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

详细信息    查看全文

• 作者：Tereza Halkova ; MSc^a ; ^b ; ^{thalkova@endo.cz" class="auth_mail" title="E-mail the corresponding author} ; Sarka Dvorakova ; PhD^a ; Eliska Vaclavikova ; PhD^a ; ^b ; Vlasta Sykorova ; PhD^a ; Josef Vcelak ; MSc^a ; ^b ; Pavla Sykorova ; MD^c ; Petr Vlcek ; MD^c ; Martin Reboun ; MSc^d ; Rami Katra ; MD^e ; Daniela Kodetova ; MD^f ; Melanie Schrumpf^g ; Tom van Wezel^g ; Hans Morreau^g ; Bela Bendlova^a
• 关键词：Papillary thyroid cancer ; RET gene ; RET/PTC rearrangement ; RET/PTC1ex9 ; Fused gene ; Next-generation sequencing
• 刊名：Human Pathology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：46
• 期：12
• 页码：1962-1969
• 全文大小：702 K

文摘

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/PTC1ex9 in metastatic PTC of 8-year-old boy. RET/PTC1ex9 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.