再生不良性貧血

Fanconi anemia (FA) is a rare inherited disorder of bone marrow failure that presents with progressive pancytopenia, multiple congenital abnormalities, and an increased predisposition to various malignancies. We describe a 19-year-old male who reported generalized weakness, shortness of breath on exertion, and a dry cough persisting for 1 month. He had undergone three blood transfusions within the preceding 3 months. Clinical examination revealed marked pallor without evidence of jaundice, cyanosis, clubbing, or lymphadenopathy. Laboratory investigations showed pancytopenia, while bone marrow biopsy demonstrated normocellular marrow with trilineage hematopoiesis and mild hemophagocytosis. Radiological assessment identified bilateral ectopic kidneys, and serum ferritin levels were significantly elevated (2753.93 ng/mL). These findings raised a strong clinical suspicion of FA, which was subsequently confirmed through comprehensive genetic testing. This case underscores the importance of considering FA in young adults with unexplained pancytopenia and congenital anomalies, highlighting the need for an integrated, multidisciplinary diagnostic and management approach.

Hematopoietic stem-cell transplantation (HSCT) has evolved from a salvage procedure for otherwise-fatal leukemia into a curative modality spanning nearly every hematological malignancy and several non-malignant disorders. The contemporary landscape has been reshaped by three converging forces: the refinement of disease-specific risk stratification (European LeukemiaNet [ELN] 2022 for acute myeloid leukemia, Molecular International Prognostic Scoring System [IPSS-M] for myelodysplastic syndromes, Mutation-Enhanced International Prognostic Scoring System [MIPSS70+ v2.0], and Myelofibrosis Transplant Scoring System [MTSS] for myelofibrosis); the integration of measurable residual disease (MRD) into dynamic, response-adapted transplant decisions; and the approval of immune effector cell therapies that have displaced transplantation from several long-standing indications while creating new ones (bridge-to-transplant, post-CAR-T consolidation). In parallel, post-transplant cyclophosphamide (PTCy) has largely equalized outcomes across matched sibling, matched unrelated, and mismatched alternative donors, and novel agents (ruxolitinib, belumosudil, axatilimab) have materially reduced graft-versus-host disease (GVHD) morbidity. This narrative review synthesizes current indications for autologous (auto-HSCT) and allogeneic (allo-HSCT) transplantations in adults, and flags areas of persistent controversy where randomized data are still maturing. Across all indications, the clinician's question is shifting from "transplant or not?" towards "which donor, which conditioning, which bridge, and which post-transplant maintenance?", each tailored to disease biology, MRD trajectory, and patient fitness.

BACKGROUND: South Asian Americans (SAAs) represent the fastest-growing U.S. immigrant group but remain underrepresented in breast cancer research. This study utilizes the National Cancer Database (NCDB) to evaluate differences in tumor characteristics, treatment patterns, and survival outcomes between SAAs and non-Hispanic Whites (NHWs). MATERIALS AND METHODS: A retrospective cohort analysis was conducted using NCDB data from 2004-2021. Women with breast cancer were stratified by race/ethnicity (SAA vs. NHW), and demographic, clinical, and treatment variables were compared. Outcomes assessed were overall survival (OS) and treatment delays, defined as initiation of surgery, chemotherapy, or radiation therapy > 60 days after diagnosis. Multivariable Cox proportional hazards models assessed OS. RESULTS: Among 2,363,627 patients, 20,561 (0.9%) were SAAs and 2,343,066 (99.1%) NHWs. SAAs were younger at diagnosis, with 37.6% aged 20-49 vs. 20.6% of NHWs (p < 0.001). Insurance coverage differed, with SAAs more likely privately insured (63.0% vs. 54.2%, p < 0.001), less likely on Medicare (17.2% vs. 37.9%), and more often uninsured (4.5% vs. 1.2%). Time to first treatment was longer for SAAs (39.55 vs. 37.17 days, p < 0.001). Surgical delays >60 days increased mortality by 59%, while chemotherapy delays raised it by 44%. SAAs demonstrated higher survival at 5, 10, and 15 years (93%, 87%, 81%) vs. NHWs (87%, 76%, 64%). Median survival was 225.8 months but not estimable for SAAs. SAAs presented with aggressive subtypes: triple-negative and HER2-positive tumors. CONCLUSIONS: SAAs present younger with aggressive subtypes and treatment delays yet maintain survival advantages; reducing care barriers and clarifying tumor biology are vital to improving outcomes.

