ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant
The 2016 revised World Health Organization classification identified myeloid neoplasms with germline predisposition as a new diagnostic category. Germline loss-of-function mutations in G6b (G6b-B, C6orf25 or MPIG6B) are associated with congenital macro-thrombocytopenia with focal myelofibrosis, a ra...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-01-01
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| Series: | Leukemia Research Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213048922000152 |
| _version_ | 1811324054925213696 |
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| author | Shiqiang Qu Donglei Zhang Zefeng Xu Yujiao Jia Tiejun Qin Lijuan Pan Wenyu Cai Yudi Zhang Robert Peter Gale Zhijian Xiao |
| author_facet | Shiqiang Qu Donglei Zhang Zefeng Xu Yujiao Jia Tiejun Qin Lijuan Pan Wenyu Cai Yudi Zhang Robert Peter Gale Zhijian Xiao |
| author_sort | Shiqiang Qu |
| collection | DOAJ |
| description | The 2016 revised World Health Organization classification identified myeloid neoplasms with germline predisposition as a new diagnostic category. Germline loss-of-function mutations in G6b (G6b-B, C6orf25 or MPIG6B) are associated with congenital macro-thrombocytopenia with focal myelofibrosis, a rare autosomal recessive disease. It is unclear whether germline G6b variants increase the risk of developing a myeloid neoplasm. Here we describe an adult with Myelodysplastic syndromes and a homozygous germline G6b mutation who achieved hematopoietic reconstitution by hematopoietic stem cell transplantation. As far as we know, this is the first report of adult Myelodysplastic syndromes with germline G6b homozygous variant in the literatures. |
| first_indexed | 2024-04-13T14:06:20Z |
| format | Article |
| id | doaj.art-41ab5e20c98a46dc98e1233b1e57214f |
| institution | Directory Open Access Journal |
| issn | 2213-0489 |
| language | English |
| last_indexed | 2024-04-13T14:06:20Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Leukemia Research Reports |
| spelling | doaj.art-41ab5e20c98a46dc98e1233b1e57214f2022-12-22T02:43:53ZengElsevierLeukemia Research Reports2213-04892022-01-0117100303ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variantShiqiang Qu0Donglei Zhang1Zefeng Xu2Yujiao Jia3Tiejun Qin4Lijuan Pan5Wenyu Cai6Yudi Zhang7Robert Peter Gale8Zhijian Xiao9State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaHematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaState Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaHematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaState Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaState Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaHematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaState Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, ChinaHaematology Section, Division of Experimental Medicine, Department of Medicine, Imperial College London, London, United KingdomState Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Hematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Corresponding author at: MDS and MPN center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.The 2016 revised World Health Organization classification identified myeloid neoplasms with germline predisposition as a new diagnostic category. Germline loss-of-function mutations in G6b (G6b-B, C6orf25 or MPIG6B) are associated with congenital macro-thrombocytopenia with focal myelofibrosis, a rare autosomal recessive disease. It is unclear whether germline G6b variants increase the risk of developing a myeloid neoplasm. Here we describe an adult with Myelodysplastic syndromes and a homozygous germline G6b mutation who achieved hematopoietic reconstitution by hematopoietic stem cell transplantation. As far as we know, this is the first report of adult Myelodysplastic syndromes with germline G6b homozygous variant in the literatures.http://www.sciencedirect.com/science/article/pii/S2213048922000152Myelodysplastic syndromeGenetic predispositionG6b variant |
| spellingShingle | Shiqiang Qu Donglei Zhang Zefeng Xu Yujiao Jia Tiejun Qin Lijuan Pan Wenyu Cai Yudi Zhang Robert Peter Gale Zhijian Xiao ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant Leukemia Research Reports Myelodysplastic syndrome Genetic predisposition G6b variant |
| title | ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant |
| title_full | ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant |
| title_fullStr | ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant |
| title_full_unstemmed | ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant |
| title_short | ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant |
| title_sort | asxl2 mutated myelodysplastic syndrome in a novel germline g6b variant |
| topic | Myelodysplastic syndrome Genetic predisposition G6b variant |
| url | http://www.sciencedirect.com/science/article/pii/S2213048922000152 |
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