論文

2021年

[Emergence of mutation in the colony-stimulating factor 3 receptor gene during follow-up of unclassifiable myeloproliferative neoplasm].

[Rinsho ketsueki] The Japanese journal of clinical hematology
  • Shinpei Harada
  • Kohei Okada
  • Shota Yokoyama
  • Daisuke Hidaka
  • Eiko Hayase
  • Masahiro Onozawa
  • Hideki Goto
  • Daigo Hashimoto
  • Kaoru Kahata
  • Tomoyuki Endo
  • Takanori Teshima
  • 全て表示

62
11
開始ページ
1609
終了ページ
1614
記述言語
日本語
掲載種別
研究論文(学術雑誌)
DOI
10.11406/rinketsu.62.1609

A 25-year-old male with a medical history of stress polycythemia was admitted to a previous hospital for leukocytosis, anemia, and thrombocytopenia. Bone marrow examination revealed left-shifted myeloid hyperplasia without increased blasts and normal male karyotype. No mutations of JAK2, V617F, and colony-stimulating factor 3 receptor gene (CSF3R) were detected. Fluorescence in-situ hybridization for BCR-ABL1 and FIP1L1-PDGFRA were negative. Based on these findings, a diagnosis of an unclassifiable myeloproliferative neoplasm was made, and he was started on hydroxyurea treatment. He was referred to our hospital in April 2016 for transfusion dependence. Bone marrow examination performed at our hospital revealed granulocytic dysplasia and CSF3R T618I was detected. After induction therapy, CSF3R T618I became undetectable, and he went on to undergo allogeneic stem cell transplantation in October 2016. He has been in remission for >4 years posttransplantation. CSF3R T618I is one of the genes responsible for chronic neutrophilic leukemia and atypical chronic myeloid leukemia, suggesting its involvement in the pathogenesis of this case.

リンク情報
DOI
https://doi.org/10.11406/rinketsu.62.1609
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/34866084
ID情報
  • DOI : 10.11406/rinketsu.62.1609
  • PubMed ID : 34866084

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