A 17 YO female carries a diagnosis of Li-Fraumeni syndrome (a rare autosomal dominant syndrome) and presents with a large mass in the right shoulder. The mass is excised.
What is your most likely diagnosis of this mass?
- Sarcoma, NOS
Which gene would you most likely find mutated or deleted?
- None of the above
Scroll below for answers.
Answer 1: c, Sarcoma, NOS.
Answer 2: 1, P53.
The Li-Fraumeni syndrome involves a germ line mutation of the classical tumor suppressor gene p53. In contrast to the other classical tumor suppressor, Retinoblastoma which is associated with a very specific tumor, the Li-Fraumeni syndrome produces tumors 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.
Gunther, E. J., S. E. Moody, et al. (2003). “Impact of p53 loss on reversal and recurrence of conditional Wnt-induced tumorigenesis.” Genes Dev 17(4): 488-501.
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