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

Publikace na Přírodovědecká fakulta, 1. lékařská fakulta, 2. lékařská fakulta |
2015

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

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.