Abstract
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.
MeSH terms
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Adult
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Biomarkers, Tumor / analysis
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Carcinoma, Renal Cell / complications*
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Carcinoma, Renal Cell / diagnosis*
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Carcinoma, Renal Cell / pathology
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Cysteine / analogs & derivatives
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Cysteine / analysis
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Female
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Fumarate Hydratase / analysis
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Histocytochemistry
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Humans
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Immunohistochemistry
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India
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Kidney / pathology*
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Kidney Neoplasms / diagnosis*
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Kidney Neoplasms / pathology*
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Leiomyomatosis / complications*
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Leiomyomatosis / diagnosis*
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Leiomyomatosis / pathology
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Microscopy
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Neoplastic Syndromes, Hereditary
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Skin Neoplasms / complications*
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Skin Neoplasms / diagnosis*
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Skin Neoplasms / pathology
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Uterine Neoplasms / complications*
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Uterine Neoplasms / diagnosis*
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Uterine Neoplasms / pathology
Substances
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Biomarkers, Tumor
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S-(2-succinyl)cysteine
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Fumarate Hydratase
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Cysteine
Supplementary concepts
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Hereditary leiomyomatosis and renal cell cancer