ECE2007 Poster Presentations (1) (659 abstracts)
Prognostic value of polymorphisms and somatic RET proto-oncogene mutations in sporadic medullary thyroid carcinoma (MTC)
Barbara Cosci 1 , Cristina Romei 1 , Pamela Piampiani 1 , Mariangela Sculli 1 , Paolo Miccoli 2 , Clara Ugolini 3 , Michele Minuto 2 , Aldo Pinchera 1 & Rossella Elisei 1
1Department of Endocrinology, University of Pisa, Pisa, Italy; 2Department of Surgery, University of Pisa, Pisa, Italy; 3Department of Oncology, University of Pisa, Pisa, Italy.
Germline point mutations of the RET proto-oncogene are causative of hereditary MTC. Somatic mutations are described in 40% of sporadic MTCs. Although a relationship between somatic mutations and bad prognosis has been described, data are controversial.No date on the prognostic value of RET polymorphisms are available.
Aim of the work was to verify if the presence of a somatic RET mutation and or a polymorphisms can influence the prognosis of MTC. This study was performed in a large series of MTC with a mean follow-up of 10 years.
Seventy MTC cases, known to be sporadic on the basis of genetic analysis, were studied. RET point mutations and polymorphisms were analysed by direct sequencing.
We identified a total of 28 somatic RET mutations (40%). In particular 1 (3%) 48 bp deletion in exon 10, 1 (3%) 883 mutation in exon 15, 3 (10.7%) 634 mutations in exon 11 and 23 (82%) 918 mutations in exon 16 were described. RET mutations were correlated with TNM and outcome. Among 28 mutated patients, 6 were free of disease and 22 were affected by MTC or dead. On the contrary among the 42 not mutated patients, 23 were free of disease and 19 were affected by MTC or dead (P=0.006). In the group of mutated tumors we found 16 patients (57%) with lymph-node metastasis. On the contrary only 12 (28.5%) cases of lymph-node metastasis were identified among not mutated patients (P=0.004). No statistically significant correlation between RET mutation, the size of the tumour and the presence of distant metastasis was found. RET polymorphisms did not show any correlation with clinico-pathological features of the tumor.
In conclusion our study show that RET somatic mutation is a negative prognostic factor for MTC and is significantly correlated with lymph-node metastasis. Although Met918Thr mutation is the most frequent, somatic RET mutations can be found in different exons.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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