masses, and computed tomography identified scalp chloromas without bone erosion. The patient received AML chemotherapy, resulting in resolution of extramedullary lesions and achievement of remission. This case underscores the importance of early hematologic evaluation in infants with bilateral testicular masses to prevent misdiagnosis. It illustrates the rare occurrence of concurrent testicular and scalp chloromas as the initial manifestation of infant AML.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"2024335"},"PeriodicalIF":0.7,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185264","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":"Pregnancy-Associated Acquired Hemophilia A (PA-AHA) Treated Successfully With the Factor-Mimetic Bispecific Antibody Emicizumab: A Case Report and Literature Review.","authors":"E Mandala, A Barmpouti, K Lafara, K Tsioni, T Achladas, K Kyrka, E Gavriilaki, C Lafaras, S Vakalopoulou","doi":"10.1155/crh/7527831","DOIUrl":"https://doi.org/10.1155/crh/7527831","url":null,"abstract":"<p><p>Acquired hemophilia A (AHA) is a rare bleeding disorder characterized by spontaneous bleeding in individuals with no previous personal or family history of bleeding, caused by the development of autoantibodies against coagulation Factor VIII (FVIII). These autoantibodies may be associated with drugs, autoimmune disorders, malignancies, and pregnancy. Pregnancy-associated AHA (PA-AHA) is a very rare condition, accounting for approximately 1%-5% of all AHA cases. Emicizumab, a bispecific FVIII-mimetic monoclonal antibody, was originally approved for Congenital Hemophilia A (with or without FVIII inhibitors) and has since gained widespread recognition and clinical utility in the management of AHA as well. We report a case of PA-AHA that was successfully managed with emicizumab. A 46-year-old woman was admitted with vaginal bleeding and extensive ecchymoses. The patient's obstetric history was notable for a twin gestation achieved through in vitro fertilization (IVF) using donor oocytes. The patient reported recurrent ecchymoses and menorrhagia beginning in the postpartum period. Laboratory examination revealed severe anemia with normal platelet counts and prothrombin time (PT), but a markedly prolonged activated partial thromboplastin time (aPTT) of 94.5 s. Immunological and virology testing, as well as cancer biomarkers, were negative. Initially, the patient received bypassing hemostatic therapy with recombinant activated Factor VII (rFVIIa), along with intensive immunosuppressive therapy (IST) consisting of corticosteroids, rituximab, and cyclophosphamide, in accordance with current international recommendations. However, no clinical response was observed. Treatment with emicizumab was subsequently initiated according to the proposed dosing schedule. Within 2 days, all bleeding manifestations resolved rapidly. Notably, FVIII activity, measured using a chromogenic assay, remained markedly reduced. After 566 days of follow-up, FVIII activity spontaneously normalized, allowing discontinuation of emicizumab. No further bleeding episodes were observed. Although emicizumab is increasingly incorporated into the management of AHA, clinical experience in PA-AHA remains limited. The present case adds to the existing literature by supporting the safety and efficacy of emicizumab in PA-AHA, highlighting its role as an effective hemostatic bridge to remission in complex clinical settings.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7527831"},"PeriodicalIF":0.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13650384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170649","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":"CD5-Positive Mature B-Cell Neoplasm With Large-Cell Morphology, Predominant Bone Marrow Involvement, and a Leukemic Peripheral Blood Presentation: A Case Report.","authors":"Masamitsu Takaba, Akari Yoda, Shinya Fujisawa","doi":"10.1155/crh/1476825","DOIUrl":"https://doi.org/10.1155/crh/1476825","url":null,"abstract":"<p><p>A 65-year-old man presenting with pancytopenia and circulating large atypical cells was initially suspected of having acute leukemia. Flow cytometric analysis demonstrated a mature clonal B-cell phenotype, and the integrated findings supported a diagnosis of a CD5-positive mature B-cell neoplasm with large-cell morphology, predominant bone marrow involvement, and a leukemic peripheral blood presentation. Based on the available staging data, primary bone marrow DLBCL was suspected but could not be definitively confirmed. The neoplasm was characterized by CD5 expression, a <i>BCL6</i> rearrangement, and a complex karyotype including monosomy 17. The patient received six cycles of R-CHOP followed by two cycles of systemic high-dose methotrexate as individualized central nervous system prophylaxis. A complete response was confirmed after treatment, with no evidence of recurrence 6 months after treatment completion.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1476825"},"PeriodicalIF":0.7,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13636136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116437","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":"Functional Antithrombin (AT) Deficiency Presenting as Multiterritorial Splanchnic Vein Thrombosis: A Case Report.","authors":"Martha L Cuervo, Angela M Castañeda, Jaime A Pineda, Valentina Montiel, Jheremy E Reyes","doi":"10.1155/crh/9938304","DOIUrl":"https://doi.org/10.1155/crh/9938304","url":null,"abstract":"<p><p>Functional antithrombin (AT) deficiency is an inherited thrombophilic disorder that can present as venous thrombosis at atypical sites. We report the case of a 47-year-old man with a family history of venous thromboembolism who presented with thrombosis involving the splenoportal confluence and the superior mesenteric vein. Initial laboratory evaluation revealed normal AT activity levels and a negative standard thrombophilia panel. Due to the unusual thrombotic location and family history, extended genetic testing was performed, which identified a pathogenic heterozygous variant in <i>SERPINC1</i> NM_000488.3:c.749C > A (p.Thr250Asn), consistent with functional AT deficiency. After the resolution of gastrointestinal bleeding complications, long-term anticoagulation therapy was reintroduced. This case underscores the importance of considering hereditary thrombophilia in patients with thrombosis at unusual sites even when standard laboratory studies are unremarkable.