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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.
Afiliação
  • Fujishima N; Division of Blood Transfusion, 44-2 Hiroomote Aza Hasunuma, Akita, 010-8543, Japan. naofuji@doc.med.akita-u.ac.jp.
  • Kohmaru J; Akita University Bioscience Education and Research Center, Akita, Japan.
  • Koyota S; Akita University Bioscience Education and Research Center, Akita, Japan.
  • Kuba K; Akita University Bioscience Education and Research Center, Akita, Japan.
  • Saga T; Department of Biochemistry and Metabolic Science, Akita University Graduate School of Medicine, Akita, Japan.
  • Omokawa A; Department of General Internal Medicine and Clinical Laboratory Medicine, Akita University Graduate School of Medicine, Akita, Japan.
  • Moritoki Y; Department of General Internal Medicine and Clinical Laboratory Medicine, Akita University Graduate School of Medicine, Akita, Japan.
  • Ueki S; Department of General Internal Medicine and Clinical Laboratory Medicine, Akita University Graduate School of Medicine, Akita, Japan.
  • Ishida F; Department of General Internal Medicine and Clinical Laboratory Medicine, Akita University Graduate School of Medicine, Akita, Japan.
  • Nakao S; Department of Biomedical Laboratory Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
  • Matsuda A; Department of Cellular Transplantation Biology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
  • Ohta A; Department of Hemato-Oncology, International Medical Center, Saitama Medical University, Saitama, Japan.
  • Tohyama K; Division of Public Health, Department of Social Medicine, Saitama Medical University, Saitama, Japan.
  • Yamasaki H; Department of Laboratory Medicine, Kawasaki Medical School, Okayama, Japan.
  • Usuki K; Department of Hematology and Oncology, Kumamoto City Hospital, Kumamoto, Japan.
  • Nakashima Y; Department of Hematology, NTT Medical Center Tokyo, Tokyo, Japan.
  • Sato S; Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Miyazaki Y; Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
  • Nannya Y; Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
  • Ogawa S; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Sawada K; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Mitani K; Department of Hematology, Nephrology and Rheumatology, Akita University Graduate School of Medicine, Akita, Japan.
  • Hirokawa M; Department of Hematology and Oncology, Dokkyo Medical University, Tochigi, Japan.
Sci Rep ; 11(1): 2253, 2021 01 26.
Article em En | MEDLINE | ID: mdl-33500526
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aplasia Pura de Série Vermelha / Hematopoiese Clonal Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aplasia Pura de Série Vermelha / Hematopoiese Clonal Idioma: En Ano de publicação: 2021 Tipo de documento: Article