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Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis ( MCUL ) and hereditary leiomyomatosis and renal cell cancer ( HLRCC ) syndrome
Author(s) -
LlamasVelasco M.,
Requena L.,
Kutzner H.,
Schärer L.,
Rütten A.,
Hantschke M.,
Paredes B. E.,
Mentzel T.
Publication year - 2014
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.12396
Subject(s) - leiomyomatosis , immunohistochemistry , pathology , fumarase , medicine , staining , leiomyoma , biology , enzyme , biochemistry
Aims Multiple cutaneous and uterine leiomyomatosis ( MCUL ) also named as hereditary leiomyomatosis and renal cancer syndrome ( HLRCC ) is an autosomal dominant disorder caused by heterozygotic germline mutations in fumarate hydratase ( FH ) with incomplete penetrance and clinically challenging to diagnose. To test immunohistochemistry for FH as a potential marker for the detection of FH ‐deficiency. Methods and results We have tested 42 smooth muscle neoplasms, 13 lesions of patients with suspicious or confirmed HLRCC , 20 sporadic piloleiomyomas, two angioleiomyomas and 7 leiomyosarcomas. FH staining grades from 1 to 3. Ten of the 13 lesions from the patients with HLRCC syndrome showed negative FH staining. Most sporadic piloleiomyomas presented grade 3 FH staining although five cases presented grade 1 FH staining. Sensitivity of FH staining in our series is 83.3% but specificity is 75%. Conclusions This staining could indicate a high risk of HLRCC in most of the confirmed cases but it could also suggest the presence of a syndrome in up to 25% of sporadic cases. HLRCC syndrome should be rule out in FH negative piloleiomyomas after complete anamnesis if multiple lesions or positive familiar history is found.