Hayashi Yoshihiro, Harada Yuka, Huang Gang, Harada Hironori
Laboratory of Oncology, School of Life Science, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan.
Divisions of Pathology and Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Int J Hematol. 2017 Aug;106(2):183-188. doi: 10.1007/s12185-017-2258-5. Epub 2017 May 22.
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.
家族性血小板疾病伴髓系恶性肿瘤倾向（FPD/AML）是一种常染色体显性疾病，其特征为血小板数量和/或质量缺陷，并易发展为多种血液系统恶性肿瘤。RUNX1基因的杂合种系突变是FPD/AML的致病遗传事件。值得注意的是，RUNX1基因种系突变家族中约半数个体发生明显的血液系统恶性肿瘤。由于诊断时的平均年龄超过30岁，潜伏期也相对较长。与散发性血液系统恶性肿瘤中观察到的情况类似，获得性额外遗传事件与遗传性RUNX1突变共同作用，促使疾病进展至明显的恶性阶段。鉴于最近对伴有种系突变的血液系统恶性肿瘤的认识有所增加，FPD/AML被纳入2016年修订的世界卫生组织分类中。在本综述中，我们结合最近的临床和实验研究结果，对FPD/AML进行了更新。
