Abstract | AIMS: 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.
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Authors | M Llamas-Velasco, L Requena, H Kutzner, L Schärer, A Rütten, M Hantschke, B E Paredes, T Mentzel |
Journal | Journal of cutaneous pathology
(J Cutan Pathol)
Vol. 41
Issue 11
Pg. 859-65
(Nov 2014)
ISSN: 1600-0560 [Electronic] United States |
PMID | 25292446
(Publication Type: Journal Article)
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Copyright | © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
Chemical References |
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Topics |
- Adult
- Aged
- Female
- Fumarate Hydratase
(analysis, deficiency)
- Humans
- Immunohistochemistry
(methods)
- Leiomyomatosis
(diagnosis)
- Male
- Metabolism, Inborn Errors
(diagnosis)
- Middle Aged
- Muscle Hypotonia
(diagnosis)
- Neoplastic Syndromes, Hereditary
- Psychomotor Disorders
(diagnosis)
- Sensitivity and Specificity
- Skin Neoplasms
(diagnosis)
- Uterine Neoplasms
(diagnosis)
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