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Flashcards in Lynch syndrome Deck (5)
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A 45-year-old woman is diagnosed with grade 2 endometrioid adenocarcinoma of the endome- trium, and she undergoes hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy. She has a family history that includes cancer of the breast, lung, and colon in first-degree relatives. The test that will best inform her of her risk of future cancer is immunohistochemical staining of tumor tissue for:

(A) MLH1, MSH2 overexpression
(B) BRCA1 mutation
(C) progesterone receptor
(D) TP53 mutation
(E) PTEN mutation

(A) MLH1, MSH2 overexpression


What is Lynch syndrome and what cancers can it cause?

Also known as hereditary nonpolyposis colorectal cancer (HNPCC) syndrome - auto dominant mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Increased risk of endometrial, ovarian, gastric tract, small bowel cancers


What cancers are associated with BRCA1/2 mutations?

Ovarian, breast


What cancers are associated with TP53 mutations?

Sometimes in high grade endometrial cancer

Germline TP53 mutations = Li Fraumeni syndrome: higher risk of soft tissue sarcomas, leukemia, adrenocortical, breast, brain cancers


What cancers are associated with PTEN overexpression?

Cowden disease: AD - breast, thyroid, endometrial cancers and benign mucocutaneous lesions