NTRK Gene Fusion Detection in Atypical Spitz Tumors

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 <i>NTRK1/NTRK3</i> fusions elicit oncogenic events in Spitz lesions an...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	atypical spitz tumor <i>NTRK</i> <i>NTRK1</i> <i>NTRK3</i> pan-TRK Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/162131aa93f545a9b9095cb66dab4452
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spelling	oai:doaj.org-article:162131aa93f545a9b9095cb66dab44522021-11-25T17:55:31ZNTRK Gene Fusion Detection in Atypical Spitz Tumors10.3390/ijms2222123321422-00671661-6596https://doaj.org/article/162131aa93f545a9b9095cb66dab44522021-11-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/22/12332https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Atypical 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 <i>NTRK1/NTRK3</i> 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 <i>NTRK</i> 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. <i>NTRK1</i> fusions were detected in 15 of these cases showing cytoplasmic immunoreaction, whereas <i>NTRK3</i> was detected in one case showing nuclear immunoreaction. Molecular tests resulted all positive in only two ASTs (included the <i>NTRK3</i> 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 <i>NTRK1</i> 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 <i>NTRK1</i> compared to <i>NTRK3</i> alterations. Pan-TRK immunohistochemistry is an excellent screening test. Confirmation of <i>NTRK</i> fusions may require the use of different molecular techniques.Rocco CappellessoFilippo NozzoliFederica Zito MarinoSara SimiFrancesca CastiglioneVincenzo De GiorgiCarlo CotaRebecca SenettaGiosuè ScognamiglioAnna Maria AnnicielloAnna Maria CesinaroMario MandalàAndrea GianattiMaria Gabriella ValenteBarbara ValeriAngela Rita SementaCostantino RicciBarbara CortiGiandomenico RovielloAngelo Paolo Dei TosRenato FrancoDaniela MassiMDPI AGarticleatypical spitz tumor<i>NTRK</i><i>NTRK1</i><i>NTRK3</i>pan-TRKBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 12332, p 12332 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	atypical spitz tumor <i>NTRK</i> <i>NTRK1</i> <i>NTRK3</i> pan-TRK Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	atypical spitz tumor <i>NTRK</i> <i>NTRK1</i> <i>NTRK3</i> pan-TRK Biology (General) QH301-705.5 Chemistry QD1-999 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 NTRK Gene Fusion Detection in Atypical Spitz Tumors
description	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 <i>NTRK1/NTRK3</i> 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 <i>NTRK</i> 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. <i>NTRK1</i> fusions were detected in 15 of these cases showing cytoplasmic immunoreaction, whereas <i>NTRK3</i> was detected in one case showing nuclear immunoreaction. Molecular tests resulted all positive in only two ASTs (included the <i>NTRK3</i> 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 <i>NTRK1</i> 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 <i>NTRK1</i> compared to <i>NTRK3</i> alterations. Pan-TRK immunohistochemistry is an excellent screening test. Confirmation of <i>NTRK</i> fusions may require the use of different molecular techniques.
format	article
author	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
author_facet	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
author_sort	Rocco Cappellesso
title	NTRK Gene Fusion Detection in Atypical Spitz Tumors
title_short	NTRK Gene Fusion Detection in Atypical Spitz Tumors
title_full	NTRK Gene Fusion Detection in Atypical Spitz Tumors
title_fullStr	NTRK Gene Fusion Detection in Atypical Spitz Tumors
title_full_unstemmed	NTRK Gene Fusion Detection in Atypical Spitz Tumors
title_sort	ntrk gene fusion detection in atypical spitz tumors
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/162131aa93f545a9b9095cb66dab4452
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NTRK Gene Fusion Detection in Atypical Spitz Tumors

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