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NTRK Gene Fusion Detection in Atypical Spitz Tumors

Authors :
Rocco Cappellesso
Filippo Nozzoli
Federica Zito Marino
Sara Simi
Francesca Castiglione
Vincenzo De Giorgi
Carlo Cota
Rebecca Senetta
Giosuè Scognamiglio
Anna Maria Anniciello
Anna Maria Cesinaro
Mario Mandalà
Andrea Gianatti
Maria Gabriella Valente
Barbara Valeri
Angela Rita Sementa
Costantino Ricci
Barbara Corti
Giandomenico Roviello
Angelo Paolo Dei Tos
Renato Franco
Daniela Massi
Source :
International Journal of Molecular Sciences, Vol 22, Iss 22, p 12332 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

Atypical Spitz tumors (AST) deviate from stereotypical Spitz nevi for one or more atypical features and are now regarded as an intermediate category of melanocytic tumors with uncertain malignant potential. Activating NTRK1/NTRK3 fusions elicit oncogenic events in Spitz lesions and are targetable with kinase inhibitors. However, their prevalence among ASTs and the optimal approach for their detection is yet to be determined. A series of 180 ASTs were screened with pan-TRK immunohistochemistry and the presence of NTRK fusions was confirmed using FISH, two different RNA-based NGS panels for solid tumors, and a specific real time RT-PCR panel. Overall, 26 ASTs showed pan-TRK immunostaining. NTRK1 fusions were detected in 15 of these cases showing cytoplasmic immunoreaction, whereas NTRK3 was detected in one case showing nuclear immunoreaction. Molecular tests resulted all positive in only two ASTs (included the NTRK3 translocated), RNA-based NGS and real time RT-PCR were both positive in three cases, and FISH and real time RT-PCR in another two cases. In seven ASTs NTRK1 fusions were detected only by FISH and in two cases only by real time RT-PCR. The frequency of NTRK fusions in ASTs is 9%, with a clear prevalence of NTRK1 compared to NTRK3 alterations. Pan-TRK immunohistochemistry is an excellent screening test. Confirmation of NTRK fusions may require the use of different molecular techniques.

Details

Language :
English
ISSN :
14220067 and 16616596
Volume :
22
Issue :
22
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.162131aa93f545a9b9095cb66dab4452
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms222212332