Clonal hematopoiesis in adult pure red cell aplasia

Naohito Fujishima, Junki Kohmaru, Souichi Koyota, Keiji Kuba, Tomoo Saga, Ayumi Omokawa, Yuki Moritoki, Shigeharu Ueki, Fumihiro Ishida, Shinji Nakao, Akira Matsuda, Akiko Ohta, Kaoru Tohyama, Hiroshi Yamasaki, Kensuke Usuki, Yasuhiro Nakashima, Shinya Sato, Yasushi Miyazaki, Yasuhito Nannya, Seishi OgawaKenichi Sawada, Kinuko Mitani, Makoto Hirokawa

研究成果: Contribution to journalArticle査読

抄録

Idiopathic pure red cell aplasia (PRCA) and secondary PRCA associated with thymoma and large granular lymphocyte leukemia are generally considered to be immune-mediated. The PRCA2004/2006 study showed that poor responses to immunosuppression and anemia relapse were associated with death. PRCA may represent the prodrome to MDS. Thus, clonal hematopoiesis may be responsible for treatment failure. We investigated gene mutations in myeloid neoplasm-associated genes in acquired PRCA. We identified 21 mutations affecting amino acid sequences in 11 of the 38 adult PRCA patients (28.9%) using stringent filtering of the error-prone sequences and SNPs. Four PRCA patients showed 7 driver mutations in TET2, DNMT3A and KDM6A, and 2 PRCA patients carried multiple mutations in TET2. Five PRCA patients had mutations with high VAFs exceeding 0.3. These results suggest that clonal hematopoiesis by stem/progenitor cells might be related to the pathophysiology of chronic PRCA in certain adult patients.

本文言語英語
論文番号2253
ジャーナルScientific reports
11
1
DOI
出版ステータス出版済み - 12 2021
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All Science Journal Classification (ASJC) codes

  • 一般

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