Definition
HLRCC is a rare hereditary cancer syndrome comprising leiomyo(sarco)mas of skin and uterus and renal cell carcinomas. The inheritance is autosomal dominant with partial penetrance. Germline mutation of the fumarate hydratase gene at 1q42.3-q43 is demonstrable.
The renal tumours are usually unilateral.
Tumours are locally invasive.
The tumour architecture is papillary in most cases but may be tubulopapillary, tubular or solid. Papillae are thick, lined by large epithelium with abundant cytoplasm. Clear cells foci may be present. Characteristically and uniquely, there are large nuclei with highly prominent eosinophilic nucleoli surrounded by a pale halo, resembling CMV inclusions.
0/8 |
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0/8 |
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0/7 |
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p16 |
1/7 |
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Mucicarmine |
2/10 |
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Collecting duct carcinoma: there is desmoplasia; tumours are positive for UEA-1 and for mucin.
Clear cell carcinoma: positive for CD10.
Oncocytoma: cytologically benign, lack nucleoli. There is no necrosis or mitotic activity.
Renal tumours of Birt-Dube-Hogg syndrome: are chromophobe, positive for CD117.
Metastases occur to regional and distant lymph nodes.
This page last revised 19.2.2008
©SMUHT/PW Bishop