Case series: tuberous sclerosis associated pancreatic neuroendocrine tumours at a tertiary centre

Aviva Frydman; Raj Srirajaskanthan

doi:10.1530/endoabs.105.P28

Background: Tuberous sclerosis (TSC) is an autosomal dominant condition which can increase the risk of pancreatic neuroendocrine tumours (pNETs) (1). Patients with TSC undergo screening for renal tumours which may include pancreatic imaging (2). There are no screening guidelines for pNETs in patients with TSC.

Case presentations: We reviewed four female patients who had TSC and pNET (table 1). The mean age at pNET diagnosis was 39.5 years. TSC was diagnosed after the pNET in two patients. Three patients had tumours ≤2 cm, one tumour was >10 cm. Tumours were low grade. Two patients had surgical resection, one under surveillance and one treated with somatostatin analogues (SSA). One patient who underwent resection had recurrence 17 years later. Follow-up ranged from 6 months to 22 years. There was no metastatic disease after average follow-up of 6.8 years.

Discussion: In our series all patients had low grade, well-differentiated NETs with no metastases which is consistent with the literature demonstrating a more indolent disease course (2). One patient who had been discharged had a late recurrence after 17 years suggesting that long-term surveillance may be warranted. Further research is required to determine optimal management for this group.

Table 1
	Case 1	Case 2	Case 3	Case 4
Gender	F	F	F	F
TSC diagnosed before pNET?	Yes	Yes	No	No
Age at pNET diagnosis	37	34	53	34
Tumour size (mm)	18 x 12	12 x 11	110	20
Tumour location	Body	Body	Tail	Tail
Resection	No	No	Distal pancreatectomy	Distal pancreatectomy
Medical management	SSA	No	No	No
Grade	G1	G1	G2	N/A
CgA level (<60 pmol/L)	19	24	73	19
Metastases	No	No	No	No
Progression or recurrence	No	No	No	Yes
Follow-up	4 years	6 months	12 months	22 years

References
1. Mowrey K, et al. Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports. Front Neurol. 2021;12:627672.

2. Arya S, et al. Long-Term Outcomes of Tuberous Sclerosis Complex-Associated Non-functional Pancreatic Neuroendocrine Tumors: Should We Be More Conservative? Ann Surg Oncol. 2023;30(12):7748-55.

Endocrine Abstracts

P28