Surgical Pathology Criteria

Hereditary / Familal Renal Cell Carcinoma

Definition

Diagnostic Criteria

Syndrome Genetic Abnormality Extra-renal Renal Carcinoma
von Hippel Lindau

VHL
3p25
dominant

Retinal and CNS hemangioblastomas, pancreatic and other cystadenomas, pheochromocytomas Multiple clear cell carcinomas
Birt Hogg Dubé FLEN
17p11.2
dominant
Cutaneous fibrofolliculomas, trichodiscomas, skin tags, lung cysts & pneumothorax Multiple hybrid chromophobe-oncocytomas
Hereditaary leiomyomatosis and renal cell carcinoma FH
1q42-43
dominant
Cutaneous and uterine leiomyomas, rare kindreds with uterine leiomyosarcoma Aggressive papillary RCC
Hereditary papillary RCC MET
7q31
dominant
None Multiple type 1 papillary RCC
Constitutional chromosome 3 translocation

Various
dominant

None Multiple clear cell RCC
Succinate dehydrogenase B SDHB
1p36
may be recessive
Pheochromocytomas, head & neck paragangliomas Bubbly pale to clear cytoplasm

 


Robert V Rouse MD
Department of Pathology
Stanford University School of Medicine
Stanford CA 94305-5342

Original posting/updates:: 2/24/11, 11/11/11

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