Case Reports in Hematology最新文献

{"title":"Hereditary Predisposition to Acute Myeloid Leukemia: A Novel Germline CEBPA Mutation in a Multigenerational Family.","authors":"Nancy Aislinn Tónix-Ramírez, Eneida Sánchez-Medina, Luis Enrique Muñóz-Pérez, Raquel Hernández-Ramos, Claudia Guevara-Espejel, Elizabeth Bautista-Rodríguez, Federico Osorio-Antonio","doi":"10.1155/crh/8189036","DOIUrl":"10.1155/crh/8189036","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy driven by the accumulation of genetic alterations in hematopoietic progenitor cells. CEBPA variants have been linked to familial AML, although multigenerational cases have been infrequently reported. We describe the case of a 6-year-old boy referred for hematologic abnormalities, with a history of idiopathic thrombocytopenic purpura at age 3. His family history revealed 11 cases of AML in four maternal generations, suggesting autosomal dominant inheritance. Diagnostic evaluation revealed AML with 40% bone marrow blasts, a normal karyotype, and a negative multiplex RT-PCR panel for 28 common chromosomal translocations. Next-generation sequencing (NGS) identified a novel heterozygous pathogenic variant in the CEBPA gene (c.273_309delinsGGCCAGGGTCT; p.Lys92Alafs∗7), which was predicted to generate a truncated protein. Given the patient's medical history, genetic screening was performed on the patient's first-degree relatives. Genetic testing subsequently identified the same variant in the patient's mother, supporting its germline origin, while his sister showed no alterations in the CEBPA gene sequence. The presence of the variant in the patient´s mother, who is asymptomatic, is consistent with autosomal dominant transmission and age-dependent or incomplete penetrance. In this case, the patient carried a heterozygous variant, achieved complete remission after chemotherapy, and remains under surveillance. We present a pathogenic germline deletion-insertion variant in the CEBPA gene, not previously described in the literature, associated with hereditary predisposition to AML in a four-generation family, highlighting the variable expressivity characteristic of this syndrome and the relevance of considering a hereditary predisposition disorder in pediatric patients with AML.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"8189036"},"PeriodicalIF":0.7,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13617314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149076284","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":"Severe Hereditary Pyropoikilocytosis/Hereditary Elliptocytosis-Like Phenotype Associated With a Heterozygous <i>SPTA1</i> Variant in a Cambodian Girl: A Case Report.","authors":"Kim Leanghay, Chin Soey, Meang Sovandos, Srey Viso, Chean Sophâl","doi":"10.1155/crh/9545062","DOIUrl":"10.1155/crh/9545062","url":null,"abstract":"<p><strong>Background: </strong>Hereditary elliptocytosis (HE) is typically a mild or asymptomatic red blood cell membrane disorder characterized predominantly by elliptocytes, whereas hereditary pyropoikilocytosis (HPP) represents the severe end of the HE spectrum, with early-onset hemolysis, marked poikilocytosis, red cell fragmentation, and pronounced membrane instability. We report a Cambodian girl with a severe HPP/HE-like phenotype associated with a heterozygous <i>SPTA1</i> variant of uncertain significance, emphasizing the importance of integrating clinical, hematologic, morphologic, and molecular findings to support accurate diagnostic classification.</p><p><strong>Case presentation: </strong>A 7-year-old Cambodian girl born to nonconsanguineous parents was referred for evaluation of chronic transfusion-dependent hemolytic anemia that began in the neonatal period. She developed severe jaundice at 1 week of age, requiring intensive phototherapy, and required regular packed red blood cell transfusions from 2 weeks of age. Corticosteroid therapy was initiated when immune-mediated hemolysis was suspected, modestly prolonging the transfusion interval before being discontinued because of Cushingoid features. Physical examination revealed pallor, scleral icterus, and mild splenomegaly. Laboratory evaluation showed severe anemia, markedly elevated red cell distribution width, an inappropriately low reticulocyte count for the degree of anemia, a negative direct antiglobulin test, normal G6PD activity, and red cell morphological abnormalities, including poikilocytes, elliptocytes, and red cell fragments. Phenotype-guided clinical whole-exome sequencing identified a heterozygous <i>SPTA1</i> c.179G > C (p.Arg60Pro) variant of uncertain significance. The clinical presentation and red cell morphology supported classification as a severe HPP/HE-like red cell membrane phenotype, with the heterozygous <i>SPTA1</i> variant considered an associated molecular finding rather than evidence of causality.