Pancytopenia is a significant hematological complication in patients with systemic lupus erythematosus (SLE), with an estimated prevalence of 10-40%. It is defined as a simultaneous decrease in red blood cells, white blood cells, and platelets. Although isolated cytopenias are more common, pancytopenia may indicate severe disease activity or secondary complications, such as bone marrow suppression or hemophagocytic syndromes. This review aims to summarize and synthesize current knowledge on the etiology, pathophysiology, diagnostic approach, and treatment strategies for pancytopenia in SLE, as well as its differentiation from other causes of bone marrow failure. The pathogenesis of pancytopenia in SLE is multifactorial and includes drug-induced bone marrow suppression, hypersplenism, myelofibrosis, macrophage activation syndrome (MAS), and autoimmune bone marrow failure. The diagnostic evaluation includes hematologic assessment, bone marrow examination, and exclusion of alternative diagnoses, such as aplastic anemia and paroxysmal nocturnal hemoglobinuria. Therapeutic management depends on the underlying cause. We also summarize published case reports comparing treatment approaches and clinical outcomes. The role of rituximab (RTX) in the management of pancytopenia and isolated cytopenias associated with SLE is discussed in detail. Particular attention is given to its mechanisms of action, safety profile and mixed clinical outcomes, documented in multicenter retrospective cohort studies, meta-analyses, and case series. Early recognition of pancytopenia remains a clinical challenge and requires well-structured diagnostic and therapeutic strategies. A thorough understanding of its underlying mechanisms and clinical manifestations is essential to avoid delays in treatment and prevent complications.

BACKGROUND: Aplastic anaemia (AA) and paroxysmal nocturnal haemoglobinuria (PNH) are closely related acquired bone marrow failure syndromes sharing an immune-mediated pathogenesis. Cytogenetic abnormalities are uncommon in AA-PNH overlap syndrome, and their significance remains uncertain. We report a case of non-severe AA-PNH overlap syndrome harbouring a low-level chromosome 17p deletion in the absence of morphologic or molecular evidence of myeloid neoplasm. CASE PRESENTATION: A 56-year-old female presented with recurrent aphthous ulcers and pancytopenia. Complete blood count revealed haemoglobin of 6.3 g/dL, total leukocyte count of 2800/µL with an absolute neutrophil count of 982/µL, and platelet count of 10,000/µL. Bone marrow aspirate showed adequate erythropoiesis with normoblastic to megaloblastic maturation and active myelopoiesis. Bone marrow biopsy revealed a markedly hypocellular marrow (10% cellularity) with focal erythroid prominence. No dysplasia, excess blasts, ring sideroblasts, and abnormal topography were identified. Flow cytometric PNH evaluation demonstrated a large type III clone involving 78% of neutrophils and 64% of monocytes. FISH analysis using TP53/CEP17 probes revealed chromosome 17p deletion in 12 of 200 nuclei (6%). Next-generation sequencing did not identify TP53 or other myeloid-associated mutations. The patient was treated with horse anti-thymocyte globulin, cyclosporine, romiplostim, erythropoietin, and irradiated blood products. She achieved transfusion independence and remains clinically stable on follow-up of 27 months. CONCLUSION: Low-level chromosome 17p deletion may occur in AA-PNH overlap syndrome without morphologic or molecular evidence of myeloid neoplasm. Careful clinicopathologic correlation and long-term surveillance are essential before attributing such abnormalities to clonal evolution.