Case Reports in Hematology最新文献

{"title":"Spontaneous Remission of Acute Myeloid Leukemia With Mutated <i>NPM1</i> Following SARS-CoV-2 Infection.","authors":"Isabella Holmes, David Nai, Tamara Pikivaca, Praveena R Solipuram, Anamarija M Perry","doi":"10.1155/crh/3373759","DOIUrl":"10.1155/crh/3373759","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) with <i>NPM1</i> mutation is the most common of the genetically defined AMLs in adults. Spontaneous remission (SR) of AML is very rare but well documented in the literature with < 40 reported cases in the last 25 years<b>.</b> SR of AML is usually short in duration, and most patients relapse in < 6 months<b>.</b> Causes of SR of AML are unclear, but most cases occurred in association with infection, including a few recently reported cases associated with SARS-CoV-2 infection. We report a unique case of a 77-year-old female with a 4-year history of cytopenias prior to diagnosis of AML with mutated <i>NPM1</i>, concurrent with an infection by SARS-CoV-2. She subsequently experienced a SR of AML with loss of the <i>NPM1</i> mutation. After entering SR, the patient was initiated on treatment with subcutaneous azacitidine and venetoclax and has remained in remission for 44 months. Clinicians should be aware of this rare phenomenon and closely follow up these patients, as the SR of AML is usually of short duration.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"3373759"},"PeriodicalIF":0.7,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13400706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593933","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":"Impressive Skin and Systemic Response Despite Patient Underestimation and Delayed Diagnosis of Blastic Plasmacytoid Dendritic Cell Neoplasm.","authors":"Emanuele Pacini, Beatrice Esposito Vangone, Adele Santoni, Margherita Malchiodi, Corrado Zuanelli Brambilla, Anna Sicuranza, Giulia Beffa, Monica Bocchia","doi":"10.1155/crh/4591883","DOIUrl":"10.1155/crh/4591883","url":null,"abstract":"<p><p>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy derived from precursors of plasmacytoid dendritic cells (pDCs), most frequently presenting with cutaneous involvement and often progressing to bone marrow (BM), lymph node, and central nervous system (CNS) infiltration. Owing to its heterogeneous and often indolent initial presentation, diagnosis is frequently delayed, potentially worsening prognosis. We report the case of a 55-year-old man with long-standing underrecognized cutaneous and nodal lesions that eventually evolved into disseminated BPDCN. The patient was successfully treated with intensive chemotherapy (CHT) using a hyper-CVAD regimen combined with intrathecal therapy (IT), achieving complete remission (CR). Consolidation with allogeneic hematopoietic stem cell transplantation (allo-HSCT) from a matched sibling donor resulted in sustained minimal residual disease (MRD)-negative CR. At 23 months post transplant, the patient remains disease-free with full donor chimerism and no evidence of graft-versus-host disease (GvHD). This case highlights the diagnostic challenges of BPDCN, the importance of early recognition of atypical cutaneous lesions, and supports the role of intensive CHT followed by allo-HSCT as an effective therapeutic strategy in eligible patients.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"4591883"},"PeriodicalIF":0.7,"publicationDate":"2026-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13379766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148498274","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":"An Unusual Presentation of Philadelphia Chromosome Positive B-Cell Acute Lymphoblastic Leukemia With Isolated Osteolytic Lesions at Diagnosis: A Case Report.","authors":"Tiantian Zhang, Omer Jamy, Sravanti Rangaraju","doi":"10.1155/crh/2728902","DOIUrl":"10.1155/crh/2728902","url":null,"abstract":"<p><strong>Background: </strong>Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia (Ph + B-ALL) is a high-risk subtype of ALL characterized by the presence of the BCR-ABL1 fusion gene and typically presents with diffuse bone marrow involvement, circulating blasts, and systemic symptoms. While extramedullary disease may occur, it is rarely the dominant or sole feature at diagnosis. Isolated skeletal involvement with a normal bone marrow evaluation is exceedingly rare and diagnostically challenging.