Jang Tim, Burnside Rachel D, Chaffin Joanna, Seifert Robert, Hiemenz John W
Department of Medicine, Division of Hematology/Oncology, University of Florida College of Medicine, Gainesville, FL, USA.
Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, FL, USA.
Ann Hematol. 2025 Jan;104(1):815-819. doi: 10.1007/s00277-024-06166-0. Epub 2024 Dec 31.
This case is a rare presentation of severe aplastic anemia in a 31-year-old male with acquired clonality of the X chromosome as the sole cytogenetic abnormality. This abnormality has not been reported to our knowledge, and the significance of this finding remains unclear. Comprehensive diagnostic workup included bone marrow biopsy, cytogenetic analysis, and Next-Generation sequencing, which revealed no tier I/II variants typically associated with clonal hematopoietic disorders. The patient was managed with triple immunosuppressive therapy pending hematopoietic stem cell transplant evaluation and workup. The clinical and genetic findings in this case are noteworthy for possible pre-malignant aberration, highlighting the need for further investigation into isolated chromosomal anomalies in aplastic anemia in the future.
该病例为一名31岁男性,罕见地表现为严重再生障碍性贫血,其唯一的细胞遗传学异常是获得性X染色体克隆性。据我们所知,这种异常尚未见报道,这一发现的意义仍不明确。全面的诊断检查包括骨髓活检、细胞遗传学分析和二代测序,结果显示没有通常与克隆性造血疾病相关的I/II级变异。在进行造血干细胞移植评估和检查之前,该患者接受了三联免疫抑制治疗。该病例的临床和基因发现因可能存在的癌前畸变而值得关注,这凸显了未来对再生障碍性贫血中孤立染色体异常进行进一步研究的必要性。