Document Detail

Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field.
MedLine Citation:
PMID:  23299928     Owner:  NLM     Status:  Publisher    
Muir-Torre syndrome is a variant of Lynch syndrome, characterised by sebaceous neoplasia and/or keratoacanthomas associated with visceral malignancies. Muir-Torre syndrome is caused by germline mutations of one of the mismatch repair genes, frequently MSH2 and less frequently MLH1 and MSH6. Visceral malignancies associated with Muir-Torre syndrome and Lynch syndrome include colorectal, endometrial and other gastrointestinal, urological and gynaecological malignancies. Small numbers of Lynch syndrome-associated soft tissue sarcomas have been reported, but there are no reported cases of soft tissue sarcomas in Muir-Torre syndrome. In this study, we report a 74-year-old man with known Muir-Torre syndrome with confirmed MSH2 germline mutation, diagnosed with pleomorphic liposarcoma of the right buttock in a previous radiation field. The tumour showed loss of expression of MSH2 and MSH6 on immunohistochemistry. Immunohistochemistry on another pleomorphic liposarcoma in a different patient with no previous history of Muir-Torre syndrome or Lynch syndrome showed no loss of expression of mismatch repair proteins. This is the first report of Muir-Torre syndrome-associated sarcoma and the first case of post-radiation sarcoma in Lynch syndrome.
Masato Yozu; Pennie Symmans; Michael Dray; Jennifer Griffin; Catherine Han; Daniel Ng; Susan Parry; Kp Wong
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-9
Journal Detail:
Title:  Virchows Archiv : an international journal of pathology     Volume:  -     ISSN:  1432-2307     ISO Abbreviation:  Virchows Arch.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9423843     Medline TA:  Virchows Arch     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Histopathology Department, Middlemore Hospital, Hospital Road, Otahuhu, Auckland, New Zealand,
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