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Genetic testing for multiple endocrine neoplasia type 2
Diana Loreta Păun1, Maria Mohora, Carmen Duţă
1C.I. Parhon National Institute of Endocrinology , Bucharest, Romania. dsp@mailbox.ro
Abstract:
Multiple endocrine neoplasia type 2 (MEN 2) represents a complex autosomal dominant inherited syndrome characterized by occurrence of distinct proliferative disorders of endocrine tissues. The identification of RET proto-oncogene mutations in MEN 2 and FMCT has provided a precise method for identifying gene carriers. 30 subjects (9 males, 21 females, age range 11-63 years) with multiple endocrine neoplasia type 2 have been investigated from 1998 till 2006. 20 patients were considered as index cases and 10 patients were identified after a screening programme for MEN 2. Tumoral associations permitted the MEN 2A diagnosis in 21 cases, MEN 2A with cutaneous lichen amyloidosis in 6 cases and FMCT in 3 cases. We selected 22 patients from 14 families to investigate mutations in the RET proto-oncogene. In 7 subjects no mutations could be detected in the exons 10 and 11 of the RET proto-oncogene. Heterozygous missense mutations in exon 11 were found in 15 subjects consisting of three different mutations in codon 634 (TGC --> TGG, TGC --> GGC, TGC --> CGC). We conclude that our 15 patients have the most frequent mutations described in MEN 2A families. Because the testing for exons 10 and 11 is negative for other 7 patients, the remaining 13, 14, 15 and 16 exons should be sequenced in these cases.
Insights
Multiple endocrine neoplasia type 2 (MEN 2) is an inherited syndrome. RET proto-oncogene mutations, particularly in exon 11, are key for identifying carriers and diagnosing MEN 2A.
Area of Science:
- Genetics
- Endocrinology
- Oncology
Background:
- Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited syndrome.
- Distinct proliferative disorders of endocrine tissues characterize MEN 2.
- RET proto-oncogene mutations are crucial for identifying MEN 2 gene carriers.
Purpose of the Study:
- To investigate RET proto-oncogene mutations in patients with MEN 2.
- To identify specific mutations associated with MEN 2A and familial medullary thyroid carcinoma (FMCT).
- To determine the frequency of known mutations in a cohort of MEN 2 patients.
Main Methods:
- Genetic analysis of RET proto-oncogene exons 10 and 11 in 22 patients from 14 families.
- Clinical diagnosis of MEN 2A, MEN 2A with cutaneous lichen amyloidosis, and FMCT.
- Sequencing of RET proto-oncogene exons to detect mutations.
Main Results:
- Heterozygous missense mutations in RET proto-oncogene exon 11 were identified in 15 subjects.
- Three distinct mutations in codon 634 (TGC to TGG, TGC to GGC, TGC to CGC) were found.
- No mutations were detected in exons 10 and 11 for 7 subjects.
Conclusions:
- The identified mutations in codon 634 of exon 11 are the most frequent in MEN 2A families.
- Further sequencing of exons 13-16 is recommended for patients negative for mutations in exons 10 and 11.
- Genetic testing of RET proto-oncogene is essential for MEN 2 diagnosis and carrier identification.
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