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Published on: April 4, 2018
RET codon 618 mutations in Saudi families with multiple endocrine neoplasia Type 2A and familial medullary thyroid
1Endocrine, King Abdulaziz University Hospital KAUH, PO Box 13042, Jeddah 21943, Saudi Arabia. faiza_qari@yahoo.com
Background And Objectives:
Certain diseases such as multiple endocrine neoplasia (MEN) 2A, MEN 2B, familial and sporadic medullary thyroid carcinoma (MTC) and renal dysgenesis are related to abnormalities of the RET protein. Our aim was to evaluate the frequency of RET mutation in 10 Saudi families with MEN type 2A and familial MTC.
Design And Setting:
A cross-sectional prospective study of patients followed up at King Abdulaziz University Hospital and King Abdulaziz Medical City, Jeddah, between March 2001 and March 2011.
Patients And Methods:
Genomic DNA was isolated from peripheral blood leukocytes of all subjects by standard procedures. Exons 10, 11, 13, 14 and 16 of the RET proto-oncogene were analyzed by single-strand conformation polymorphism, direct DNA sequencing and/or restriction enzyme analysis.
Results:
We screened 79 subjects for the RET mutation. Of which 43 subjects had hereditary MTC were en.rolled in this study. MEN type 2A was identified in 25 subjects; MTC was diagnosed in all 25 subjects (100%), pheochromocytoma in 13 subjects (52%) and hyperparathyroidism in 4 subjects (16%). The most frequent genotype in patients with MEN 2A syndrome was a codon 618 mutation (46.6%), followed by a codon 634 mutation (44.2%). Among the 5 families with MEN 2A, 3 had a mutation at codon 634, whereas 2 had a mutation at codon 618.
Conclusion:
The most frequent RET proto-oncogene mutation in our series was in codon 618 (exon 10).
Insights
The RET proto-oncogene mutation, particularly in codon 618, is frequently observed in Saudi families with Multiple Endocrine Neoplasia (MEN) type 2A and hereditary Medullary Thyroid Carcinoma (MTC). This finding aids in understanding the genetic basis of these related endocrine disorders.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia (MEN) 2A, MEN 2B, and medullary thyroid carcinoma (MTC) are linked to RET proto-oncogene abnormalities.
- RET mutations are implicated in various endocrine disorders, including renal dysgenesis.
Purpose of the Study:
- To determine the frequency of RET gene mutations in Saudi families affected by MEN type 2A and familial MTC.
- To investigate the specific RET mutation types associated with these hereditary endocrine conditions.
Main Methods:
- A cross-sectional study involving 79 subjects from 10 Saudi families was conducted between March 2001 and March 2011.
- Genomic DNA was extracted from peripheral blood leukocytes.
- Exons 10, 11, 13, 14, and 16 of the RET proto-oncogene were analyzed using single-strand conformation polymorphism and direct DNA sequencing.
Main Results:
- Of 43 subjects with hereditary MTC, 25 had MEN type 2A, with 100% diagnosed with MTC.
- The most common RET mutations in MEN 2A patients were at codon 618 (46.6%) and codon 634 (44.2%).
- Among families with MEN 2A, mutations at codon 634 were found in 3 families, and at codon 618 in 2 families.
Conclusions:
- The most prevalent RET proto-oncogene mutation identified in this Saudi cohort was located at codon 618 (exon 10).
- Understanding RET mutation patterns is crucial for diagnosing and managing hereditary endocrine syndromes like MEN 2A and MTC.
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