Article
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
The American Journal of dermatopathology - 1 Dec 2016
Llamas-Velasco Mar, Requena Luis, Adam Julie, Frizzell Norma, Hartmann Arndt, Mentzel Thomas
Abstract excerpt
AIMS: Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is an autosomal dominant disorder caused by heterozygotic germline mutations in fumarate hydratase (FH) with incomplete penetrance, and clinically challenging to diagnose. Immunohistochemical stainings may favor an earlier diagnosis. METHODS AND RESULTS: The authors have tested 31 smooth muscle neoplasms. Ten of the 13 lesions from patients...
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