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Skin rash, a kidney mass and a family mystery dating back to World War II

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This case of hereditary leiomyomatosis and renal cell cancer in a young man illustrates the importance of considering a hereditary basis for renal cancer in a young patient, and highlights how targeted therapy underpins modern personalised medicine in renal oncology.

Clinical record

A 25-year-old white man presented with a year-long history of malaise, a palpable right loin mass and a painless nodular rash over his back of indeterminate duration. Computed tomography (CT) showed a right renal mass with para-aortic and retroperitoneal lymphadenopathy. The patient underwent radical nephrectomy and para-aortic lymphadenectomy.

Examination of the kidney showed a 14 cm tumour centred in the renal medulla (Box, A). The tumour cells were organised in papillary fronds and featured abundant eosinophilic cytoplasm, large nuclei and prominent inclusion-like eosinophilic nucleoli (Box, B). There was widespread vascular space invasion and involvement of the renal sinus fat and hilar vein. All four para-aortic lymph nodes contained metastatic disease.

The patient’s longstanding skin rash (Box, C) was reviewed and confirmed on biopsy to represent multiple cutaneous leiomyomata.1 The patient’s mother was found to have had multiple cutaneous and uterine leiomyomata. The death certificate…