Somatic mutations in acquired pure red cell aplasia |
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| Affiliation: | 1. Department of Hematology and Clinical Oncology, Shinshu University School of Medicine, Matsumoto, Nagano, Japan;2. Department of Health and Medical Sciences, Graduate School of Medicine, Shinshu University, Matsumoto, Nagano, Japan;3. Department of Biomedical Laboratory Sciences, Shinshu University School of Medicine, Matsumoto, Japan;1. Solid State Physics Division, Bhabha Atomic Research Centre, Mumbai 400 085, India;2. Homi Bhabha National Institute, Anushaktinagar, Mumbai 400 094, India;3. Fuel Chemistry Division, Bhabha Atomic Research Centre, Mumbai 400 085, India;1. Institute of Energy Storage Technology, Changsha University of Science and Technology, Changsha 410114, China;2. College of Materials Science and Engineering, Changsha University of Science and Technology, Changsha, 410114, China;3. National Engineering Laboratory of Highway Maintenance Technology, School of Traffic and Transportation Engineering, Changsha University of Science and Technology, Changsha 410114, China;1. Department of Chemical Engineering, Hanyang University, 222, Wangsimni-ro, Seongdong-gu, Seoul, South Korea;2. Department of Environmental Engineering, Anyang University, Anyang 5-dong, Manan-Gu, Anyang, Gyunggi-do, South Korea |
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| Abstract: | Acquired pure red cell aplasia (PRCA) is a syndrome characterized by anemia and a marked reduction of erythroid progenitor cells with various etiologies. The 3 major subtypes of PRCA are idiopathic PRCA, large granular lymphocytic leukemia-associated PRCA and thymoma-associated PRCA, which are thought to be caused by a T-cell-mediated mechanism. In these 3 subtypes, an expansion of clonal cytotoxic T cells is often detected. In addition, those T cells recurrently harbor somatic mutations of STAT3, a gene coding one of the important signal transducers in the JAK/STAT system. Somatic mutations of clonal hematopoiesis (CH)-related genes, including epigenetic modifying genes, have also been reported, however, the data are still not mature enough upon which to draw conclusion, Somatic mutations of STAT3 and CH-related genes may be unique characteristics of acquired PRCA. However, their involvement in dyserythropoiesis or clinical relevance to the clinical course of those somatic mutations. Mutational landscapes, their involvements in dyserythropoiesis and clinical relevance in acquired PRCA remains unclear, and further investigation is needed. |
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