Determination of COL1A1-PDGFB breakpoints by next-generation sequencing in the molecular diagnosis of dermatofibrosarcoma protuberans.
Exp Mol Pathol
; 122: 104672, 2021 10.
Article
en En
| MEDLINE
| ID: mdl-34371012
ABSTRACT
OBJECTIVE:
In most cases, dermatofibrosarcoma protuberans (DFSP) is characterized by the chromosomal translocation t (17; 22) (q22; q13) that leads to a fusion of collagen type 1 alpha 1 (COL1A1) and platelet-derived growth factor beta chain (PDGFB). Recently, next-generation sequencing (NGS) has been reported to detect fusion transcripts in some malignancies. Therefore, the present study aimed to evaluate the utility of the targeted NGS in detecting the COL1A1-PDGFB fusion in patients with DFSP.METHODS:
We designed a targeted DNA capture panel to tile along the fusion regions, including exon, intron, and untranslated regions of the COL1A1 and PDGFB. A cohort of 18 DNA samples extracted from formalin-fixed, paraffin-embedded tissues was used to evaluate the targeted NGS. The results were compared with that of fluorescence in situ hybridization (FISH).RESULTS:
The COL1A1-PDGFB fusion was identified in 13 of 18 cases (72.2%) by targeted NGS assay. PDGFB breakpoints were constantly found in exon 2, while breakpoints in COL1A1 varied from exon 15 to 46. Of these 18 cases assayed by FISH, 12 (66.7%) exhibited COL1A1-PDGFB fusion signals. One case (P9), which was FISH-negative, was demonstrated with the fusion by targeted NGS and validated by PCR and Sanger sequencing. The targeted NGS results showed a high concordance with the results of the FISH assay (94.4%).CONCLUSION:
Our study reported a targeted NGS assay for detecting the breakpoints of the COL1A1-PDGFB fusion gene, which can be implemented in diagnosing patients with DFSP.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Dermatofibrosarcoma
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Proteínas Proto-Oncogénicas c-sis
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Patología Molecular
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Cadena alfa 1 del Colágeno Tipo I
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
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Adult
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Aged
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Child
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Exp Mol Pathol
Año:
2021
Tipo del documento:
Article
País de afiliación:
China