</p><p><strong>Case presentation: </strong>We report the case of a 56-year-old Caucasian female who presented with progressive left hip pain and extensive lytic skeletal lesions, initially raising concern for multiple myeloma or metastatic cancer. Imaging revealed multifocal FDG-avid lesions in the skeleton without evidence of a systemic disease. Bone biopsy confirmed precursor B-lymphoblastic leukemia with expression of CD45, CD34, CD79a, TdT, and CD99, and eventually detection of BCR::ABL1 p190 transcript, consistent with Ph + B-ALL. Surprisingly, bone marrow aspirate and biopsy showed normocellular trilineage hematopoiesis without morphologic or immunophenotypic evidence of leukemia. The patient was treated with hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone alternating with high dose methotrexate and cytarabine (HyperCVAD/MA) plus dasatinib followed by allogeneic stem cell transplantation, achieving complete molecular and metabolic remission.</p><p><strong>Conclusion: </strong>This case highlights an atypical presentation of Ph + B-ALL with isolated extramedullary skeletal involvement and a normal bone marrow at diagnosis. Such presentations, although rare, underscore the importance of maintaining a broad differential diagnosis in patients with unexplained lytic bone lesions and unremarkable hematologic findings. Early biopsy and appropriate molecular testing of affected tissue are essential for timely diagnosis and initiation of appropriate targeted therapy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"2728902"},"PeriodicalIF":0.7,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13379309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148498207","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":"Successful Topical Treatment of Hydroxyurea-Induced Ulcers Without Drug Discontinuation: A Case Report.","authors":"Yiming Wang, MinMin He, BoCheng Han, Qiwen Zhang, Rui Ma","doi":"10.1155/crh/5054123","DOIUrl":"10.1155/crh/5054123","url":null,"abstract":"<p><p>Hydroxyurea, an antineoplastic agent, is widely used to treat essential thrombocythemia and polycythemia vera. Although hydroxyurea-induced skin ulcers are uncommon, they are a recognized long-term adverse effect. Current management generally recommends discontinuation of hydroxyurea as the mainstay of treatment; however, drug withdrawal may aggravate the underlying hematologic disease. We report a case of bilateral medial malleolar ulcers associated with hydroxyurea therapy in a 65-year-old man with essential thrombocythemia, who showed marked improvement after two months of topical treatment with recombinant bovine basic fibroblast growth factor (rb-bFGF) gel, without discontinuation of hydroxyurea. Complete healing was confirmed at 25-month follow-up, while hematologic disease control was maintained. This case suggests that localized wound care with topical rb-bFGF may represent a feasible therapeutic option in selected patients when hydroxyurea discontinuation is not feasible.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"5054123"},"PeriodicalIF":0.7,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13371088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148457279","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":"The Perilous Journey of Patients With Primary CNS-HLH to Bone Marrow Transplant: A Case Report.","authors":"Camille Henyan, Braden Lane Garcia, Sarah Madison, Megan Gibbs, Maranda Diaz, Anish Ray","doi":"10.1155/crh/1557951","DOIUrl":"10.1155/crh/1557951","url":null,"abstract":"<p><p>Hemophagocytic lymphohistiocytosis (HLH) is a rare but life-threatening syndrome of immune dysregulation with an incidence of 1.2-1.5 cases per million children annually. Curative therapy for primary HLH requires hematopoietic stem cell transplantation (HSCT). A subset of patients develop central nervous system (CNS) involvement, which is associated with high morbidity and mortality yet remains poorly characterized. We describe two patients with genetically confirmed primary HLH (PRF1 mutations with impaired perforin activity) who developed CNS disease. Both presented to the emergency department with fever. Common features included pancytopenia, hepatosplenomegaly, cerebrospinal fluid pleocytosis, and absence of malignancy on bone marrow biopsy. Patient 1: Presented with fever, irritability, abnormal gait, abnormal eye movements, and significant abnormal MRI findings. Patient 2: Following RSV and streptococcal pharyngitis, developed fever, poor oral intake, and lethargy. Both patients received HLH-directed therapy (dexamethasone, etoposide, and emapalumab) plus intensive supportive care. Due to elevated neopterin and CNS disease, both underwent intrathecal chemotherapy to specifically target neuroinflammation. Outcomes diverged: Patient 1 developed refractory status epilepticus and died without transplantation, while Patient 2 successfully underwent HSCT and was discharged home. This case report highlights the heterogeneity of CNS involvement in primary HLH and its impact on outcomes. Elevated neopterin and neurologic manifestations may serve as critical early indicators of CNS disease. Despite advances in management strategies, timely recognition, aggressive treatment, and access to HSCT remain essential to survival. Broader clinical experience and collaborative studies are needed to optimize care strategies for CNS-HLH.