A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10315362" target="_blank" >RIV/00216208:11110/15:10315362 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11310/15:10315362 RIV/00216208:11130/15:10315362 RIV/00023761:_____/15:#0000526 RIV/00064203:_____/15:10315362

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.humpath.2015.08.013" target="_blank" >http://dx.doi.org/10.1016/j.humpath.2015.08.013</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.humpath.2015.08.013" target="_blank" >10.1016/j.humpath.2015.08.013</a>

Jazyk výsledku

angličtina

Název v původním jazyce

A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history

Popis výsledku v původním jazyce

Papillary thyroid carcinoma (PTC) is the most frequent type of thyroid cancer. Its development is often caused by the formation of RET/PTC fused genes. RET/PTC1 is the most prevalent form, where exon 1 of CCDC6 gene is fused with the intracellular portion of RET protooncogene starting with exon 12. We have discovered a novel RET/PTC1 variant which we have named RET/PTC1 ex9 in metastatic PTC of 8-year-old boy. RET/PTC1 ex9 detection was performed by real-time polymerase chain reaction with melting curveanalysis and subsequent Sanger and next-generation sequencing. A fusion of exon 1 of CCDC6 with exon 9 of extracellular domain of RET followed by exon 12 of RET was revealed. This is the first RET/PTC variant among PTC cases that contain the extracellular part of RET. This observation could be probably explained by incorrect splicing of RET due to the somatic 32-bp deletion in exon-intron 11 boundary of RET.

Název v anglickém jazyce

A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history

Popis výsledku anglicky

Papillary thyroid carcinoma (PTC) is the most frequent type of thyroid cancer. Its development is often caused by the formation of RET/PTC fused genes. RET/PTC1 is the most prevalent form, where exon 1 of CCDC6 gene is fused with the intracellular portion of RET protooncogene starting with exon 12. We have discovered a novel RET/PTC1 variant which we have named RET/PTC1 ex9 in metastatic PTC of 8-year-old boy. RET/PTC1 ex9 detection was performed by real-time polymerase chain reaction with melting curveanalysis and subsequent Sanger and next-generation sequencing. A fusion of exon 1 of CCDC6 with exon 9 of extracellular domain of RET followed by exon 12 of RET was revealed. This is the first RET/PTC variant among PTC cases that contain the extracellular part of RET. This observation could be probably explained by incorrect splicing of RET due to the somatic 32-bp deletion in exon-intron 11 boundary of RET.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

—

Projekt

<a href="/cs/project/NT13901" target="_blank" >NT13901: Studium genetických změn u nádorů štítné žlázy</a><br>

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Human Pathology

ISSN

0046-8177

e-ISSN

—

Svazek periodika

46

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

1962-1969

Kód UT WoS článku

000365836600022

EID výsledku v databázi Scopus

2-s2.0-84947283259