Try it
Pathology · Neoplasia
Sample itemA teenager has hundreds of colonic polyps and a cerebellar medulloblastoma. A germline APC mutation is found. What is the syndrome?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Turcot syndrome
Turcot syndrome combines colorectal polyposis with a primary brain tumour. The APC-related form is linked to medulloblastoma and the mismatch repair form to glioblastoma.
Option by option
A. Gardner syndrome
Gardner syndrome has osteomas and desmoids rather than a brain tumour.
B. Li-Fraumeni syndrome
Li-Fraumeni syndrome is a p53 defect with sarcomas, breast cancer and brain tumours, but not polyposis.
C. Turcot syndrome (correct)
Correct. Polyposis with a central nervous system tumour is Turcot syndrome.
D. Cowden syndrome
Cowden syndrome is a PTEN hamartoma syndrome with breast and thyroid cancer.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More Pathology questions
- NeoplasiaA child has bilateral retinoblastoma and the father had a childhood eye tumour. Which me…
- NeoplasiaA 62-year-old woman with weight loss and early satiety has a firm 2 cm nodule at the umb…
- NeoplasiaA 52-year-old man with weight loss has abrupt onset of velvety, hyperpigmented skin thic…
- NeoplasiaA woman has macrocephaly, facial trichilemmomas, multiple hamartomatous gastrointestinal…