Pathology · Neoplasia (Classification, Carcinogenesis, Tumor Markers, Paraneoplastic)

A pathology report describes a tumor showing 'loss of heterozygosity at 17p13.1'. This finding implicates loss of function of which tumor suppressor?

  • A TP53
  • B RB1
  • C VHL
  • D APC
Correct answer: A. TP53

Explanation

TP53, the guardian of the genome, maps to chromosome 17p13.1. Loss of heterozygosity (LOH) at this locus combined with a point mutation in the other allele leads to complete p53 inactivation per Knudson's two-hit hypothesis. RB1 is at 13q14, VHL at 3p25, and APC at 5q21. Identifying LOH at 17p13.1 is a key finding in colorectal cancer progression (Vogelstein model, adenoma-carcinoma sequence).

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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