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MEN 2B CASES WITH ATYPICAL PRESENTATION, UNUSUAL CLINICAL COURSE AND A LITERATURE REVIEW
Ç Keskin1, A G Canpolat1, Ş Canlar1
1Ankara University School of Medicine, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey.
Multiple endocrine neoplasia type 2B (MEN 2B) presents with varied clinical courses, even with de novo mutations. Early diagnosis and effective treatment are crucial for improving prognosis in MEN 2B patients.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia type 2B (MEN 2B) is a rare hereditary syndrome.
- It is primarily caused by the Met918Thr germline RET mutation.
- MEN 2B is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), and distinct phenotypic features, with variable clinical presentations.
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