</p><p><strong>Conclusion: </strong>This case illustrates the diagnostic complexity of severe HPP/HE-spectrum disease associated with a heterozygous <i>SPTA1</i> variant. In children with early-onset transfusion-dependent hemolytic anemia and compatible red cell morphology, integrated clinical, hematologic, and molecular assessment, supported by family studies, membrane testing, and broader genomic analysis, may improve diagnostic classification when available.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"9545062"},"PeriodicalIF":0.7,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064996","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":"A Case of Duffy-Null-Associated Neutropenia in a Patient With Chronic Myeloid Leukemia.","authors":"Anushka Parekh, Joanna Metzner-Sadurski","doi":"10.1155/crh/9335086","DOIUrl":"10.1155/crh/9335086","url":null,"abstract":"<p><p>Duffy-null-associated neutrophil count (DANC) refers to a below-normal absolute neutrophil count (ANC < 1.5 × 10³/L), present most commonly in African American individuals. Neutropenia is a result of a lack of Fya and Fyb antigens on red blood cells. These patients do not have an increased risk of infection and may have an ANC < 1.5 × 10³/L at baseline. This unique case presents Duffy-null-associated neutropenia in the setting of chronic myeloid leukemia (CML). A 64-year-old African American female presented to the emergency department on May 17, 2021, for fatigue and was found to have a white blood cell (WBC) count of 65.3 × 10⁹/L. Hematology and oncology referral led to a diagnosis of CML. Subsequently, she began treatment with imatinib (Gleevec) 400 mg daily. One month into treatment, she was neutropenic, with an ANC of 0.6 × 10³/L. For the next several years, this patient repeatedly had treatment holds and dose reductions in response to recurrent neutropenia. When BCR-ABL1 transcript level continued to increase, indicating poor treatment response, she was referred to Medical University of South Carolina (MUSC). After several treatment changes due to adverse effects, she began treatment with asciminib 80 mg daily. BCR-ABL1 transcript level with asciminib was consistently below 0.1%, indicating successful treatment response. Despite this milestone, she continued to have episodes of neutropenia, prompting a check for Duffy antigen presence. Testing confirmed the lack of Fya and Fyb antigens, indicating Duffy-null status. This case demonstrates the importance of identifying Duffy-null individuals. Despite achieving major molecular response, the patient had persistent neutropenia, leading to the investigation of Duffy-null status. It is hypothesized that underlying Duffy-null status may have caused neutropenia, rather than an adverse reaction to treatment. Early detection of Duffy-null status can prevent dose reductions in therapy and delayed remission. Particularly with African American patients, a better framework for addressing Duffy-null neutropenia may benefit long-term outcomes in the setting of cancer therapy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"9335086"},"PeriodicalIF":0.7,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149065039","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":"Synchronous Triple Malignancy Presentation of Multiple Myeloma and Prefibrotic Primary Myelofibrosis in a Patient With Mucinous Breast Carcinoma: A Case Report From Rural South Africa.","authors":"Michael A Linström, Dean C Mitchell, Riyaadh Roberts, Robert K Lohlun","doi":"10.1155/crh/7459223","DOIUrl":"10.1155/crh/7459223","url":null,"abstract":"<p><strong>Background: </strong>Multiple primary malignant neoplasms (MPMNs) diagnosed synchronously are rare, with an incidence of less than 1%. The occurrence of triple synchronous malignancies is exceedingly uncommon, and to our knowledge, no prior reports describe the concurrent presentation of a myeloproliferative neoplasm, plasma cell dyscrasia and breast cancer. Such cases pose considerable diagnostic and therapeutic challenges, particularly in settings with limited access to advanced molecular testing and oncologic therapies.</p><p><strong>Case presentation: </strong>A 67-year-old woman presented with a pathological femoral fracture, marked leucocytosis and thrombocytosis. Histological examination of the fracture site revealed a kappa-restricted plasmacytoma meeting diagnostic criteria for multiple myeloma (R-ISS Stage 3). Bone marrow biopsy demonstrated hypercellularity with atypical clustered megakaryocytes, consistent with prefibrotic primary myelofibrosis, and molecular analysis confirmed a <i>JAK2 V617F</i> mutation. During evaluation, a right breast mass was confirmed on core biopsy as an invasive carcinoma with focal mucinous differentiation (ER/PR-positive, HER2-negative and Ki-67 25%), consistent with a luminal B-like profile. The patient commenced therapy with melphalan and prednisone for myeloma and anastrozole for breast carcinoma, with multidisciplinary input guiding treatment sequencing.