E BONGETTI2, R RAJ1, D COOKE1, M MATHEW1
1Launceston General Hospital, Launceston, Australia, 2Monash Medical Centre, Clayton, Australia
Background: Birt-Hogg-Dubé Syndrome (BHDS) is a rare hereditary cancer syndrome which predisposes to renal cancer, pulmonary cysts and cutaneous fibromas. This case provides a novel account of an unexpected malignancy in a rare disease.
Case Report: A forty-five-year-old woman was detected to have bilateral renal masses on computed tomography (2 cm in diameter left and 3.6 cm in diameter right) when being investigated for abdominal pain. She underwent bilateral nephrectomies which revealed a chromophobe renal cell carcinoma, an oncocytic tumour and a hybrid oncocytic/chromophobe tumour. Following the surgery, the patient suffered irretrievable kidney injury and commenced on long-term haemodialysis thrice weekly. Genetic testing using multiplex ligation-dependent probe amplification revealed a deletion in major functional parts of folliculin gene in exon 14, and diagnosis of BHDS was made. The patient was subsequently considered for renal transplantation and was noted to have a thyroid nodule. Fine needle aspiration demonstrated highly atypical epithelial proliferation. She had a total thyroidectomy and left neck dissection to remove a 60mm, poorly differentiated follicular thyroid carcinoma. Six months following her surgery, the patient reported severe back pain. Magnetic resonance imaging confirmed metastases to the spine and lungs. Biopsy of a lung lesion confirmed metastatic follicular thyroid carcinoma. The patient received palliative lenvatinib and survived for 15 months whilst still receiving haemodialysis. She subsequently died from complications of her metastatic disease.
Conclusion: This case illustrates challenges in managing a patient with severe phenotypic presentation of BHDS. Whilst no causal association can be drawn on the basis of this case between thyroid cancer and BHDS, the case does support the notion that aggressive treatment of thyroid cancer in this patient group may be considered.
Elisa Bongetti is a second year nephrology advanced trainee currently working at Monash Medical Centre in Melbourne.