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"9938304"},"PeriodicalIF":0.7,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13636659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116453","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":"Rivaroxaban as Secondary Thromboprophylaxis in Pediatric Patients With Short Bowel Syndrome.","authors":"Angela F Journell, Chelsea E Peters, Jessica Meznarich, Sasidhar Goteti","doi":"10.1155/crh/7383741","DOIUrl":"10.1155/crh/7383741","url":null,"abstract":"<p><p>Pediatric patients with short bowel syndrome often require long-term parenteral nutrition via a central venous catheter (CVC), which places them at risk for venous thromboembolism (VTE). Our objective was to retrospectively review a single-center use of rivaroxaban in patients with short bowel syndrome (<i>n</i> = 3) to determine if rivaroxaban is viable secondary thromboprophylaxis. One out of three patients developed a new VTE while their prophylactic rivaroxaban was held, one patient developed a gastrointestinal bleed, and one patient completed therapy without an event. Rivaroxaban may be feasible in selected patients with short bowel syndrome with close therapeutic drug level monitoring, but larger studies are needed.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7383741"},"PeriodicalIF":0.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13621405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082154","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":"Primary Diffuse Large B-Cell Lymphoma of the Female Genital Tract: A Rare Case Presentation With Literature Review.","authors":"Feifei Xu, Jie Lin Jaslyn Lee, Baozhu Yi, Wanwan Chen","doi":"10.1155/crh/7682047","DOIUrl":"https://doi.org/10.1155/crh/7682047","url":null,"abstract":"<p><p>Primary lymphoma of the female genital tract is a rare entity with nonspecific clinical manifestations, rendering accurate diagnosis challenging. We describe an unusual case of primary diffuse large B-cell lymphoma (DLBCL) of the female genital tract. The patient presented with abdominal distention and difficulty breathing. A total hysterectomy, bilateral salpingo-oophorectomy, and omentectomy were subsequently performed, and the final histology was a DLBCL of germinal center subtype (GCB), with mutations in <i>TP53</i> and <i>MYC</i> genes. The patient received attenuated dose chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP), 3 cycles every 3 weeks. She died 3 months after surgery. This case highlights the aggressive disease biology of GCB-type DLBCL with <i>TP53</i> and <i>MYC</i> gene mutations.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7682047"},"PeriodicalIF":0.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13624386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116444","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":"Tracheostomy Before Polatuzumab Vedotin-Containing Therapy for Airway-Threatening Cervical Diffuse Large B-Cell Lymphoma: A Case Report of Two Patients.","authors":"Yoshikazu Ikoma, Nobuhiro Kanemura, Rinto Otsuka, Daisuke Okamoto, Naoki Hayase, Takuro Matsumoto, Nobuhiko Nakamura, Hiroshi Nakamura, Takenori Ogawa, Masahito Shimizu","doi":"10.1155/crh/4447338","DOIUrl":"10.1155/crh/4447338","url":null,"abstract":"<p><strong>Background: </strong>Bulky cervical diffuse large B-cell lymphoma (DLBCL) with impending airway compromise presents an urgent management dilemma, particularly when diagnostic confirmation and timely initiation of definitive therapy must be balanced against the risk of abrupt airway deterioration. Evidence guiding airway-first management before polatuzumab vedotin-containing frontline therapy remains limited.</p><p><strong>Case presentation: </strong>We describe two older men with bulky cervical DLBCL who presented with progressive airway-related symptoms and marked upper airway narrowing on endoscopic and radiologic evaluations. In both cases, semiurgent tracheostomy was prioritized over emergent radiotherapy or immediate systemic therapy, allowing pathological confirmation and treatment planning under controlled conditions. After DLBCL was pathologically confirmed, full-dose polatuzumab vedotin, rituximab, cyclophosphamide, doxorubicin, and prednisone (Pola-R-CHP) were initiated 15 and 10 days after tracheostomy, respectively, and delivered without dose reduction or treatment delay. No perioperative or tracheostomy-site complications occurred. Both patients completed six cycles of Pola-R-CHP followed by two cycles of rituximab. One patient achieved a partial metabolic response; after receiving salvage chemoimmunotherapy followed by CD19-directed chimeric antigen receptor T-cell therapy, he achieved a complete metabolic response. In the other patient, residual fluorodeoxyglucose uptake without corresponding structural lesions was managed with close surveillance after negative follow-up evaluations, including laryngoscopy and thyroid fine-needle aspiration.</p><p><strong>Conclusions: </strong>Although limited to two patients, these cases suggest that proactive airway stabilization can create a controlled window for diagnosis and treatment planning and may facilitate safe delivery of full-dose Pola-R-CHP in selected patients with airway-threatening cervical DLBCL.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"4447338"},"PeriodicalIF":0.7,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13620398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082158","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}