Endocrine Abstracts

vHL disease is commonly inherited in an autosomal dominant fashion. Pancreatic lesions in vHL are generally asymptomatic or associated with mild nonspecific symptoms.

Case history: A 40 year old Asian female was seen in genetic/endocrine clinic for Predictive vHL mutation. She was married to her first cousin and had a 19 years old daughter. Her sister was diagnosed with vHL in Canada. She presented with Renal cell carcinoma and renal cysts. Her mother died at the age of 57 due to kidney problems in Pakistan. Patients’ genetic test showed mutation in vHL gene. Her abdominal USS showed multiple cysts of different sizes throughout the pancreas. MRI pancreas showed numerous simple cysts with no contrast enhancement. Findings were suggestive of multiple cystadenomas. Her 19 years old daughter was also vHL mutation positive. Her USS showed multiple cysts in pancreas and a 1.5 cm solid mass in the head of pancreas. MRI scan showed a well defined heterogenous 2.6 cm mass in the head of pancreas suggestive of neuroendocrine tumour (NET) and rest of the cysts were cystadenomas. FDG PET scan of the same lesion showed 3 cm increased uptake suggestive of a NET. She had surgical resection. There are a number of different pancreatic pathologies associated with vHL disease. True cysts are the most common and are multiple. Serous Cystadenoma (SCAs) are well-delineated usually multiloculated lesions. NETs are typically nonfunctional, multiple, and located throughout the pancreas. Lesions are usually hypervascular. These may behave malignant may present with metastases. Metastatic Renal Cell Carcinoma and Pancreatic adenocarcinomas are rare findings in vHL.

Recommended follow-up for suspected NETs in vHL by Libutti et al.: ≤1 cm Follow up every 12 months with CT or MRI

1–3 cm Case-by-case assessment

>3 cm If symptomatic or functional or increasing size offered resection

Treatment recommendations for NETS in vHL

Prognostic criteria:

Ø Tumor size ≥ 3 cm

Ø Mutation in exon 3

Ø Tumor doubling time ≤ 500 d

None of the criteria

Ø Followed by CT/MRI every 2–3 yr

1 criterion: Followed by CT/MRI every 6–12 months

2 or 3 criteria: Consider surgical intervention

Treatment strategy in patients with the metastatic disease is still controversial.

Conclusion: Pancreatic lesions in vHL are common (60%). Asymptomatic lesions can often be identified prior to the development of other manifestations of the disease. Incidence of simple cysts 47%, SCAs 11% and NETs 15%. NETs may undergo malignant transformation. Patients with small NETs should be followed up and larger lesions should be resected.