</p><p><strong>Discussion: </strong>This case represents an exceptionally rare triad of synchronous malignancies spanning myeloid, plasma-cell and epithelial lineages. While myeloproliferative neoplasms are associated with an elevated risk of secondary neoplasia, the simultaneous occurrence of three independent malignancies raises the possibility of shared pathogenic mechanisms such as clonal haematopoiesis or an underlying germline predisposition. The presentation highlights the diagnostic complexity of distinguishing independent primaries from metastatic disease and illustrates the importance of maintaining diagnostic vigilance. Limited access to next-generation sequencing and novel therapies further complicates management in resource-constrained healthcare environments.</p><p><strong>Conclusion: </strong>Triple synchronous primary malignancies are exceedingly rare and diagnostically challenging. This case emphasises the necessity of a systematic, multidisciplinary approach to evaluation and management, even in low-resource settings, to ensure accurate diagnosis and optimal coordination of care across multiple oncologic pathologies.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7459223"},"PeriodicalIF":0.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13602348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149041064","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 Ambiguity in BCR-ABL1-Positive MPAL in a Resource-Limited Setting: A Case Report.","authors":"Sadichhya Poudel, Subidha Sharma, Shankar Kafle, Shovana Karki, Anjan Shrestha","doi":"10.1155/crh/2170200","DOIUrl":"10.1155/crh/2170200","url":null,"abstract":"<p><p>Mixed phenotype acute leukemia (MPAL) is a rare hematologic malignancy characterized by the presence of both myeloid and lymphoid lineage markers, posing significant diagnostic and therapeutic challenges. The presence of BCR-ABL1 further complicates classification and management, as it carries important prognostic and therapeutic implications. We report a case of BCR-ABL1-positive MPAL diagnosed through integrated morphological, immunophenotypic, and cytogenetic evaluation. The case highlights key diagnostic pitfalls and underscores the importance of comprehensive immunophenotyping and molecular testing to avoid misclassification as acute myeloid leukemia or acute lymphoblastic leukemia. Recognition of this entity is critical for appropriate therapeutic decision-making, including the use of tyrosine kinase inhibitors. This report emphasizes the need for heightened awareness of MPAL with BCR-ABL1, representing a form of high-risk acute leukemia with significant therapeutic implications, particularly in resource-limited settings where diagnostic constraints may delay optimal management.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"2170200"},"PeriodicalIF":0.7,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13598378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040753","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":"Dual-Driver Myeloproliferative Neoplasm: Concurrent p190 <i>BCR::ABL1</i> CML and <i>JAK2</i> V617F Mutation: A Case Report and Literature Review.","authors":"Mohamed Elkady, Yulan Jin, Weiqiang Zhao","doi":"10.1155/crh/2927231","DOIUrl":"https://doi.org/10.1155/crh/2927231","url":null,"abstract":"<p><p>The concurrent occurrence of <i>BCR::ABL1</i> rearrangement and <i>JAK2</i> V617F mutation is an exceptionally rare phenomenon, with reported frequencies of 0.2%-2.5% in tested myeloproliferative neoplasm (MPN) cohorts and an estimated overall rate of approximately 0.4% in patients screened for both alterations. These molecular drivers are generally considered mutually exclusive, as <i>BCR::ABL1</i> defines Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML), while <i>JAK2</i> V617F characterizes Ph-negative MPNs. We report a male patient in his 50s with a previously detected <i>JAK2</i> V617F mutation, initially managed as essential thrombocythemia, who later presented with leukocytosis, macrocytic anemia, thrombocytopenia, and absolute monocytosis. Bone marrow demonstrated marked myeloid hyperplasia with atypical megakaryocytes, comprising scattered dwarf forms together with larger forms with \"cloud-like\" nuclei and focal reticulin fibrosis (MF-1). These findings, together with the known <i>JAK2</i> V617F mutation, prompted targeted