Clonal hematopoiesis in adult pure red cell aplasia
Autor: | Yasushi Miyazaki, Keiji Kuba, Kaoru Tohyama, Fumihiro Ishida, Kensuke Usuki, Shigeharu Ueki, Akiko Ohta, Ayumi Omokawa, Makoto Hirokawa, Seishi Ogawa, Souichi Koyota, Yasuhito Nannya, Yasuhiro Nakashima, Shinya Sato, Shinji Nakao, Junki Kohmaru, Tomoo Saga, Akira Matsuda, Naohito Fujishima, Hiroshi Yamasaki, Kinuko Mitani, Yuki Moritoki, Kenichi Sawada |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Adult Myeloid Thymoma Anemia medicine.medical_treatment Science Pure red cell aplasia Single-nucleotide polymorphism Gene mutation Red-Cell Aplasia Pure urologic and male genital diseases Article Cell Line 03 medical and health sciences 0302 clinical medicine Medicine Humans Clinical genetics Progenitor cell Aged Aged 80 and over Multidisciplinary business.industry Anemia Aplastic Immunosuppression Middle Aged medicine.disease 030104 developmental biology medicine.anatomical_structure Leukemia Myeloid 030220 oncology & carcinogenesis Immunology Mutation Clonal Hematopoiesis business Haematological diseases |
Zdroj: | Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021) Scientific Reports |
ISSN: | 2045-2322 |
Popis: | 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. |
Databáze: | OpenAIRE |
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