Familial platelet disorder with predisposition to myeloid leukemia (FPD/AML): a case report and literature review
10.3760/cma.j.issn.0253-2727.2021.04.007
- VernacularTitle:家族性血小板疾病并急性髓系白血病倾向一例报告并文献复习
- Author:
Ranran ZHANG
1
;
Xiaojuan CHEN
;
Yuanyuan REN
;
Wenyu YANG
;
Xiaofan ZHU
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所）儿童血液病诊疗中心，实验血液学国家重点实验室，国家血液系统疾病临床医学研究中心，天津 300020
- Keywords:
Familial platelet disorder with predisposition to myeloid leukemia;
Gene, RUNX1;
Germline mutation
- From:
Chinese Journal of Hematology
2021;42(4):308-312
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features, bone marrow features, and gene mutations of children with familial platelet disorder with predisposition to myeloid leukemia (FPD/AML) caused by a RUNX1 germline mutation as well as their family members.Methods:The clinical data and gene mutations of a child with FPD/AML hospitalized in the Pediatric Blood Disease Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, and some family members were extracted and analyzed. The literature was searched using "RUNX1 germline mutation" and "FPD/AML" as keywords in the Chinese databases; also PubMed was reviewed until September 2020.Results:A male patient aged 5 with dermatorrhagia was admitted due to thrombocytopenia for more than 3 years. The laboratory tests revealed a peripheral blood routine (WBC 6.38×10 9/L, HGB 113 g/L, PLT 54×10 9/L, NEUT 4.03×10 9/L, and MPV 9.1 fl) . Bone marrow smear revealed dysplasia of megakaryocytes. The immunohistochemistry for CD42b and CD41 highlighted small mononuclear megakaryocytes. Second generation sequencing revealed RUNX1 (exon3:c.520delC: p.R174Efs*10, NM_001001890) frameshift mutations, and its germline mutation was verified via genetic detection of oral epithelial cells. Five members of the family had blood diseases and successively died. The child's mother and maternal grandfather were sequenced for the second generation, and RUNX1 frameshift mutation was detected in the same locus as the child. However, the clinical features among them were different. A total of 37 English literatures were retrieved, and more than 70 FPD/AML families were reported. No relevant Chinese literature was retrieved. Conclusion:Runx1 germline mutations cause FPD/AML with a high risk of progression to myeloid malignancy. Family members carrying the same mutations may exhibit different clinical features and severity.
