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<p>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.</p>

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Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality

  • 期刊论文

  • 发表日期：

    2024年12月31日

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  • Tim Jang,
  • Rachel D. Burnside,
  • Joanna Chaffin,
  • Robert Seifert,
  • John W. Hiemenz

摘要

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.