Myeloid neoplasms with germ line RUNX1 mutation

被引：25

作者：

Hayashi, Yoshihiro ^{[1
,2
,3
]}

Harada, Yuka ^{[4
]}

Huang, Gang ^{[2
,3
]}

Harada, Hironori ^{[1
]}

机构：

[1] Tokyo Univ Pharm & Life Sci, Sch Life Sci, Lab Oncol, 1432-1 Horinouchi, Hachioji, Tokyo 1920392, Japan

[2] Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA

[3] Cincinnati Childrens Hosp Med Ctr, Div Expt Hematol & Canc Biol, Cincinnati, OH 45229 USA

[4] Bunkyo Gakuin Univ, Fac Hlth Sci Technol, Dept Clin Lab Med, Tokyo 1130023, Japan

来源：

INTERNATIONAL JOURNAL OF HEMATOLOGY | 2017年 / 106卷 / 02期

关键词：

RUNX1; FPD/AML; FPD/MM; Germ line mutation; FAMILIAL PLATELET DISORDER; ACUTE MYELOGENOUS LEUKEMIA; HEMATOPOIETIC STEM-CELLS; SOMATIC MUTATIONS; C-CBL; MYELODYSPLASTIC SYNDROME; CLONAL HEMATOPOIESIS; ADULT HEMATOPOIESIS; AML1/RUNX1; GENE; POINT MUTATIONS;

D O I：

10.1007/s12185-017-2258-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial platelet disorder with propensity to myeloid malignancies (FPD/AML) is an autosomal dominant disorder characterized by quantitative and/or qualitative platelet defects with a tendency to develop a variety of hematological malignancies. Heterozygous germ line mutations in the RUNX1 gene are responsible genetic events for FPD/AML. Notably, about half of individuals in the family with germ line mutations in RUNX1 develop overt hematological malignancies. The latency is also relatively long as an average age at diagnosis is more than 30 years. Similar to what is observed in sporadic hematological malignancies, acquired additional genetic events cooperate with inherited RUNX1 mutations to progress the overt malignant phase. Reflecting recent increased awareness of hematological malignancies with germ line mutations, FPD/AML was added in the revised WHO 2016 classification. In this review, we provide an update on FPD/AML with recent clinical and experimental findings.

引用

页码：183 / 188

页数：6

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