Hereditary leiomyomatous and renal cell carcinoma syndrome, HLRCC

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.

Radiology

The renal tumours are usually unilateral.

Macroscopic appearances

Tumours are locally invasive.

Histopathology

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.

Immunohistochemistry

 

UEA-1

1/8

 

CK7

0/8

CK20

0/8

34bE12

0/7

CD10

2/7

p16

1/7

Mucicarmine

2/10

   

Differential diagnosis

Prognosis

Metastases occur to regional and distant lymph nodes.

References

1 Merino MJ, Torres-Cabala C, Pinto P, et al. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 2007; 31:1578-85

 

This page last revised 19.2.2008

©SMUHT/PW Bishop