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.
Large Mass In Right Shoulder
What is your most likely diagnosis of this mass?
- Liposarcoma
- Fibrosarcoma
- Sarcoma, NOS
- Osteosarcoma
Which gene would you most likely find mutated or deleted?
- P53
- WNT
- ERBB2
- None of the above
Click here for the comparative pathology.
Scroll below for answers.
Answer 1: c, Sarcoma, NOS.
Answer 2: 1, P53.
Click here to see the whole slide image.
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, 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.
Reference:
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.
Related Posts
Related posts:
- Slide of the Week Answers: Stomach Mass, September 19th, 2011
- Slide of the Week: Hereditary Multiple Exostosis, October 3rd, 2011
- Slide of the Week: Stomach Mass, September 19th, 2011
- Slide of the Week: Clear Cell Carcinoma, Kidney, May 3, 2011
- Slide of the Week: Carcinoid in the Lung, July 25th, 2011
Comments
Powered by Facebook Comments