A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history.
Hum Pathol
; 46(12): 1962-9, 2015 Dec.
Article
in En
| MEDLINE
| ID: mdl-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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thyroid Neoplasms
/
Carcinoma
/
Oncogene Proteins, Fusion
/
Receptors, Cell Surface
/
Proto-Oncogene Proteins c-ret
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Hum Pathol
Journal subject:
PATOLOGIA
Year:
2015
Document type:
Article