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Microsatellite Instability-High, Malignant Insulinoma With Brain Metastasis
Jason Starr1, Guillermo Puebla2, Jessica McMillan3
1Hematology/Oncology, Mayo Clinic, Jacksonville, USA.
Cureus
|September 16, 2021
Summary
Malignant insulinomas, though rare, can spread to distant organs. This case highlights genetic factors like mismatch repair deficiency and tumor heterogeneity in advanced pancreatic neuroendocrine tumors.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Insulinomas are common functional pancreatic neuroendocrine tumors.
- While typically benign, 10% exhibit malignant or invasive behavior.
- Mechanisms driving malignant transformation remain unclear.
Observation:
- A patient presented with stage 4 malignant insulinoma.
- Metastases were found in the liver, bone, and brain.
- Tumor genetic analysis revealed mismatch-repair deficiency and high microsatellite instability.
Findings:
- Loss of MLH1 and PMS2 protein expression was observed.
- MLH1 and MEN1 variants were identified.
- Significant tumor heterogeneity was noted between liver (well-differentiated) and brain (poorly-differentiated) metastases.
Implications:
- This case provides insights into the molecular underpinnings of malignant insulinoma.
- Understanding tumor heterogeneity is crucial for managing advanced metastatic disease.
- Further research into genetic drivers may reveal therapeutic targets for aggressive pancreatic neuroendocrine tumors.
