Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland.
Howard Hughes Medical Institute and the Ludwig Center for Cancer Genetics and Therapeutics, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland.
Am J Pathol. 2014 Jan;184(1):260-70. doi: 10.1016/j.ajpath.2013.09.023. Epub 2013 Nov 6.
Large-magnitude numerical distinctions (>10-fold) among drug responses of genetically contrasting cancers were crucial for guiding the development of some targeted therapies. Similar strategies brought epidemiological clues and prevention goals for genetic diseases. Such numerical guides, however, were incomplete or low magnitude for Fanconi anemia pathway (FANC) gene mutations relevant to cancer in FANC-mutation carriers (heterozygotes). We generated a four-gene FANC-null cancer panel, including the engineering of new PALB2/FANCN-null cancer cells by homologous recombination. A characteristic matching of FANCC-null, FANCG-null, BRCA2/FANCD1-null, and PALB2/FANCN-null phenotypes was confirmed by uniform tumor regression on single-dose cross-linker therapy in mice and by shared chemical hypersensitivities to various inter-strand cross-linking agents and γ-radiation in vitro. Some compounds, however, had contrasting magnitudes of sensitivity; a strikingly high (19- to 22-fold) hypersensitivity was seen among PALB2-null and BRCA2-null cells for the ethanol metabolite, acetaldehyde, associated with widespread chromosomal breakage at a concentration not producing breaks in parental cells. Because FANC-defective cancer cells can share or differ in their chemical sensitivities, patterns of selective hypersensitivity hold implications for the evolutionary understanding of this pathway. Clinical decisions for cancer-relevant prevention and management of FANC-mutation carriers could be modified by expanded studies of high-magnitude sensitivities.
在基因差异显著的癌症中,药物反应的数值差异(>10 倍)对于指导某些靶向治疗的发展至关重要。类似的策略为遗传性疾病带来了流行病学线索和预防目标。然而,对于与 FANC 基因突变相关的癌症,Fanconi 贫血途径 (FANC) 基因突变的这些数值指导要么不完整,要么数值较小(FANC 基因突变携带者即杂合子)。我们构建了一个包含四个基因的 FANC 缺失癌症面板,包括通过同源重组工程构建新的 PALB2/FANCN 缺失癌细胞。通过在小鼠中单剂量交联剂治疗中观察到 FANCC 缺失、FANCG 缺失、BRCA2/FANCD1 缺失和 PALB2/FANCN 缺失表型的特征性匹配,以及在体外对各种链间交联剂和γ辐射的化学超敏性的共同确认,证实了这一点。然而,一些化合物的敏感性差异很大;在 PALB2 缺失和 BRCA2 缺失细胞中,乙醇代谢物乙醛的敏感性极高(19-22 倍),与广泛的染色体断裂有关,而在不产生亲本细胞断裂的浓度下。由于 FANC 缺陷型癌细胞在化学敏感性方面可以共享或不同,因此选择性超敏反应的模式为该途径的进化理解提供了意义。通过对高敏度的扩展研究,可以修改针对癌症相关的 FANC 基因突变携带者的预防和管理的临床决策。