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Year : 2009  |  Volume : 5  |  Issue : 3  |  Page : 198-202

RET genetic screening in patients with medullary thyroid cancer: The Moroccan experience

1 Laboratoire d'Hormonologie et Marqueurs tumoraux, Morocco
2 Laboratoire de Biochimie et Biologie Moléculaire, Assistance Publique des Hôpitaux de Marseille, France
3 Service de Médecine Nucléaire, Centre Hospitalier Universitaire Ibn Rochd, Faculté de Médecine et de Pharmacie, Université Hassan II, Morocco
4 Laboratoire de Microbiologie et Biologie Moléculaire, Institut Pasteur du Maroc, Morocco
5 Laboratoire de Physiologie et Ecophysiologie, FST, Université Hassan II- Mohammedia, Morocco
6 Laboratoire de Biochimie, Environnement & Agroalimentaire, FST, Université Hassan II- Mohammedia, Morocco

Correspondence Address:
Ainahi Abdelhakim
Institut Pasteur du Maroc, 1 Louis Pasteur, 20360 - Casablanca
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.57126

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Background : Germline RET gene mutations are well known to be the genetic causes of multiple endocrine neoplasia type 2 (MEN2) and may be identified by genetic screening. Aim : The purpose of the present study was to screen nine MTC patients for RET sequence changes. Materials and Methods : In this study, our sample was composed of 30 individuals: 9 index patients with medullary thyroid carcinoma (MTC) corresponding either to 3 subjects with clinical evidence of MEN2, 6 with apparently sporadic MTC (sMTC), and 21 relatives have been investigated for RET mutations. After DNA extraction from peripheral blood leukocytes, RET exons 8, 10, 11, 13-16 and exon/intron boundaries were analyzed by direct PCR sequencing. Results : Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T→C) (de novo case), p.Cys634Phe (c1901 G→T), p.Cys634Trp (c1902 C→G), were detected in three individuals with MEN2 phenotype. Of the 21 relatives, 2 cases presented mutation. Among the six probands with sMTC, none was found to carry mutation. There was no difference between RET polymorphisms detected among both MEN2 and sMTC patients. Conclusions : These preliminary data suggest that the RET mutation spectra observed in Moroccan patients with MEN2 are similar to those previously reported in other countries.

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