Case history: An 11 year old girl was diagnosed with von Hippel-Lindau disease (VHL) on cascade genetic screening due to a positive family history and was enrolled in a VHL surveillance programme. She developed bilateral phaeochromocytomas and underwent staged bilateral adrenalectomies at the age of 12 and 14. At the age of 16, she was discovered to have a 2.5 cm tail of pancreas pancreatic neuroendocrine tumour (pNET) on routine surveillance imaging. This enlarged during follow up and additional smaller pNETs in the pancreatic body became visible. At the age of 19, she underwent a distal pancreatectomy and splenectomy. Her mother had a progressive metastatic pNET and there was considerable understandable family anxiety surrounding the diagnosis.
Results and treatment: Histology confirmed a 35 mm grade 2 pNET with a Ki67 index of 10%. Tumour was present at the resection margin with no evidence of lymph node metastases. A second 1 mm grade 1 pNET was also present and was completely excised. During post-operative imaging surveillance, three new pNETs developed within the tail, body and uncinate process which all grew on sequential examinations. She was asymptomatic and chromogranin A and fasting gut peptides were normal. All lesions were avid on Gallium DOTA-TATE imaging confirming somatostatin receptor expression. Given the rate of lesion growth, in combination with her family history of malignant disease, intervention was deemed necessary. However, given the lesion locations, there was a high risk of pancreatic insufficiency with further surgical resection and there were significant concerns about her ability to manage the resultant pancreatic insufficiency. She therefore underwent a trial of primary somatostatin analogue therapy which was well tolerated without adverse effects. After 6 months of treatment, reimaging demonstrated that all pNETs had significantly reduced in size and met RECIST criteria for partial response. This response has been maintained for over 18 months.
Conclusions and points for discussion: This case of a young woman with recurrent multifocal pNETs in the context of VHL provides an excellent opportunity to discuss:
pNET management within the context of predisposing germline mutations when the potential for multifocal and metachronous disease (including extra-pancreatic sites) complicates management decision making
the roles of somatostatin analogue therapy in pNETs.
16 - 18 Apr 2018
Society for Endocrinology