Title:The Genetics of Papillary Microcarcinomas of the Thyroid: Diagnostic and Prognostic Implications
VOLUME: 18 ISSUE: 3
Author(s):Ana Cunha Rodrigues, Gustavo Penna, Elisabete Rodrigues, Patrícia Castro, Manuel Sobrinho-Simoes and Paula Soares
Affiliation:Department of Pathology, Medical Faculty, University of Porto, Porto, Department of Internal Medicine - Endocrinology, Medical Faculty, Federal University of Rio de Janeiro, Rio de Janeiro, Department of Endocrinology, Medical Faculty, University of Porto, Porto, Instituto de Investigacao e Inovacao em Saude (I3S), Universidade do Porto, Porto, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Department of Pathology Faculty of Medicine, Porto University, Porto
Keywords:Papillary microcarcinoma of the thyroid, mPTC, BRAF, RAS, TERT, RET/PTC, Genetics, Prognosis.
Abstract:Papillary microcarcinoma of the thyroid (mPTC) is defined by the WHO as a papillary thyroid
cancer measuring 10mm or less in diameter and it is nowadays a topic of intense debate among
the members of the medical community due to its apparent “epidemic” rise. Although these tumors
follow almost always an indolent clinical course and carry an excellent prognosis, it is known that a
small subset may display a potentially aggressive behavior. Nevertheless, we still lack an accurate
way of predicting those which will cause significant disease. In an attempt to address this problem, a
number of clinico-pathologic features have been studied as poor prognostic markers in mPTC, and
their association with known genetic alterations in thyroid cancer has been evaluated. Herein we review
the present knowledge concerning mPTC’s genetic profile, namely the prevalence of BRAF
(V600E), RAS and TERT promoter mutations and RET/PTC and PAX8-PPARG rearrangements and
report the results of the evaluation in the putative prognostic value of these genetic alterations in
mPTC.
