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Papillary thyroid carcinomas with and without BRAF V600E mutations are morphologically distinct
Author(s) -
Finkelstein Alexander,
Levy Gillian H,
Hui Pei,
Prasad Avinash,
Virk Renu,
Chhieng David C,
Carling Tobias,
Roman Sanziana A,
Sosa Julie A,
Udelsman Robert,
Theoharis Constantine G,
Prasad Manju L
Publication year - 2012
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/j.1365-2559.2011.04149.x
Subject(s) - psammoma body , pathology , mutation , v600e , histopathology , thyroid , biology , cancer research , thyroid carcinoma , eosinophilic , medicine , immunohistochemistry , gene , endocrinology , genetics
Finkelstein A, Levy G H, Hui P, Prasad A, Virk R, Chhieng D C, Carling T, Roman S A, Sosa J A, Udelsman R, Theoharis C G & Prasad M L
(2012) Histopathology 60, 1052–1059 Papillary thyroid carcinomas with and without BRAF V600E mutations are morphologically distinct Aims: The BRAF V600E mutation resulting in the production of an abnormal BRAF protein has emerged as the most frequent genetic alteration in papillary thyroid carcinomas (PTCs). This study was aimed at identifying distinctive features in tumours with and without the mutation. Methods and results: Thirty‐four mutation‐positive and 22 mutation‐negative tumours were identified by single‐strand conformation polymorphism of the amplified BRAF V600E region in the tumour DNA. Mutation‐positive tumours were more common in patients older than 45 years (24/33, P = 0.05), in classic (23/30, P = 0.01), tall cell (4/5) and oncocytic/Warthin‐like (2/2) variants of PTC, and in subcapsular sclerosing microcarcinomas (4/4). In contrast, all 12 follicular variants ( P < 0.0001) and two diffuse sclerosing variants were negative for the mutation. Mutation‐positive tumours displayed infiltrative growth (32/34, P = 0.02), stromal fibrosis (33/34, P < 0.001), psammoma bodies (17/34, P = 0.05), plump eosinophilic tumour cells (22/34, P = 0.01), and classic fully developed nuclear features of PTC (33/34, P = 0.0001). Encapsulation was significantly associated with mutation‐negative tumours (15/22, P = 0.02). Conclusions: BRAF V600E mutation‐positive and negative PTCs are morphologically different. Recognition of their morphology may help in the selection of appropriate tumours for genetic testing.