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1557951"},"PeriodicalIF":0.7,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13366099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148449872","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":"Extramedullary Hematopoiesis in the Cerebral Dura Resulting in Fatal Brain Herniation in a Patient With Secondary Myelofibrosis: A Case Report.","authors":"Takayuki Fujio, Yuichi Hasegawa, Yasumitsu Kurokawa, Akinori Sugaya, Shingo Ishiguro, Shoichi Mitsuhashi, Hiroshi Kojima, Hitoaki Saitoh, Mitsuo Hori","doi":"10.1155/crh/5796734","DOIUrl":"10.1155/crh/5796734","url":null,"abstract":"<p><p>Extramedullary hematopoiesis (EMH) is a compensatory process that supplements defective hematopoiesis and is frequently observed in myeloproliferative neoplasms (MPNs). Liver, spleen, and lymph nodes are the most common sites of EMH, whereas its occurrence in the intracranial space is extremely rare. We experienced a case of EMH which developed in cranial dura mater after irradiation against massive splenomegaly. As general condition of the patient did not allow us pathological examination, the diagnosis was confirmed by postmortem autopsy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"5796734"},"PeriodicalIF":0.7,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13366404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148449866","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":"Blastic Plasmacytoid Dendritic Cell Neoplasm in an Adolescent Managed in a Resource-Limited Setting: A Case Report.","authors":"Garrick Laudin, Jenifer Vaughan, Sugeshnee Pather, Claudia Summers, Avishkar Maney, Atul Lakha, Muhammed Faadil Waja, Lindokuhle Goqwana, Katherine Hodkinson","doi":"10.1155/crh/1251228","DOIUrl":"10.1155/crh/1251228","url":null,"abstract":"<p><p>Blastic plasmacytoid dendritic cell neoplasms (BPDCNs) are rare, aggressive haematologic malignancies, uncommon in adolescents and often difficult to diagnose. We report a 16-year-old male presenting with lymphadenopathy, pancytopenia and constitutional symptoms. Bone marrow aspirate noted 84% blasts with corresponding flow cytometry and lymph node biopsy supporting the diagnosis. Peripheral blood next-generation sequencing (NGS) revealed an <i>NRAS</i> p.(G12R) missense, gain-of-function mutation with a variant allele frequency (VAF) of 25%. The patient was treated with a combination of AML and ALL-type chemotherapy and succumbed to neutropenic sepsis 259 days after his diagnosis. This case highlights the challenges in diagnosis and treatment of BPDCN in a resource-limited setting.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1251228"},"PeriodicalIF":0.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13351325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148425496","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":"Long-Term Treatment With Emapalumab in an Adult Patient With Refractory Hemophagocytic Lymphohistiocytosis and Systemic Lupus Erythematosus: A Case Report.","authors":"Hind Salama, Ghada Alshehri, Ayel Yahya, Areej Almugairi","doi":"10.1155/crh/7722625","DOIUrl":"10.1155/crh/7722625","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by excessive immune activation due to persistently activated cytotoxic lymphocytes and macrophages. HLH can lead to multiorgan dysfunction and can be fatal if left untreated. HLH secondary to autoimmune diseases is referred to as macrophage activation syndrome (MAS).</p><p><strong>Case presentation: </strong>A female Arab Saudi patient in her late 20s with a history of systemic lupus erythematosus (SLE) presented with reduced oral intake, abdominal pain, decreased urine output, tachypnea, shortness of breath, and acute heart failure. MAS secondary to SLE and associated stress cardiomyopathy was suspected. Despite initial treatment with the HLH-94 protocol, the patient showed no improvement and developed Gram-negative septicemia with worsened cytopenia. Emapalumab, a monoclonal antibody that targets interferon gamma (IFN-γ), was introduced as a salvage therapy, resulting in rapid clinical and biochemical improvement, including normalization of cardiac function. The patient received emapalumab for around 17 months, with good tolerability apart from a brief period of CMV reactivation, achieving sustained remission. Following discontinuation, HLH recurred in the context of newly diagnosed myelodysplastic syndrome and was refractory to conventional therapy but responded again to emapalumab retreatment. At the time of last follow-up, the patient remained clinically stable with no evidence of active HLH while continuing emapalumab therapy in the context of ongoing treatment for her underlying conditions.