{"title":"Myelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1).","authors":"Shinsaku Imashuku, Yasuhiro Kazuma, Kazuhisa Chonabayashi, Yutaka Shimazu, Junya Kanda, Yasuhito Nannya, Seishi Ogawa, Naoyuki Anzai","doi":"10.1007/s12185-025-03967-5","DOIUrl":null,"url":null,"abstract":"<p><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 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.</p>","PeriodicalId":13992,"journal":{"name":"International Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12185-025-03967-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
The International Journal of Hematology, the official journal of the Japanese Society of Hematology, has a long history of publishing leading research in hematology. The journal comprises articles that contribute to progress in research not only in basic hematology but also in clinical hematology, aiming to cover all aspects of this field, namely, erythrocytes, leukocytes and hematopoiesis, hemostasis, thrombosis and vascular biology, hematological malignancies, transplantation, and cell therapy. The expanded [Progress in Hematology] section integrates such relevant fields as the cell biology of stem cells and cancer cells, and clinical research in inflammation, cancer, and thrombosis. Reports on results of clinical trials are also included, thus contributing to the aim of fostering communication among researchers in the growing field of modern hematology. The journal provides the best of up-to-date information on modern hematology, presenting readers with high-impact, original work focusing on pivotal issues.
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