Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B
R A Pacheco-Rivera1, E Hernández-Zamora, B González-Yebra
1Laboratorio de Diagnóstico Molecular, ENCB IPN, México city, México.
Clinical and Experimental Medicine
|January 22, 2011
Summary
A novel oligoarray effectively detects the T918C/RET mutation, crucial for diagnosing Multiple Endocrine Neoplasia type 2B (MEN 2B). This method offers a specific and versatile alternative for molecular diagnostics of MEN 2B.
Area of Science:
- Oncology
- Genetics
- Molecular Diagnostics
Background:
- Multiple Endocrine Neoplasia type 2B (MEN 2B) is primarily linked to the T918C mutation in the RET oncogene.
- Accurate and efficient detection of this mutation is vital for timely diagnosis and patient management.
Purpose of the Study:
- To develop a single oligoarray using tandem hybridization for detecting the T918C/RET mutation in MEN 2B patients.
- To evaluate the oligoarray's specificity and applicability across various DNA sources.
Main Methods:
- Development of a single oligoarray employing tandem hybridization for T918C/RET mutation detection.
- Validation of the oligoarray using PCR-Fok I endonuclease and direct sequencing.
- Testing the array with DNA from fresh and paraffin-embedded tissues.
Main Results:
- The oligoarray successfully identified the T918C/RET mutation in heterozygous MEN 2B patients.
- The method demonstrated high specificity and was effective with diverse DNA sources, including archival tissues.
- The study identified two de novo cases of MEN 2B, as relatives were negative for the mutation.
Conclusions:
- The developed oligoarray is a specific and reliable tool for identifying the common M918T mutation of the RET oncogene.
- This oligoarray serves as a valuable alternative for the molecular diagnosis of MEN 2B.
- The method's adaptability to various DNA sources enhances its utility in clinical settings.
