Indian Journal of Pathology and Microbiology
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CASE REPORT
Year : 2017  |  Volume : 60  |  Issue : 1  |  Page : 108-110

Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma


Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India

Correspondence Address:
Santosh Menon
Department of Pathology, 8th Floor, Annexe Building, Tata Memorial Hospital, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.200025

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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently described entity with unknown exact prevalence. The affected individuals are predisposed to have multiple leiomyomas and renal cancer due to germline mutation in fumarate hydratase gene on chromosome 1. The knowledge of this rare tumour is essential for early recognition and institution of appropriate therapy, since they have a grave prognosis. Herein, we present the first case from India of HLRCC in a 42 year old lady who presented with a renal mass and metastasis with consequent fulminant course of disease. We discuss the detailed histomorphologic features and iunique immunohistochemical signature of this unusual renal tumour with discussion of differential diagnosis.


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