Recurrent EML4-NTRK3 fusinons in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F18%3A10373420" target="_blank" >RIV/00216208:11140/18:10373420 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1038/modpathol.2017.127" target="_blank" >http://dx.doi.org/10.1038/modpathol.2017.127</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/modpathol.2017.127" target="_blank" >10.1038/modpathol.2017.127</a>

Result language

angličtina

Original language name

Recurrent EML4-NTRK3 fusinons in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy

Original language description

Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing. The EML4-NTRK3 fusion was identified in two cases of infantile fibrosarcoma (one of which was previously described), and in one case of congenital mesoblastic nephroma, demonstrating that the EML4-NTRK3 fusion is a recurrent genetic event in these related tumors. The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital mesoblastic nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. The use of either NTRK3 FISH or next-generation sequencing will expand the number of cases in which an oncogenic fusion is identified and facilitate optimal diagnosis and treatment for patients.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30109 - Pathology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Modern Pathology

ISSN

0893-3952

e-ISSN

—

Volume of the periodical

31

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

11

Pages from-to

463-473

UT code for WoS article

000427040000009

EID of the result in the Scopus database

2-s2.0-85043371620