Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion
gene: a hitherto undescribed salivary gland tumor entity.
Mammary analogue secretory carcinoma of salivary glands containing the ETV6-NTRK3 fusion
gene: a hitherto undescribed salivary gland tumour entity.
Herein, we report a rare case of congenital infantile fibrosarcoma of the intestine without the classical ETV6-NTRK3 fusion
In addition, there has been awareness of a number of SC cases positive for the ETV6 gene split as visualized by FISH but in which the classical ETV6-NTRK3 fusion
transcript (exon 5-exon 15 junction) was not detected by standard reverse transcriptase-polymerase chain reaction (RT-PCR).
Mammary analogue secretory carcinoma of salivary glands: molecular analysis of 25 ETV6 gene rearranged tumors with lack of detection of classical ETV6-NTRK3 fusion
transcript by standard RT-PCR: report of 4 cases harboring ETV6-X gene fusion.
In addition, and most importantly, it harbors a t(12;15)(p13;q25) translocation, resulting in ETV6-NTRK3 fusion
It will stain positive for vimentin, and genetic analysis will show a t(12;15) (p13;q25) translocation with a corresponding ETV6-NTRK3 fusion
gene, diagnostic for IF.
The resultant ETV6-NTRK3 fusion
product is a constitutively active chimeric tyrosine kinase and has transformation capacity in the mammary epithelial and myoepithelial cells.
(3) This t(12; 15)(p13; q25) translocation results in the generation of an ETV6-NTRK3 fusion
transcript that is specific to MASC among other salivary gland tumors.
Secretory breast carcinoma with ETV6-NTRK3 fusion
gene belong to the basal-like carcinoma spectrum.
(21, 45) The ETV6-NTRK3 fusion
gene encodes a chimeric tyrosine kinase; the latter activates both Rasmitogen-activated protein kinase pathway and phosphatidylinositol-3-kinase-ATK pathway.
Although coexpression of both mammaglobin and S100 protein is characteristic of mammary analogue secretory carcinoma, polymorphous low-grade adenocarcinomas (60%) and adenoid cystic carcinomas (13.3%) showed significant coexpression of both markers without evidence of ETV6-NTRK3 fusion
. (50) Polymorphous low-grade adenocarcinomas and adenoid cystic carcinomas were positive for p63 and negative for GCDFP-15.