Endocrine Abstracts

Introduction: Phaeochromocytoma affects <1:100000 people per year. Wilms tumour (WT) affects almost 1:10000 children each year. Both tumours are associated with somatic genetic alterations: Phaeochromocytoma (RET, VHL, NF1, SDHA, SDHAF2, SDHB, SDHC, SDCD, TMEM127 and MAX); WT (WT1, 11p13, 11p15, tp53, NSD1, KDM3B, BRCA2). Both tumours affecting the same person have only been reported twice in the literature.

Case Report: We report a lady who, at the age of 5 years, was diagnosed with left-sided WT and underwent left nephrectomy. At the age of 50, she complained of anxiety, palpitations and raised blood pressure despite taking anti-hypertensives. Plasma and urine metanephrines were raised and MRI scan showed 4.5x4.6x2.4 cm nodule in the left adrenal gland, ipsilateral to the previously diagnosed WT. Whole body MIBG scan showed increased uptake in the left adrenal mass consistent with phaeochromocytoma with no other uptake elsewhere. She responded well to alpha and beta blockade and has been listed for left adrenalectomy. The patient’s grandmother had a renal cancer removed at the age of 30. There is no other family history of malignancies. Due to the occurrence of 2 primary malignancies, including phaeochromocytoma, and family history of a renal tumour, this patient has been referred for genetic screening.

Discussion: The diagnosis of phaeochromocytoma and WT in the same patient has only been described twice before, in one adult and one child, however neither had genetic analysis. Mutations predisposing to both WT and phaeochromocytoma are unknown and our case may help find a common mutation. All patients with phaeochromocytoma in our practice are referred for genetic screening but in addition, the presence of multiple primary malignancies should also trigger referral for genetic analysis. Detection of somatic genetic alterations associated with malignant diseases can play a vital role in the screening and early management of those life-changing conditions.