2017-04-12 20:54:03 UTC

Young Onset Breast and Colon Cancer

April 12, 2017

Review the latest Gastroenterology image challenge and try to determine the patient's diagnosis.

Gastroenterology Clinical Image Challenge: A 37-year-old G2P1 woman was diagnosed with ER+, PR+, Her-2 negative invasive ductal carcinoma without metastasis at 35 weeks’ gestation and after labor induction underwent neoadjuvant chemotherapy with bilateral mastectomy. BRCA1/2 testing was negative.

One and one-half years later, she developed left-sided pelvic discomfort and hematochezia, with colonoscopy revealing an ulcerated sigmoid mass (Figure A). She underwent sigmoid colectomy which showed a T3N0, low-grade adenocarcinoma (Figure B). Microsatellite instability testing was high with immunohistochemistry showing loss of MLH1 and PMS2 (Figure C, upper left MLH1; lower right, PMS2 negative; upper right, MSH2; lower left, MSH6 positive). Subsequently, BRAF V600E mutation was negative; however, there was constitutional hypermethylation of the MLH1 promoter. Given her history of breast cancer, immunohistochemistry was performed on the breast specimen that also showed loss of MLH1/PMS2. Blood testing concordantly showed MLH1 hypermethylation with deletion/duplication analysis being negative for mutations.

Her family history was remarkable only for colon cancer in one second- and third-degree relatives, both diagnosed at >65 years old. Although her father was diagnosed with prostate cancer at age 65 years, there were no known early cancers diagnosed before age 50, or evidence of endometrial, small bowel, pancreatic, or urinary tract cancers.

What is the diagnosis?

To find out, read the full case on the Gastroenterology website, or download our Clinical Image Challenge app through AGA App Central, which features new cases each week. Sort and filter by organ, most popular or favorites. AGA App Central is available in both the Apple App Store and Google Play

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