Clonal hematopoiesis in adult pure red cell aplasia
Abstract 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. PR...
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Nature Portfolio
2021
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oai:doaj.org-article:5b01912c18ce4399a6aa2f25513dfa7f2021-12-02T13:23:50ZClonal hematopoiesis in adult pure red cell aplasia10.1038/s41598-021-81890-52045-2322https://doaj.org/article/5b01912c18ce4399a6aa2f25513dfa7f2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-81890-5https://doaj.org/toc/2045-2322Abstract 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.Naohito FujishimaJunki KohmaruSouichi KoyotaKeiji KubaTomoo SagaAyumi OmokawaYuki MoritokiShigeharu UekiFumihiro IshidaShinji NakaoAkira MatsudaAkiko OhtaKaoru TohyamaHiroshi YamasakiKensuke UsukiYasuhiro NakashimaShinya SatoYasushi MiyazakiYasuhito NannyaSeishi OgawaKenichi SawadaKinuko MitaniMakoto HirokawaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021) |
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Medicine R Science Q 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 Ogawa Kenichi Sawada Kinuko Mitani Makoto Hirokawa Clonal hematopoiesis in adult pure red cell aplasia |
| description |
Abstract 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. |
| format |
article |
| author |
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 Ogawa Kenichi Sawada Kinuko Mitani Makoto Hirokawa |
| author_facet |
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 Ogawa Kenichi Sawada Kinuko Mitani Makoto Hirokawa |
| author_sort |
Naohito Fujishima |
| title |
Clonal hematopoiesis in adult pure red cell aplasia |
| title_short |
Clonal hematopoiesis in adult pure red cell aplasia |
| title_full |
Clonal hematopoiesis in adult pure red cell aplasia |
| title_fullStr |
Clonal hematopoiesis in adult pure red cell aplasia |
| title_full_unstemmed |
Clonal hematopoiesis in adult pure red cell aplasia |
| title_sort |
clonal hematopoiesis in adult pure red cell aplasia |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/5b01912c18ce4399a6aa2f25513dfa7f |
| work_keys_str_mv |
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| _version_ |
1718393151853428736 |