molecular investigation. High-sensitivity RT-PCR confirmed an isolated e1a2 (p190) <i>BCR::ABL1</i> transcript, the minor breakpoint cluster region isoform occurring in only 1%-2% of CML cases, with the complete absence of the p210 isoform, alongside a concurrent <i>JAK2</i> V617F mutation (allele burden 16%). Standard p210-focused quantitative assays would have produced a false-negative result in this case. The patient received first-line asciminib and was subsequently transitioned to dasatinib, with the <i>BCR::ABL1</i>/<i>ABL1</i> ratio declining from 88.5% at diagnosis to 0.79% at most recent assessment. This case highlights the critical importance of integrated morphologic, cytogenetic, and molecular evaluation in atypical MPN presentations. The admixed megakaryocytic atypia superimposed on myeloid hyperplasia reflected the coexistence of two drivers. Comprehensive profiling, including high-sensitivity RT-PCR capable of detecting the p190 isoform and concurrent <i>JAK2</i> testing, is essential for accurate diagnosis, prognostication, and therapy selection in these rare dual-driver cases.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"2927231"},"PeriodicalIF":0.7,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13598437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149041076","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":"Acquired Amegakaryocytic Thrombocytopenia Presenting as Pancytopenia in a Patient With Chronic Lymphocytic Leukemia: A Case Report.","authors":"Christopher C Chen, Anand Shah, Marina Andrawis, Jared Benjamin, Manali Shah, Anthony Fratella-Calabrese, Victor T Chang","doi":"10.1155/crh/6735469","DOIUrl":"10.1155/crh/6735469","url":null,"abstract":"<p><p>Acquired amegakaryocytic thrombocytopenia (AAMT) is a rare hematologic disorder characterized by severe thrombocytopenia due to an isolated absence of megakaryocytes in the bone marrow, with preservation of other hematopoietic lineages. We present an 84-year-old man with IgHV-mutated chronic lymphocytic leukemia (CLL), diagnosed in 1997 and managed with observation until initiation of ibrutinib for treatment-naïve CLL in 2024. He presented acutely with pancytopenia, for which a bone marrow biopsy showed marked absence of megakaryocytes. While platelet increments with transfusion were minimal and transient, additional treatments included dexamethasone, IVIG, cyclosporine, thrombopoietin receptor agonists, and reinitiation of ibrutinib. The patient eventually succumbed to gastrointestinal bleeding secondary to severe thrombocytopenia. This case underscores the diagnostic importance of early marrow evaluation in CLL patients with unexplained cytopenia. The pathogenesis of AAMT in CLL is likely multifactorial, involving immune dysregulation and impaired megakaryopoiesis. Management remains challenging due to lack of standardized guidelines and unpredictable treatment responses.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"6735469"},"PeriodicalIF":0.7,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13586778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149009160","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":"Chylothorax as an Initial Presentation of Waldenström Macroglobulinemia: Report of Two Cases.","authors":"Yara Hamadah, Wan Ying Tan, Ursula M A de Matos, Ritika Vankina, Kapil Meleveedu, Swarup Kumar","doi":"10.1155/crh/7430484","DOIUrl":"10.1155/crh/7430484","url":null,"abstract":"<p><strong>Background: </strong>Chylothorax is an uncommon form of pleural effusion defined by the pathological accumulation of chyle within the pleural space. Although thoracic duct injury constitutes the most frequent cause, nontraumatic causes, including malignancies and lymphoproliferative disorders, merit consideration. Waldenström macroglobulinemia (WM), a lymphoplasmacytic lymphoma (LPL) characterized by bone marrow involvement and an immunoglobulin M (IgM) monoclonal gammopathy, rarely presents with pulmonary complications, and its association with chylothorax has been described in only a limited number of reports.</p><p><strong>Case presentation: </strong>We describe two patients who presented with right-sided chylothorax as the initial manifestation of WM. Both patients underwent comprehensive diagnostic evaluation confirming LPL and received multimodal management comprising therapeutic pleural interventions and WM-directed systemic therapy.</p><p><strong>Conclusion: </strong>Chylothorax is a rare manifestation of WM and may represent the initial presentation of the disease. Early recognition, comprehensive diagnostic evaluation, and initiation of appropriate disease-directed therapy are essential for symptom control and management. Further studies are needed to better characterize the mechanisms, optimal treatment strategies, and long-term outcomes of WM-associated chylothorax.