Abstract | 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. INVESTIGATIONS: Physical examination, CT scans of the chest, abdomen, and pelvis, lymph-node biopsy and genetic counseling, followed by genetic testing. DIAGNOSIS: MANAGEMENT: 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.
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Authors | Munir Al Refae, Nora Wong, François Patenaude, Louis R Bégin, William D Foulkes |
Journal | Nature clinical practice. Oncology
(Nat Clin Pract Oncol)
Vol. 4
Issue 4
Pg. 256-61
(Apr 2007)
ISSN: 1743-4262 [Electronic] England |
PMID | 17392716
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adolescent
- Carcinoma, Renal Cell
(genetics, pathology, therapy)
- Combined Modality Therapy
- Fumarate Hydratase
(genetics)
- Humans
- Kidney Neoplasms
(genetics, pathology, therapy)
- Leiomyomatosis
(genetics, pathology, therapy)
- Male
- Mutation
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