Ret proto-oncogene mutations in apparently sporadic Turkish medullary thyroid carcinoma patients: Turkmen study

Erdogan M., Gursoy A., Ozgen G., Cakir M., Bayram F., Ersoy R., ...Daha Fazla

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, cilt.28, sa.9, ss.806-809, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 9
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1007/bf03347570
  • Dergi Adı: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.806-809
  • Anahtar Kelimeler: ret protooncogene, sporadic medullary thyroid carcinoma, multiple endocrine neoplasia type 2, MULTIPLE ENDOCRINE NEOPLASIA, MEN 2A, PROPHYLACTIC THYROIDECTOMY, DISEASE PHENOTYPE, TYPE-2, MANAGEMENT, FMTC, CONSORTIUM, DIAGNOSIS, GENOTYPE
  • Kocaeli Üniversitesi Adresli: Evet

Özet

Objective: Medullary thyroid carcinoma (MTC) frequently occurs in a sporadic form, but a substantial number of cases are hereditary and appear as part of the multiple endocrine neoplasia type 2 (MEN2) syndromes. Germline mutations in ret proto-oncogene have been shown to be the underlying cause of MEN2 syndromes. Design: We carried out a multi-center study that aimed to perform mutational analysis of so called sporadic MTC patients. Methods: Fifty-six MTC patients verified by histopathologic examination were subjected to genetic analysis. Exon 10, 11, 13, 14, 15 and 16 of the ret gene were analyzed by DNA sequencing and restriction enzyme digestion method. Results: Among 56 apparently sporadic MTC patients, we identified 6 (10.7%) ret germline mutation carriers. Three individuals carried mutations at codon 634 in exon 11, one at codon 618 in exon 10, and two at codon 804 in exon 14. Identification of the predisposition gene mutation has allowed DNA-based strategy for direct mutation detection in patients with apparently sporadic MTCs. A substantial number of patients with apparently sporadic MTC. carried germline mutations and 50% of their first degree relatives are expected to have or to develop MTC and/or other endocrine tumors. Conclusions: These results indicate the importance of careful genetic surveillance of any patient with apparently sporadic MTCs.