ICEECE2012 Poster Presentations Thyroid cancer (108 abstracts)
Ret somatic mutations are not an early event in the tumoral transformation of sporadic medullary thyroid cancer
C. Romei , B. Cosci , C. Ugolini , V. Bottici , E. Molinaro , L. Agate , A. Tacito , F. Basolo , P. Miccoli , A. Pinchera & R. Elisei
University of Pisa, Pisa, Italy.
The reported prevalence of RET somatic mutations in sporadic MTC is about 40–50% and the most frequent somatic mutation is Met918Thr in exon 16. MTC harboring a somatic RET mutation have been demonstrated to have a more advanced stage at diagnosis and a worse outcome. Although RET mutations are believed to be driving events in the MTC tumorigenesis only the finding of somatic mutations in microMTC can confirm this hypothesis.
Aim of the present work was to search for RET somatic mutations in sporadic microMTC (<1 cm) and to compare their prevalence between microMTC and MTC of bigger size.
We selected a group of 148 MTC cases in which RET exon 16 point mutation was analyzed by direct sequencing. Tumors were classified according to the size of the nodule as follows: group A, <1 cm; group B, >1 and <2 cm; group C, >2 and <3 cm; group D, >3 cm.
The overall prevalence of RET mutation was 18.24% (27/148). RET mutations were differently distributed in the four groups. In particular it was 4.6% (2/43) in group A, 12.5% (8/64) in group B, 40% (8/20) in group C and 42.8% (9/21) in group D, thus showing an increasing rate according to the increase of the tumor size. Furthermore, when comparing the prevalence of mutations in the four groups we found a lower prevalence in microMTC (P<0.0001).
In conclusion these data indicate that: i) the overall prevalence of RET somatic mutations is lower than expected; ii) the prevalence of RET somatic mutations is very low (4.5%) in microMTC suggesting that they are not an early event in MTC tumorigenesis. As an alternative to this hypothesis we have to suppose that microMTC could be caused by other oncogene(s) with a lower transforming activity.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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