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Clonal hematopoiesis in adult pure red cell aplasia
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 re...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838416/ https://www.ncbi.nlm.nih.gov/pubmed/33500526 http://dx.doi.org/10.1038/s41598-021-81890-5 |
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author | Fujishima, Naohito Kohmaru, Junki Koyota, Souichi Kuba, Keiji Saga, Tomoo Omokawa, Ayumi Moritoki, Yuki Ueki, Shigeharu Ishida, Fumihiro Nakao, Shinji Matsuda, Akira Ohta, Akiko Tohyama, Kaoru Yamasaki, Hiroshi Usuki, Kensuke Nakashima, Yasuhiro Sato, Shinya Miyazaki, Yasushi Nannya, Yasuhito Ogawa, Seishi Sawada, Kenichi Mitani, Kinuko Hirokawa, Makoto |
author_facet | Fujishima, Naohito Kohmaru, Junki Koyota, Souichi Kuba, Keiji Saga, Tomoo Omokawa, Ayumi Moritoki, Yuki Ueki, Shigeharu Ishida, Fumihiro Nakao, Shinji Matsuda, Akira Ohta, Akiko Tohyama, Kaoru Yamasaki, Hiroshi Usuki, Kensuke Nakashima, Yasuhiro Sato, Shinya Miyazaki, Yasushi Nannya, Yasuhito Ogawa, Seishi Sawada, Kenichi Mitani, Kinuko Hirokawa, Makoto |
author_sort | Fujishima, Naohito |
collection | PubMed |
description | 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 | Online Article Text |
id | pubmed-7838416 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-78384162021-01-28 Clonal hematopoiesis in adult pure red cell aplasia Fujishima, Naohito Kohmaru, Junki Koyota, Souichi Kuba, Keiji Saga, Tomoo Omokawa, Ayumi Moritoki, Yuki Ueki, Shigeharu Ishida, Fumihiro Nakao, Shinji Matsuda, Akira Ohta, Akiko Tohyama, Kaoru Yamasaki, Hiroshi Usuki, Kensuke Nakashima, Yasuhiro Sato, Shinya Miyazaki, Yasushi Nannya, Yasuhito Ogawa, Seishi Sawada, Kenichi Mitani, Kinuko Hirokawa, Makoto Sci Rep Article 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. Nature Publishing Group UK 2021-01-26 /pmc/articles/PMC7838416/ /pubmed/33500526 http://dx.doi.org/10.1038/s41598-021-81890-5 Text en © The Author(s) 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Fujishima, Naohito Kohmaru, Junki Koyota, Souichi Kuba, Keiji Saga, Tomoo Omokawa, Ayumi Moritoki, Yuki Ueki, Shigeharu Ishida, Fumihiro Nakao, Shinji Matsuda, Akira Ohta, Akiko Tohyama, Kaoru Yamasaki, Hiroshi Usuki, Kensuke Nakashima, Yasuhiro Sato, Shinya Miyazaki, Yasushi Nannya, Yasuhito Ogawa, Seishi Sawada, Kenichi Mitani, Kinuko Hirokawa, Makoto Clonal hematopoiesis in adult pure red cell aplasia |
title | 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_short | Clonal hematopoiesis in adult pure red cell aplasia |
title_sort | clonal hematopoiesis in adult pure red cell aplasia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838416/ https://www.ncbi.nlm.nih.gov/pubmed/33500526 http://dx.doi.org/10.1038/s41598-021-81890-5 |
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