Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
+44 1223 790975
ISSN: ISSN: 2157-7412
+44 1223 790975
Anna Ciampolillo
Bari "Aldo Moro" University School of Medicine, Italy
Posters & Accepted Abstracts: J Genet Syndr Gene Ther
There are contrasting views on whether familial non medullary thyroid carcinomas (FNMTCs) are character�?¬ized by aggressive behavior and limited evidence exists on the prognostic value of BRAF and RAS mutations in these tumors. Thus, in the present study, clinic pathological features were analyzed in 386 non medullary thyroid carcinomas (NMTCs), subdivided in 82 familial and 304 sporadic cases. Furthermore, the RAS and BRAF mutational statuses were investigated in a subgroup of 34 FNMTCs to address their clinical and biolog�?¬ical significance. The results demonstrated that, compared with sporadic NMTCs, FNMTCs are characterized by significantly higher rates of multi-centricity and bi-laterality and are more frequently associated with chronic autoimmune thyroiditis. Notably, a statistically significant difference in the rates of multi-centricity was observed by sub-grouping familial tumors according to the number of relatives involved; those with â�?¥3 affected relatives were more likely to be multi-centric. Further�?¬more, the FNMTC cohort exhibited higher rates of tumors >4 cm in size with extra-thyroidal or lymph node involvement. However, no significant difference was observed. Similarly, no differences were observed with respect to the age of onset or the patient outcome. The mutational profiling exhibited a rate of 58.8% for BRAF V600E mutations in familial tumors, which is at the upper limit of the mutational frequency observed in historical series of sporadic thyroid cancer. A high rate of NRAS mutations (17.6%) was also observed, mostly in the follicular variant histo-type. Notably, compared with BRAF/RAS wild-type FNMTCs, the familial carcinomas bearing BRAF NRAS mutations exhibited slightly higher rates of bi-laterality and multi-centricity, in addition to increased frequency of locally advanced stage or lymph node involve�?¬ment. The present data support the theory that FNMTCs are characterized by clinic-pathological features that resemble a more aggressive phenotype and suggest that RAS/BRAF muta�?¬tional analysis deserves to be further evaluated as a tool for the identification of FNMTCs with a potentially unfavorable prognosis.
Email: anna.ciampolillo@uniba.it