Seiter Karen, Htun Kyaw, Baskind Paul, Liu Zach
1Department of Medicine, New York Medical College, Valhalla, USA.
Emerge Laboratories, Suffern, USA.
Biomark Res. 2018 Feb 13;6:7. doi: 10.1186/s40364-018-0121-3. eCollection 2018.
Myelodysplastic syndromes and acute myeloid leukemia usually occur sporadically in older adults. More recently cases of familial acute myeloid leukemia and/or myelodysplastic syndrome have been reported.
Currently we report a father and son who both developed myelodysplastic syndrome that progressed to acute myeloid leukemia. Both patients were found to have the identical mutation of on nextgen sequencing of both hematologic and nonhematologic tissues.
These cases support the diagnosis of a germline mutation of .
骨髓增生异常综合征和急性髓系白血病通常在老年人中散发性发生。最近有家族性急性髓系白血病和/或骨髓增生异常综合征的病例报道。
目前我们报告一对父子，他们都患上了骨髓增生异常综合征，并进展为急性髓系白血病。在对血液学和非血液学组织进行二代测序时，发现两名患者都有相同的[具体基因名称]突变。
这些病例支持[具体基因名称]种系突变的诊断。
