Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis
Min Jung Lee1, Ki Hun Chung, Joon Soo Park
1Department of Dermatology, College of Medicine, The Catholic University of Daegu, Daegu, Korea.
Abstract:
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare disease caused by germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. It is characterized by medullary thyroid carcinoma, pheochromocytoma and mucosal neuroma developing in the tongue, lip, intestinal tract, palate etc. Among these neoplasias, mucosal neuroma generally develops from early childhood. Therefore, early detection and proper treatment can minimize the disease course. Here we describe a 9-year-old male who presented with multiple verrucous papules and nodules on his lips, tongue and gingiva that were there since birth. Histologic findings of his lips and tongue showed well-defined nerve bundles and DNA analysis revealed a M918T mutation at codon 918 of the RET oncogene. He was diagnosed early as having MEN 2B according to his genetic and phenotypic features.
Insights
Multiple endocrine neoplasia type 2B (MEN 2B), a rare genetic disorder, was diagnosed early in a 9-year-old boy with characteristic mucosal neuromas. Genetic testing confirmed a RET proto-oncogene mutation, enabling timely intervention.
Area of Science:
- Genetics
- Oncology
- Endocrinology
Background:
- Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant disorder.
- It is caused by germline mutations in the RET proto-oncogene.
- MEN 2B is characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas.
Observation:
- A 9-year-old male presented with congenital verrucous papules and nodules on the lips, tongue, and gingiva.
- Histological examination revealed well-defined nerve bundles in the affected tissues.
- The patient exhibited early-onset mucosal neuromas, a hallmark of MEN 2B.
Findings:
- DNA analysis identified a specific M918T mutation in the RET oncogene.
- The patient's clinical presentation and genetic findings were consistent with MEN 2B.
- Early diagnosis was achieved through a combination of phenotypic and genotypic evaluation.
Implications:
- Early detection of MEN 2B is crucial for managing the disease course.
- Genetic testing for RET proto-oncogene mutations aids in early diagnosis.
- Prompt diagnosis and treatment can potentially improve outcomes for patients with MEN 2B.