Endocrine Abstracts

Neuroendocrine neoplasms (NENs) are rare but diverse group of malignancies that can arise from gastroenteropancreatic tract and lungs. NENs can be clinically symptomatic (functioning) or silent (non-functioning). We present a case found to have multiple NENs in the absence of known clinical syndrome and discuss role of genetic testing versus clinical screening. 54 Female, referred to endocrine team for investigation of hypoglycaemic symptoms and suspected insulinoma. Routine biochemistry and 0900 h cortisol was normal. 72 h fasting revealed severe hypoglycaemia (blood glucose of 2 mmol/l) with inappropriately normal insulin levels. No Past medical history or family history. No clinical features of VHL syndrome, Neurofibromatosis and Tuberous sclerosis. Other Fasting gut hormones, 24-hour urinary 5HIAA was all normal. CT scan of Abdomen Pelvis showed 1.3 cm arterial enhancing lesion in body of pancreas and a lesion in terminal ileum with mesenteric lymph nodes involvement. Colonoscopy showed Random terminal ileum biopsy showed inflammation only. Octreotide scan revealed positive uptake in ileocecal lesion and adjacent nodes. No uptake in pancreas. EUS showed 1.1 cm hypo echoic lesion in body of pancreas, 2 cm distal to confluence area. MEN 1 screen (Calcium, PTH, pituitary profile) and MEN 2 screen was negative. plasma metanephrine and normetanephrine were normal. After discussion in GIT MDT, Distal pancreatectomy and ileocecal resection for 2× NENs was done. Histopathology showed Well differentiated NEN terminal ileum Ki67 1%, G1, 9 out of18 lymph nodes involved. T4, N1 R0. And Well differentiated NEN pancreas, Grade 1, pT1 Nx R0. Histology revealed insulin positive staining in keeping with insulinoma, proliferation index Ki67 < 1%. Patient had uneventful surgery but developed post operative collection managed successfully with surgical drain and antibiotics. Patient had dietician and MDT input clinically improved and discharged with endocrine team follow-up.

Discussion: We are aware that rare genetic mutations can lead to multiple NENs include MEN 1, MEN 2, NF1, VHL, TSC1 and TSC2. Clinical screen for these syndromes should be done in such patients to help us decide surveillance and follow-up. Suspected patients should be tested for these genetic mutations. Although there are no guidelines or studies to suggest whether doing genetic testing, in the absence of negative clinical screen, would be of any additional benefit. We will discuss role of each in details. Further studies are needed to see if there are other genes that can play role in development of multiple NETs.