</p><p><strong>Conclusions: </strong>This case report highlights the potential of emapalumab as an effective therapeutic option for the treatment of relapsed/refractory HLH in adults, including in SLE- and malignancy-associated disease not responding to conventional therapy. It supports its role in achieving rapid disease control, enabling prolonged remission with extended use, and allowing successful retreatment in recurrent HLH, including in high-risk settings with poor outcomes such as malignancy-associated HLH.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7722625"},"PeriodicalIF":0.7,"publicationDate":"2026-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13347312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148425493","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":"Management Challenges and Outcomes of Bronchiolitis Obliterans Syndrome After Hematopoietic Stem Cell Transplantation: First Case Series Report From Vietnam.","authors":"Luong Dinh-Van, Hoang-Anh Nguyen-Cong, Nguyen Tran-Ngoc, Bich-Ngoc T Nguyen","doi":"10.1155/crh/8055215","DOIUrl":"10.1155/crh/8055215","url":null,"abstract":"<p><p>Bronchiolitis obliterans syndrome (BOS) is a serious pulmonary manifestation of chronic graft-versus-host disease (cGvHD) after allogeneic hematopoietic stem cell transplantation (HSCT). Data from low- and middle-income countries remain scarce. We conducted a case series of 11 patients diagnosed with BOS between November 2023 and June 2025 at the National Lung Hospital, Hanoi, Vietnam. Clinical characteristics, treatments, pulmonary function, and outcomes over 12 months were analyzed. The series was predominantly male (81.8%), with a median age of 34 years (range, 12-57). The median time from HSCT to BOS diagnosis was 24 months (range, 11-72). All patients received fluticasone, azithromycin, montelukast (FAM) plus long-acting bronchodilators, and 4 patients also received systemic corticosteroids. Median baseline forced expiratory volume in one second (FEV₁) was 1.35 L (range, 0.53-2.48), corresponding to 40% predicted (range, 18-68). Over 12 months, 9/11 patients (81.8%) were hospitalized for respiratory infections, with invasive aspergillosis in 7/14 episodes (50%). Four patients (36.4%) died, three from infections, and one from autoimmune cerebritis. Median survival among deceased patients was 6.5 months. Among survivors, lung function was generally stable, with no significant change in FEV₁ across baseline, 3, 6, and 12 months (Friedman test, <i>p</i> value = 0.37). BOS after HSCT in Vietnam was associated with high early mortality and a high incidence of invasive fungal disease. Systemic corticosteroid use appeared to increase infection-related deaths, while steroid-sparing regimens such as FAM combined with bronchodilators stabilized lung function in most survivors. Early detection, antifungal prophylaxis, and steroid-sparing strategies are crucial in this high-risk population.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8055215"},"PeriodicalIF":0.7,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13342836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148413413","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":"Successful Haploidentical Hematopoietic Stem Cell Transplantation for Chemotherapy-Induced Aplastic Anemia in a Breast Cancer Survivor: A Case Report and Literature Review.","authors":"Xin-Yi Qin, Yan-Fang Zhang, Ying Zhang, Yun Luo","doi":"10.1155/crh/1212359","DOIUrl":"10.1155/crh/1212359","url":null,"abstract":"<p><p>Chemotherapy-induced aplastic anemia (AA) is a rare but potentially life-threatening complication in solid tumor treatment. While allogeneic hematopoietic stem cell transplantation (HSCT) is a recognized treatment for AA, haploidentical HSCT (haplo-HSCT) for chemotherapy-induced AA in solid tumor patient survivors remains largely unexplored. We report a unique case of successful haplo-HSCT in a breast cancer survivor who developed AA following chemotherapy. In addition, we conducted a comprehensive literature review on chemotherapy-induced AA in breast cancer patients and its management, with a focus on HSCT outcomes. This case demonstrates the potential efficacy of haplo-HSCT in treating chemotherapy-induced AA in breast cancer survivors. It highlights an important therapeutic option for this rare but severe complication, particularly when matched donors are unavailable. Our experience contributes valuable insights to the limited literature on managing this challenging clinical scenario.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1212359"},"PeriodicalIF":0.7,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13346353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148425399","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}