Slide of the Week: Li-Fraumeni Syndrome, October 17th, 2011

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?

  1. Liposarcoma
  2. Fibrosarcoma
  3. Sarcoma, NOS
  4. Osteosarcoma

 

Which gene would you most likely find mutated or deleted?

  1. P53
  2. WNT
  3. ERBB2
  4. 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.

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