Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry.
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DOI：
10.1158/1078-0432.ccr-09-3058
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发表时间：
2010-04-01
期刊：
影响因子：
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通讯作者：
Young JP
中科院分区：
文献类型：
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作者：
Walsh MD;Buchanan DD;Cummings MC;Pearson SA;Arnold ST;Clendenning M;Walters R;McKeone DM;Spurdle AB;Hopper JL;Jenkins MA;Phillips KD;Suthers GK;George J;Goldblatt J;Muir A;Tucker K;Pelzer E;Gattas MR;Woodall S;Parry S;Macrae FA;Haile RW;Baron JA;Potter JD;Le Marchand L;Bapat B;Thibodeau SN;Lindor NM;McGuckin MA;Young JP
乳癌(BC)是否被认为是Lynch综合征的谱系肿瘤仍存在争议。这项研究的目的是探索林奇综合征家族中乳腺癌的特征。这项观察性研究涉及从结直肠癌家族登记中心(Colon CFR)发现的来自90个家庭的107例BC病例，其中1)乳腺癌和结肠癌同时发生，2)符合修改后的阿姆斯特丹标准，或至少有一例早发(<；50年)结直肠癌，3)生物样品库中的乳腺组织可用于错配修复(MMR)检测。参加冒号CFR的资格标准可在1号网上查阅。一位病理学家对乳腺癌进行了回顾。肿瘤切片进行MLH1、PMS2、MSH2和MSH6染色，并进行MSI检测。在35例突变携带者中发现BC，其中18例(51%)免疫组织化学显示与MMR基因突变分离相对应的MMR蛋白缺失。MMR缺陷的BC更有可能是低分化的(p=0.005)，高有丝分裂指数(p=0.002)，类固醇激素受体阴性(ER p=0.031；PR p=0.022)，瘤周淋巴细胞(p=0.015)，融合坏死(p=0.002)，以及实体片状生长(p<；0.001)。MMR缺陷组和正常组之间的发病年龄没有差异。在已知突变携带者中，51%的BC存在MMR缺陷。因此，在缺乏光谱肿瘤的情况下，BC可能是检测MMR缺乏症的有效组织选择。
The recognition of breast cancer (BC) as a spectrum tumor in Lynch syndrome remains controversial. The aim of this study was to explore features of breast cancers arising in Lynch syndrome families. This observational study involved 107 cases of BC identified from the Colorectal Cancer Family Registry (Colon CFR) from 90 families where 1) both breast and colon cancer co-occurred, 2) families met either modified Amsterdam criteria, or had at least one early onset (<50 years) colorectal cancer, and 3) breast tissue was available within the biospecimen repository for mismatch repair (MMR) testing. Eligibility criteria for enrolment in the Colon CFR are available online1. Breast cancers were reviewed by one pathologist. Tumor sections were stained for MLH1, PMS2, MSH2 and MSH6, and underwent MSI testing. BC arose in 35 mutation carriers and of these, 18 (51%) demonstrated immunohistochemical absence of MMR protein corresponding to the MMR gene mutation segregating in the family. MMR-deficient BCs were more likely to be poorly differentiated (p=0.005) with a high mitotic index (p=0.002), steroid hormone receptor negative (ER p=0.031; PR p=0.022), and to have peritumoral lymphocytes (p=0.015), confluent necrosis (p=0.002), and growth in solid sheets (p<0.001) similar to their colorectal counterparts. No difference in age of onset was noted between the MMR deficient and intact groups. MMR deficiency was identified in 51% of BC arising in known mutation carriers. BC therefore may represent a valid tissue option for the detection of MMR deficiency where spectrum tumors are lacking.