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Flashcards in Lynch syndrome Deck (5)
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1

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

2

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

3

What cancers are associated with BRCA1/2 mutations?

Ovarian, breast

4

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

5

What cancers are associated with PTEN overexpression?

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