Scholarlink

<p>We report here a case of myelodysplastic syndrome (MDS) that developed in a 60-year-old female with dehydrated hereditary stomatocytosis 1 (DHS1) with <i>PIEZO1</i> gene mutation (p. E2496ELE). The patient had a non-transfused status until the age of 60, when her anemia progressed. Bone marrow examination revealed multilineage MDS (no increase in blasts) with a non-complex karyotype showing two types of ring chromosomes (RCs) confirmed by the G-banding method. A targeted next-generation sequencing (NGS) assay revealed <i>Tet methylcytosine dioxygenase 2 (TET2)</i> gene mutations (p. Y592fs and p. R1261C), and 9p amplification was noted. Spectral karyotyping determined that RCs were derived from chromosome 9, suggesting that the <i>JAK2</i> gene might have played a role in MDS development. As a treatment, we plan to give a hypomethylating agent.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Myelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1)

  • 期刊论文

  • 发表日期：

    2025年3月14日

查看全文
  • Shinsaku Imashuku,
  • Yasuhiro Kazuma,
  • Kazuhisa Chonabayashi,
  • Yutaka Shimazu,
  • Junya Kanda,
  • Yasuhito Nannya,
  • Seishi Ogawa,
  • Naoyuki Anzai

摘要

We report here a case of myelodysplastic syndrome (MDS) that developed in a 60-year-old female with dehydrated hereditary stomatocytosis 1 (DHS1) with PIEZO1 gene mutation (p. E2496ELE). The patient had a non-transfused status until the age of 60, when her anemia progressed. Bone marrow examination revealed multilineage MDS (no increase in blasts) with a non-complex karyotype showing two types of ring chromosomes (RCs) confirmed by the G-banding method. A targeted next-generation sequencing (NGS) assay revealed Tet methylcytosine dioxygenase 2 (TET2) gene mutations (p. Y592fs and p. R1261C), and 9p amplification was noted. Spectral karyotyping determined that RCs were derived from chromosome 9, suggesting that the JAK2 gene might have played a role in MDS development. As a treatment, we plan to give a hypomethylating agent.