Review the following patient vignettes detailing specific clinical histories and gynecologic neoplasms. Pair each patient presentation with its most likely underlying germline genetic abnormality.
- A 42-year-old with a history of early-onset right-sided colon cancer who now presents with biopsy-proven endometrioid endometrial adenocarcinoma.DNA mismatch repair deficiency
- A 35-year-old with pigmented mucocutaneous macules on the buccal mucosa who presents with an ovarian sex cord tumor with annular tubules.STK11 (LKB1) gene mutation
- A 48-year-old with macrocephaly and multiple facial trichilemmomas who presents with heavy vaginal bleeding and complex atypical endometrial hyperplasia.PTEN gene mutation
- A 55-year-old with early satiety, ascites, and a pelvic mass, whose family history includes a first-degree relative with bilateral breast cancer diagnosed at age 41.Homologous recombination repair deficiency
Answer
The correct pairings accurately map each distinct clinical syndrome to its underlying germline genetic mutation based on classic phenotypic presentations and their associated gynecologic malignancies.
Each genetic syndrome presents with a specific constellation of gynecologic and non-gynecologic findings. Endometrial cancer with colon cancer points to mismatch repair deficiency (Lynch). Annular tubule sex cord tumors with pigmented macules point to STK11 (Peutz-Jeghers). Endometrial hyperplasia with trichilemmomas points to PTEN (Cowden). Ovarian cancer with familial breast cancer points to homologous recombination deficiency (BRCA).
Step-by-Step Solution
Key Concept
Genetic syndromes associated with gynecologic malignancies