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

被引：10

作者：

Halkova, Tereza ^{[1
,2
]}

Dvorakova, Sarka ^{[1
]}

Vaclavikova, Eliska ^{[1
,2
]}

Sykorova, Vlasta ^{[1
]}

Vcelak, Josef ^{[1
]}

Sykorova, Pavla ^{[3
,4
]}

Vlcek, Petr ^{[2
,3
,4
]}

Reboun, Martin ^{[5
,6
]}

Katra, Rami ^{[7
,8
]}

Kodetova, Daniela ^{[8
,9
,10
]}

Schrumpf, Melanie ^{[11
]}

van Wezel, Tom ^{[11
]}

Morreau, Hans ^{[11
]}

Bendlova, Bela ^{[1
]}

机构：

[1] Inst Endocrinol, Dept Mol Endocrinol, Prague 11694 1, Czech Republic

[2] Charles Univ Prague, Fac Sci, Dept Biochem, Prague 12843 2, Czech Republic

[3] Charles Univ Prague, Fac Med 2, Dept Nucl Med & Endocrinol, Prague 15006 5, Czech Republic

[4] Fac Hosp Motol, Prague 15006 5, Czech Republic

[5] Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague 12808 2, Czech Republic

[6] Gen Univ Hosp Prague, Prague 12808 2, Czech Republic

[7] Charles Univ Prague, Fac Med 2, Dept ENT, Prague 15006 5, Czech Republic

[8] Motol Univ Hosp, Prague 15006 5, Czech Republic

[9] Charles Univ Prague, Fac Med 2, Dept Pathol, Prague 5, Czech Republic

[10] Charles Univ Prague, Fac Med 2, Dept Mol Med, Prague 5, Czech Republic

[11] Leiden Univ, Med Ctr, Dept Pathol, NL-2333 ZA Leiden, Netherlands

来源：

HUMAN PATHOLOGY | 2015年 / 46卷 / 12期

关键词：

Papillary thyroid cancer; RET gene; RET/PTC rearrangement; RET/PTC1ex9; Fused gene; Next-generation sequencing; CHERNOBYL REACTOR ACCIDENT; RET PROTOONCOGENE; MOLECULAR CHARACTERIZATION; TYROSINE KINASE; REARRANGED FORM; HIGH PREVALENCE; CARCINOMAS; CHILDREN; GENE; RADIATION;

D O I：

10.1016/j.humpath.2015.08.013

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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 curve analysis 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. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：1962 / 1969

页数：8

共 34 条

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