A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
26472164
DOI
10.1016/j.humpath.2015.08.013
PII: S0046-8177(15)00319-6
Knihovny.cz E-zdroje
- Klíčová slova
- Fused gene, Next-generation sequencing, Papillary thyroid cancer, RET gene, RET/PTC rearrangement, RET/PTC1ex9,
- MeSH
- dítě MeSH
- fúzní onkogenní proteiny genetika MeSH
- genová přestavba MeSH
- karcinom genetika MeSH
- lidé MeSH
- nádory štítné žlázy genetika MeSH
- papilární karcinom štítné žlázy MeSH
- papilární karcinom MeSH
- Patched receptory MeSH
- polymerázová řetězová reakce MeSH
- protoonkogenní proteiny c-ret genetika MeSH
- receptory buněčného povrchu genetika MeSH
- sekvenční analýza DNA MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- fúzní onkogenní proteiny MeSH
- Patched receptory MeSH
- protoonkogenní proteiny c-ret MeSH
- receptory buněčného povrchu MeSH
- RET protein, human MeSH Prohlížeč
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.
Department of Molecular Endocrinology Institute of Endocrinology Prague 1 11694 Czech Republic
Department of Pathology Leiden University Medical Center Leiden 2333 ZA The Netherlands
Citace poskytuje Crossref.org
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