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


OBJECTIVE
The purpose of the present study was to screen nine MTC patients for RET sequence changes.


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.
Abdelhakim
Ainahi
A
Laboratoire d'Hormonologie et Marqueurs Tumoraux, Morocco. abdelhakim.ainahi@pasteur.ma
Barlier
Anne
A
Kebbou
Mohamed
M
Benabdeljalil
Nadia
N
Timinouni
Mohammed
M
Taoufiq
Fechtali
F
Roche
Catherine
C
El Antri
Said
S
D000328:Adult; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009018:Morocco; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics; D011110:Polymorphism, Genetic; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics
D051096:Proto-Oncogene Proteins c-ret