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 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.
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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Acknowledgements
We would like to thank David Mitchell, MD, for his help in reviewing the case files, Morag Park, PhD, who performed the MET gene sequencing and Catherine Stolle, PhD, at Children's Hospital of Philadelphia, who did the FH gene sequencing.
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Refae, M., Wong, N., Patenaude, F. et al. Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Rev Clin Oncol 4, 256–261 (2007). https://doi.org/10.1038/ncponc0773
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DOI: https://doi.org/10.1038/ncponc0773
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