title: Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma.
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.
authors.affiliation: Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India.
authors.forename: Shraddha
authors.initials: S
authors.lastname: Adamane
authors.affiliation: Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India.
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Desai
authors.affiliation: Department of Pathology, Tata Memorial Hospital, Parel, Mumbai, Maharashtra, India.
authors.forename: Santosh
authors.initials: S
authors.lastname: Menon
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D002292:Carcinoma, Renal Cell / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D003545:Cysteine / Q000031:analogs & derivatives / Q000032:analysis; D005260:Female; D005649:Fumarate Hydratase / Q000032:analysis; D006651:Histocytochemistry; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D007668:Kidney / Q000473:pathology*; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000473:pathology*; D018231:Leiomyomatosis / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D008853:Microscopy; D009386:Neoplastic Syndromes, Hereditary; D012878:Skin Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D014594:Uterine Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor; C511650:S-(2-succinyl)cysteine; D005649:Fumarate Hydratase; D003545:Cysteine