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Myotonic dystrophy associated with insulinoma.
1Department of Neurology, National Sanatorium Hyogo Chuo Hospital, Sanda.
Internal Medicine (Tokyo, Japan)
|July 20, 1999
Summary
This study reports a rare case of insulinoma in a patient with myotonic dystrophy. The pancreatic tumor exhibited the most significant CTG repeat expansion, indicating microsatellite instability in tumor cells.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Myotonic dystrophy (MyD) is a multisystem disorder.
- Insulinomas are rare pancreatic neuroendocrine tumors causing hypoglycemia.
Observation:
- A 51-year-old male with MyD presented with postprandial hypoglycemia.
- Imaging and selective blood sampling localized an insulinoma to the pancreatic head.
Findings:
- Surgical resection confirmed the insulinoma.
- Southern blot analysis revealed the longest CTG repeat expansion in the myotonin protein kinase gene within the tumor tissue compared to normal tissues.
- Microsatellite instability was most pronounced in the insulinoma cells.
Implications:
- This case highlights a potential association between myotonic dystrophy and insulinoma.
- The findings suggest that microsatellite instability may play a role in the development of insulinomas in the context of MyD.