Akoum Riad, Ghaoui Albert, Brihi Emile, Ghabash Maroun, Hajjar Nicolas
Department of Oncology, Rizk Hospital, Beirut, Lebanon.
Hered Cancer Clin Pract. 2009 May 28;7(1):10. doi: 10.1186/1897-4287-7-10.
There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome.
A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996.
A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens. The microsatellite analysis of the tumor showed an unstable pattern for markers BAT25 and BAT26. The immunohistochemical staining was negative for MSH2 and MSH6 and normal for MLH1 and PMS6 enzymes.
The segregation of the mutation with the disease phenotype and these results suggest that MSH2 inactivation may be involved in the accelerated breast carcinogenesis and might be considered in the cancer screening program.
乳腺癌作为林奇综合征疾病谱的一部分，其纳入仍存在争议。
自1996年起对一个因MSH2基因第3内含子剪接供体位点的点突变而患有林奇综合征的黎巴嫩家系进行定期随访。
一名26岁的孕妇，为突变携带者，患侵袭性乳腺癌，对标准化疗方案耐药。肿瘤的微卫星分析显示标记物BAT25和BAT26呈不稳定模式。免疫组化染色显示MSH2和MSH6为阴性，MLH1和PMS6酶正常。
突变与疾病表型的分离以及这些结果表明，MSH2失活可能参与加速乳腺癌发生，在癌症筛查项目中可能应予以考虑。
