Answer 1: C. Sarcoma, NOS.
Answer 2:A. p53.
A 17-year-old female carries a diagnosis of Li-Fraumeni syndrome (a rare autosomal dominant syndrome) and presents with a large mass in the right shoulder.Comment: The Li-Fraumeni syndrome involves a germ line mutation of the classical tumor suppressor gene p53. In contrast to the other classical tumor suppressor, RB1, which is associated with a very specific tumor, Li-Fraumeni syndrome produces tumors of almost every organ system with a predominance of sarcomas of various types. To understand the significance of heterogeneous tumors with p53, one must turn to genetically engineered mice.
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Reference:
1. Gunther EJ, Moody SE, Belka GK, et al. Impact of p53 loss on reversal and recurrence of conditional Wnt-induced tumorigenesis. Genes Dev. 2003;17:488–501.
