Article

A novel complex BRAF mutation detected in a solid variant of papillary thyroid carcinoma.

Department of Pathology and Laboratory Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Endocrine Pathology (impact factor: 1.36). 05/2009; 20(2):122-6. DOI:10.1007/s12022-009-9073-3 pp.122-6
Source: PubMed

ABSTRACT BRAF gene mutations are identified in about 45% of papillary thyroid carcinomas (PTC) and represent the most common genetic event in this tumor. Here, we report a case of PTC, solid variant, with a complex BRAF mutation that involves one nucleotide substitution, C1796T, and a CTT triplet insertion, 1798_1799insCTT, located on the same allele. This mutation leads to the replacement of a threonine with an isoleucine, T599I, and replacement of a valine with an alanine and a leucine, V600delinsAL. This mutation was identified both in the preoperative fine needle aspirate sample and in the surgical specimen after total thyroidectomy. Other rare BRAF mutations in PTC are reviewed.

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Keywords

allele
 
BRAF gene mutations
 
common genetic event
 
complex BRAF mutation
 
CTT triplet insertion
 
involves one nucleotide substitution
 
isoleucine
 
leucine
 
mutation
 
preoperative fine needle aspirate sample
 
rare BRAF mutations
 
solid variant
 
threonine
 
tumor
 
valine
 

Simion Chiosea