以获得性X染色体克隆为唯一异常的严重再生障碍性贫血。

IF 3 3区 医学 Q2 HEMATOLOGY Annals of Hematology Pub Date : 2024-12-31 DOI:10.1007/s00277-024-06166-0
Tim Jang, Rachel D Burnside, Joanna Chaffin, Robert Seifert, John W Hiemenz
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引用次数: 0

摘要

本病例是一例罕见的严重再生障碍性贫血,患者为31岁男性,获得性X染色体克隆为唯一的细胞遗传学异常。据我们所知,这种异常尚未被报道,这一发现的意义尚不清楚。全面的诊断工作包括骨髓活检、细胞遗传学分析和下一代测序,没有发现与克隆造血疾病典型相关的I/II级变异。患者接受三联免疫抑制治疗,等待造血干细胞移植评估和检查。该病例的临床和遗传学结果值得注意,可能存在恶性前畸变,强调未来需要进一步研究再生障碍性贫血中分离的染色体异常。
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Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.

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.

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来源期刊
Annals of Hematology
Annals of Hematology 医学-血液学
CiteScore
5.60
自引率
2.90%
发文量
304
审稿时长
2 months
期刊介绍: Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.
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