ECE2016 Eposter Presentations Endocrine tumours and neoplasia (68 abstracts)
Medullary Thyroid Cancer: a comparative study between sporadic and familial cases in a reference care center in Spain
Guillermo Ropero Luis 1 , José Ángel Díaz Pérez 2 , Emilia Gómez Hoyos 3 , Martín Cuesta Hernández 4 , Irene Crespo Hernández 2 , Teresa Ruiz Gracia 2 & Paz de Miguel Novoa 2
1Department of Internal Medicine, Hospital Regional Universitario de Málaga, Málaga, Spain; 2Department of Endocrinology and Nutrition, Hospital Clínico San Carlos, Madrid, Spain; 3Department of Endocrinology and Nutrition, Hospital Clínico Universitario de Valladolid, Valladolid, Spain; 4Endocrine Unit, Beaumont Hospital, Dublin, Ireland.
Introduction: Hereditary Medullary Thyroid Cancer (MTC) accounts for 20–30% of cases and has some clinically relevant peculiarities.
Material and methods: Retrospective, unicentric cohort study that included all genotyped patients with MTC (n=48) diagnosed at Hospital Clínico San Carlos (Madrid) between 1984–2013; 42% were germline mutation carriers (45% moderate risk (category MOD), 45% high risk (category H), 10% highest risk (category HST)). Median follow-up was 61 (IQR 22–104) months. A comparative analysis was performed using the Student’s t-test, the χ2 test and the log-rank test.
Results: Mean age at diagnosis was 37.6 (S.D. 20.4) years in familial cases, and 62.5 (12.2) in sporadic cases (P<.001); local or distant metastases were present in 44% of familial cases and 61% of sporadic cases (P=NS). Most of the familial cases (55%) were asymptomatic and diagnosed after genetic screening. Six months after total thyroidectomy, 24% of sporadic cases and no familial cases showed progression. During follow-up, 27% of sporadic cases and 6% of familial cases developed distant metastases (median time 30 (8–56) months). Progression-free survival (PFS) and distant metastases-free survival (DMFS) were longer in familial cases (P=NS). Attributable mortality due to MTC was 23% in sporadic cases and 0% in familial cases; overall survival (OS) was longer in familial cases (P=0.03).
Conclusions: Age at diagnosis was significantly lower in familial cases of MTC. Genetic testing allowed for early diagnosis in asymptomatic mutation carriers, therefore familial cases had a better outcome and a longer survival.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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