Identification of a Recurrent LMO7-BRAF Fusion in Papillary Thyroid Carcinoma

Thyroid : Official Journal of the American Thyroid Association
Huiling HeAlbert de la Chapelle

Abstract

The BRAFV600E mutation is the most common driver in papillary thyroid carcinoma (PTC) tumors. In recent years, gene fusions have also been recognized as important drivers of cancer in PTC. Previous studies have suggested that thyroid tumors with fusion genes frequently display an aggressive course. These observations prompted further exploration of gene fusions in PTC tumors. The aim was to search for previously unrecognized gene fusions using thyroid tissue samples from PTC patients. Gene fusions were analyzed in RNA sequencing data obtained from 12 PTC tumors and paired unaffected thyroid tissue samples. Candidate fusions were further filtered and validated using reverse transcriptase polymerase chain reaction, Sanger sequencing, and fluorescence in situ hybridization. An Ohio cohort of 148 PTC tumor samples was screened for a LMO7-BRAF fusion and the BRAFV600E mutation. Functional assays were performed to assess the LMO7-BRAF fusion. Two coding fusions (CCDC6-RET and LMO7-BRAF) were found in one tumor sample each. The novel LMO7-BRAF fusion was validated by reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization. The LMO7-BRAF fusion was a recurrent somatic alteration with a frequency of 2.0% (...Continue Reading

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Citations

Jun 5, 2020·Thyroid : Official Journal of the American Thyroid Association·Barbora PekovaBela Bendlova
Jan 3, 2021·Journal of Cancer Research and Clinical Oncology·Mian LiuShi Chang
Mar 26, 2021·Frontiers in Cell and Developmental Biology·Xinjian LiuGuangfu Li

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Datasets Mentioned

BETA
GSE83520

Methods Mentioned

BETA
surgical resection
RNA-Seq
Assay
PCR
electrophoresis

Software Mentioned

UCSC genome browser
ChiTaRS
Fusion Catcher
CAFÉ
FARE
Sequencing Analysis
Ensembl
Primer3
FuSpot

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