Qu Shiqiang, Zhang Donglei, Xu Zefeng, Jia Yujiao, Qin Tiejun, Pan Lijuan, Cai Wenyu, Zhang Yudi, Gale Robert Peter, Xiao Zhijian
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.
MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Leuk Res Rep. 2022 Mar 17;17:100303. doi: 10.1016/j.lrr.2022.100303. eCollection 2022.
The 2016 revised World Health Organization classification identified myeloid neoplasms with germline predisposition as a new diagnostic category. Germline mutations in (G6b-B, C6orf25 or MPIG6B) are associated with congenital macro-thrombocytopenia with focal myelofibrosis, a rare autosomal recessive disease. It is unclear whether germline variants increase the risk of developing a myeloid neoplasm. Here we describe an adult with Myelodysplastic syndromes and a homozygous germline 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 homozygous variant in the literatures.
2016年修订的世界卫生组织分类将具有种系易感性的髓系肿瘤确定为一个新的诊断类别。（G6b - B、C6orf25或MPIG6B）中的种系突变与伴有局灶性骨髓纤维化的先天性大血小板减少症相关，这是一种罕见的常染色体隐性疾病。尚不清楚种系变体是否会增加发生髓系肿瘤的风险。在此，我们描述了一名患有骨髓增生异常综合征且存在纯合种系突变的成年人，其通过造血干细胞移植实现了造血重建。据我们所知，这是文献中首例关于具有种系纯合变体的成人骨髓增生异常综合征的报告。