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"7430484"},"PeriodicalIF":0.7,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13586783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149009175","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":"Intravascular Large B-Cell Lymphoma Presenting as Recurrent Cryptogenic Strokes: A Diagnostic Challenge.","authors":"Veena Krishnan, Habtemariam Dessie, Kimberly Stogner, Jakita Baldwin, Roy Strowd, Rakhee Vaidya, Sarada Krishnamurthy","doi":"10.1155/crh/9959762","DOIUrl":"10.1155/crh/9959762","url":null,"abstract":"<p><p>Intravascular large B-cell lymphoma (IVLBCL) is a rare malignancy and is a challenging diagnosis to make given its varied clinical presentation. Here, we present the case of a 69-year-old male who presented with multiple cryptogenic strokes. Despite multiple hypercoagulable and malignancy workups, no etiology was identified, with multiple CT scans negative for any masses. Ultimately, a vascular abnormality was noted on a CTA of the head and neck, and IVLBCL was diagnosed on biopsy. The patient was initiated on R-CHOP and had improvement in his neurological status after the initiation of chemotherapy, and his ClonoSeq MRD testing is negative. This case is of interest given the lack of imaging findings for this patient prior to diagnosis as all of his CT scans were negative, making it a challenge to diagnose him as well as monitor his response to treatment. Additionally, his case highlights the importance of ClonoSeq MRD testing, which allows for the detection of even minimal amounts of disease in tracking response to treatment.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"9959762"},"PeriodicalIF":0.7,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13589158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149009204","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":"Renal Outcomes Following Autologous Stem Cell Transplantation in Dialysis-Dependent Patients With Multiple Myeloma: A Single-Center Study From a Low- and Middle-Income Country.","authors":"Maher Battat, Ahmad Khursani, Mohammedkhaled J Alhendi, Momen Sawafta, Asa'd A M Daqa, Sa'ed H Zyoud, Mohanad Hassan, Hisham Asaad, Riad Amer, Ahmed Enaya","doi":"10.1155/crh/1808249","DOIUrl":"10.1155/crh/1808249","url":null,"abstract":"<p><strong>Background: </strong>Multiple myeloma (MM) frequently causes renal impairment, and a subset of patients progresses to end-stage renal disease (ESRD) requiring dialysis. Dialysis dependence has historically been considered a relative contraindication to high-dose conditioning and autologous stem cell transplantation (ASCT). Emerging evidence indicates that ASCT may provide effective hematologic control and, in selected patients, renal recovery.</p><p><strong>Methods: </strong>We conducted a retrospective case series of five dialysis-dependent patients with MM who underwent ASCT at An-Najah National University Hospital. Demographic and clinical characteristics, transplant variables, supportive-care measures, infectious and noninfectious complications, hematologic recovery, admission and discharge laboratory values, and short-term outcomes were extracted from the medical records.</p><p><strong>Results: </strong>The five patients had a mean age of 56 years and received reduced-dose melphalan (140 mg/m²), followed by peripheral-blood CD34+ cell infusion. The mean CD34+ collection and infusion doses were 4.3 × 10⁶/kg and 4.1 × 10⁶/kg, respectively. All patients achieved engraftment; mean neutrophil and platelet engraftment occurred on Days 13.0 and 19.4, respectively. Four patients (80%) developed neutropenic fever. <i>Clostridioides difficile</i> and <i>Staphylococcus epidermidis</i> were the most frequently documented pathogens. Two patients developed central line-associated bloodstream infection and septic shock. No 100-day treatment-related mortality occurred. Creatinine and blood urea nitrogen remained elevated, and all patients continued maintenance hemodialysis at discharge.</p><p><strong>Conclusions: </strong>ASCT was feasible in carefully selected dialysis-dependent patients with MM and was associated with timely hematologic recovery and no 100-day treatment-related mortality. Infectious complications and vascular-access management remain major clinical concerns. Larger prospective studies are needed to define long-term renal outcomes and predictors of dialysis independence.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2026 ","pages":"1808249"},"PeriodicalIF":0.7,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977923","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}