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  • Title: A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history.
    Author: Halkova T, Dvorakova S, Vaclavikova E, Sykorova V, Vcelak J, Sykorova P, Vlcek P, Reboun M, Katra R, Kodetova D, Schrumpf M, van Wezel T, Morreau H, Bendlova B.
    Journal: Hum Pathol; 2015 Dec; 46(12):1962-9. PubMed ID: 26472164.
    Abstract:
    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.
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