Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
BACKGROUND
A 17-year-old male presented with cervical adenopathy and a palpable left flank mass. After an initial biopsy of the neck mass, which revealed metastatic carcinoma, a left radical nephrectomy was performed as well as excision of a left supraclavicular lymph node. Subsequent inquiry revealed that the patient's father had died of metastatic renal cell carcinoma (RCC) at the age of 40 years, and that other family members had also developed skin and uterine leiomyomas.


METHODS
Physical examination, CT scans of the chest, abdomen, and pelvis, lymph-node biopsy and genetic counseling, followed by genetic testing.


METHODS
Papillary type 2 RCC described in the context of hereditary leiomyomatosis and renal cell cancer (HLRCC), an autosomal dominant syndrome attributable to a mutation in the fumarate hydratase (FH) gene on chromosome 1.


RESULTS
Radical nephrectomy, immunotherapy, chemotherapy and repeat surgical debulking. Genetic counseling and testing for family members was also undertaken. Annual skin examination of the carriers and radiological evaluation of both kidneys with CT scan and/or MRI.
Refae
Munir Al
MA
McGill University, 3755 Cote Ste Catherine Road, Montreal, QC H3T 1E2, Canada.
Wong
Nora
N
Patenaude
François
F
Bégin
Louis R
LR
Foulkes
William D
WD
D000293:Adolescent; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D003131:Combined Modality Therapy; D005649:Fumarate Hydratase / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018231:Leiomyomatosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D009154:Mutation
D005649:Fumarate Hydratase