The landscape and genomic characteristics in BRAF V600E wild type papillary thyroid carcinoma

Date 24 November 2018
Event ESMO Asia 2018 Congress
Session Poster display - Cocktail
Topics Thyroid Cancer
Personalised/Precision Medicine
Presenter Mei-yu Fang
Citation Annals of Oncology (2018) 29 (suppl_9): ix113-ix120. 10.1093/annonc/mdy441
Authors M. Fang1, C. Xu2, W. Wang1, M. Wu3, G. Chen2, M. Ge4
  • 1Chemotherapy, Zhejiang Cancer Hospital, 310022 - Hangzhou/CN
  • 2Pathology, Fujian Cancer Hospital, 350014 - Fuzhou/CN
  • 3Pathology, Zhejiang Cancer Hospital, 310022 - Hangzhou/CN
  • 4Head And Neck Surgery, Zhejiang Cancer Hospital, 310022 - Hangzhou/CN

Abstract

Background

Papillary thyroid carcinoma (PTC) is the most common histological thyroid cancer, accounting for approximately 80% of thyroid cancers. BRAF V600E mutations are the most common genetic mutation in PTC and the relationship between BRAF V600E mutations and PTC has recently been a focus of research. While the genetic landscape of BRAF V600E wild PTC patients is unclear. The aim of this study is to investigate the genetic landscape of PTC without BRAF V600E.

Methods

A total of 120 patients with PTC were recruited between 2011 and December 2014. The status of BRAF V600E was detected by reverse transcription polymerase chain reaction (RT-PCR). The BRAF V600E wild patients were validated by next generation sequencing (NGS).

Results

In this study, 14 patients were identified without BRAF V600E (11.67%, 14/120). The BRAF V600E wild type patients were similar to the mutant patients, and could not be distinguished by morphologic features. 57.14% patients (8/14) were found with gene mutation by NGS, including BRAF W604*+ P57L plus TSHR V448I (1 patient); EIF1AX S74L (1 patient); PIK3CA S405F+R693H plus R908K (1 patient); CCDC6-RET (2 patients); RET-PDE5A (1 patient); PIK3CA S405F plus PTEN R233* plus RET E623K (1 patient); KRAS Q61K (1 patient).

Conclusions

BRAF V600E wild PTC patients more frequently show RET fusion. MTOR activation is also a common mechanism for the BRAF wild PTC. The detection of RET fusion gene is beneficial to the diagnosis for the atypical BRAF V600E wild PTC.

Editorial acknowledgement

Clinical trial identification

Legal entity responsible for the study

Mei-yu Fang.

Funding

Has not received any funding.

Disclosure

All authors have declared no conflicts of interest.