ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant

Shiqiang Qu; Donglei Zhang; Zefeng Xu; Yujiao Jia; Tiejun Qin; Lijuan Pan; Wenyu Cai; Yudi Zhang; Robert Peter Gale; Zhijian Xiao

doi:10.1016/j.lrr.2022.100303

ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant

Leuk Res Rep. 2022 Mar 17:17:100303. doi: 10.1016/j.lrr.2022.100303. eCollection 2022.

Authors

Shiqiang Qu^{1

2}, Donglei Zhang³, Zefeng Xu^{1

2}, Yujiao Jia³, Tiejun Qin^{1

2}, Lijuan Pan^{1

2}, Wenyu Cai³, Yudi Zhang^{1

2}, Robert Peter Gale⁴, Zhijian Xiao^{1

2

3}

Affiliations

¹ State 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.
² MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
³ Hematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
⁴ Haematology Section, Division of Experimental Medicine, Department of Medicine, Imperial College London, London, United Kingdom.

Abstract

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.

Keywords: G6b variant; Genetic predisposition; Myelodysplastic syndrome.

Publication types

Case Reports