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Dermatology · Skin tumours: hereditary leiomyomatosis and renal cell cancer
Sample itemA woman with multiple painful grouped red-brown cutaneous papules (leiomyomas) also has early-onset uterine fibroids. Which screening is most important?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Periodic renal imaging for renal cell carcinoma
Multiple cutaneous leiomyomas with uterine fibroids suggest hereditary leiomyomatosis and renal cell cancer from fumarate hydratase mutation. Affected people have an increased risk of aggressive renal cell carcinoma, so periodic renal imaging is advised.
Option by option
A. Colonoscopy for polyposis
Colonoscopy is advised in syndromes such as Peutz-Jeghers or Muir-Torre, not in this one.
B. Thyroid ultrasound for medullary carcinoma
Thyroid ultrasound is advised in conditions such as Cowden syndrome or MEN 2, not in this one.
C. Brain MRI for glioma
Brain MRI is advised in conditions such as neurofibromatosis type 2, not in this one.
D. Periodic renal imaging for renal cell carcinoma (correct)
Correct. Fumarate hydratase mutation carries a high risk of renal cell carcinoma.
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.
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