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See Latest ArticlesNovel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms
Human Pathology, 09/16/09
Gatalica Z et al. – Multiple renal tumors of diverse morphology are rare and typically seen in Birt–Hogg–Dubé syndrome. The authors describe here a 64–year–old man with a novel germline mutation in the FLCN gene who presented with 3 phenotypically distinct renal tumors in the same kidney, which were histologically classified as oncocytoma (1.4 cm), oncocytic papillary carcinoma (0.5 cm), and clear cell renal carcinoma (0.8 cm). Chromosomal analysis of peripheral blood lymphocytes showed low level chromosome instability, not previously associated with germline mutations in the FLCN gene.
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