Somatostatinoma: Beyond neurofibromatosis type 1 (Review)

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Somatostatinoma is a rare neuroendocrine tumor originating from the pancreas or duodenum, with an incidence of 1 in 40 million.
• Clinical presentations vary, including diabetes mellitus, cholelithiasis, steatorrhea, abdominal pain, and obstructive jaundice.

Purpose of the Study:

• To conduct a narrative review of somatostatinoma literature.
• To explore the relationship between somatostatinoma and neurofibromatosis type 1 (NF1).

Main Methods:

• Literature review of somatostatinoma.
• Analysis of genetic associations, including NF1 and Pacak-Zhuang syndrome.
• Review of surgical approaches and prognostic factors.

Main Results:

• Somatostatinoma can be sporadic or associated with genetic syndromes like NF1 (involving the RAS/MAPK pathway) or Pacak-Zhuang syndrome (EPAS1 gene).
• Duodenal somatostatinoma is linked to NF1, though gastrointestinal stromal tumors (GISTs) are more common in NF1 patients.
• Prognosis is dependent on tumor location, grade (WHO 2017 classification), and feasibility of radical surgery.

Conclusions:

• Somatostatinoma, particularly duodenal, can occur in patients with NF1, often alongside other tumors.
• Early and radical surgical resection is crucial for improving the prognosis of this challenging neuroendocrine tumor.