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Rare Case of Renal Cell Carcinoma in Patient With Tuberous Sclerosis Complex

By: Vanessa A. Carter, BS
Posted: Tuesday, January 26, 2021

Yusheng Chen, MD, of Fujian Provincial Hospital, Fuzhou, People’s Republic of China, and colleagues reported a case study of a 40-year-old woman with tuberous sclerosis complex (TSC) who was diagnosed with renal cell carcinoma and lymphangioleiomyomatosis. Although this clinical scenario is rare, the authors recommended renal imaging follow-up annually for kidney masses in patients with TSC. This report was published in OncoTargets and Therapy.

The patient was originally diagnosed with angiomyolipoma in the kidney 11 years ago. She had no familial history of TSC. Upon admission, the woman’s vital signs were stable, and her oxygen saturation was 96%. Although she had no skin lesions or pneumothorax, she had a persistent dry cough. The results of all routine laboratory tests were normal.

The patient had VEGF-D, tested positive for antinuclear antibodies, and tested negative for antineutrophil cytoplasmic antibodies. Multiple thin-walled cysts were found within the lungs, which were consistent with lymphangioleiomyomatosis. A lesion was discovered in the lower pole of the right kidney. Immunohistochemical and hematoxylin and eosin staining determined the lesion to be renal cell carcinoma rather than angiomyolipoma. The patient likely had a pathogenic, heterozygous mutation in the TSC2 gene, which was also found in her mother, son, and daughter.

Initial pulmonary function tests showed a forced vital capacity (FVC) of 2.61 L and a forced expiratory volume in 1 second (FEV1) of 1.55 L; an FEV1/FVC ratio was 59.4%. After surgery, the patient was administered 1 mg/day of oral rapamycin and underwent pulmonary function testing soon after that. An improved FEV1/FVC ratio of 66.31% was reported. At the time of publication, the patient had no tumor recurrence and no longer experienced shortness of breath or dry cough.

Disclosure: The study authors reported no conflicts of interest.



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