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Abstract：
Inherited bone marrow failure syndromes (IBMFS) are rare cancer predisposition syndromes with an especially high risk of transformation to myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML). We performed a retrospective systematic review of reported MDS/AML arising in the eight most common IBMFS to determine the frequency and outcome of chromosome 7 abnormalities. We identified 738 MDS/AML cases of 4,293 individuals. Monosomy 7 or del (7q) occurred in ∼17%. Greater understanding of the roles played by sequential acquisition of genetic and cytogenetic changes will provide insights into myeloid leukemogenesis and improve the surveillance and hopefully outcomes for individuals with IBMFS.
摘要：
遗传性骨髓衰竭综合征（IBMFS）是罕见的癌症易感性综合征，具有转化为骨髓增生异常综合征（MDS）和/或急性髓细胞性白血病（AML）的特别高风险。我们对8种最常见的IBMFS中出现的MDS/AML进行了回顾性系统评价，以确定7号染色体异常的频率和结果。我们确定了4,293例患者的738例MDS/AML病例。单体7或del(7q)发生在17%。对遗传和细胞遗传学变化的顺序获取所起的作用的更多理解将提供对髓样白血病发生的见解，并改善IBMFS患者的监测和希望的结果。
