Molecular alterations in basal cell carcinoma subtypes

Abstract A number of genes have been implicated in the pathogenesis of BCC in addition to the Hedgehog pathway, which is known to drive the initiation of this tumour. We performed in-depth analysis of 13 BCC-related genes (CSMD1, CSMD2, DPH3 promoter, PTCH1, SMO, GLI1, NOTCH1, NOTCH2, TP53, ITIH2, D...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Lucia Di Nardo, Cristina Pellegrini, Alessandro Di Stefani, Francesco Ricci, Barbara Fossati, Laura Del Regno, Carmine Carbone, Geny Piro, Vincenzo Corbo, Pietro Delfino, Simona De Summa, Maria Giovanna Maturo, Tea Rocco, Giampaolo Tortora, Maria Concetta Fargnoli, Ketty Peris
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/42184938104c4252943a7b251521a537
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:42184938104c4252943a7b251521a537
record_format	dspace
spelling	oai:doaj.org-article:42184938104c4252943a7b251521a5372021-12-02T17:12:25ZMolecular alterations in basal cell carcinoma subtypes10.1038/s41598-021-92592-32045-2322https://doaj.org/article/42184938104c4252943a7b251521a5372021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-92592-3https://doaj.org/toc/2045-2322Abstract A number of genes have been implicated in the pathogenesis of BCC in addition to the Hedgehog pathway, which is known to drive the initiation of this tumour. We performed in-depth analysis of 13 BCC-related genes (CSMD1, CSMD2, DPH3 promoter, PTCH1, SMO, GLI1, NOTCH1, NOTCH2, TP53, ITIH2, DPP10, STEAP4, TERT promoter) in 57 BCC lesions (26 superficial and 31 nodular) from 55 patients and their corresponding blood samples. PTCH1 and TP53 mutations were found in 71.9% and 45.6% of BCCs, respectively. A high mutation rate was also detected in CSMD1 (63.2%), NOTCH1 (43.8%) and DPP10 (35.1%), and frequent non-coding mutations were identified in TERT (57.9%) and DPH3 promoter (49.1%). CSMD1 mutations significantly co-occurred with TP53 changes (p = 0.002). A significant association was observed between the superficial type of BCC and PTCH1 (p = 0.018) and NOTCH1 (p = 0.020) mutations. In addition, PTCH1 mutations were significantly associated with intermittent sun exposure (p = 0.046) and the occurrence of single lesions (p = 0.021), while NOTCH1 mutations were more frequent in BCCs located on the trunk compared to the head/neck and extremities (p = 0.001). In conclusion, we provide further insights into the molecular alterations underlying the tumorigenic mechanism of superficial and nodular BCCs with a view towards novel rationale-based therapeutic strategies.Lucia Di NardoCristina PellegriniAlessandro Di StefaniFrancesco RicciBarbara FossatiLaura Del RegnoCarmine CarboneGeny PiroVincenzo CorboPietro DelfinoSimona De SummaMaria Giovanna MaturoTea RoccoGiampaolo TortoraMaria Concetta FargnoliKetty PerisNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Lucia Di Nardo Cristina Pellegrini Alessandro Di Stefani Francesco Ricci Barbara Fossati Laura Del Regno Carmine Carbone Geny Piro Vincenzo Corbo Pietro Delfino Simona De Summa Maria Giovanna Maturo Tea Rocco Giampaolo Tortora Maria Concetta Fargnoli Ketty Peris Molecular alterations in basal cell carcinoma subtypes
description	Abstract A number of genes have been implicated in the pathogenesis of BCC in addition to the Hedgehog pathway, which is known to drive the initiation of this tumour. We performed in-depth analysis of 13 BCC-related genes (CSMD1, CSMD2, DPH3 promoter, PTCH1, SMO, GLI1, NOTCH1, NOTCH2, TP53, ITIH2, DPP10, STEAP4, TERT promoter) in 57 BCC lesions (26 superficial and 31 nodular) from 55 patients and their corresponding blood samples. PTCH1 and TP53 mutations were found in 71.9% and 45.6% of BCCs, respectively. A high mutation rate was also detected in CSMD1 (63.2%), NOTCH1 (43.8%) and DPP10 (35.1%), and frequent non-coding mutations were identified in TERT (57.9%) and DPH3 promoter (49.1%). CSMD1 mutations significantly co-occurred with TP53 changes (p = 0.002). A significant association was observed between the superficial type of BCC and PTCH1 (p = 0.018) and NOTCH1 (p = 0.020) mutations. In addition, PTCH1 mutations were significantly associated with intermittent sun exposure (p = 0.046) and the occurrence of single lesions (p = 0.021), while NOTCH1 mutations were more frequent in BCCs located on the trunk compared to the head/neck and extremities (p = 0.001). In conclusion, we provide further insights into the molecular alterations underlying the tumorigenic mechanism of superficial and nodular BCCs with a view towards novel rationale-based therapeutic strategies.
format	article
author	Lucia Di Nardo Cristina Pellegrini Alessandro Di Stefani Francesco Ricci Barbara Fossati Laura Del Regno Carmine Carbone Geny Piro Vincenzo Corbo Pietro Delfino Simona De Summa Maria Giovanna Maturo Tea Rocco Giampaolo Tortora Maria Concetta Fargnoli Ketty Peris
author_facet	Lucia Di Nardo Cristina Pellegrini Alessandro Di Stefani Francesco Ricci Barbara Fossati Laura Del Regno Carmine Carbone Geny Piro Vincenzo Corbo Pietro Delfino Simona De Summa Maria Giovanna Maturo Tea Rocco Giampaolo Tortora Maria Concetta Fargnoli Ketty Peris
author_sort	Lucia Di Nardo
title	Molecular alterations in basal cell carcinoma subtypes
title_short	Molecular alterations in basal cell carcinoma subtypes
title_full	Molecular alterations in basal cell carcinoma subtypes
title_fullStr	Molecular alterations in basal cell carcinoma subtypes
title_full_unstemmed	Molecular alterations in basal cell carcinoma subtypes
title_sort	molecular alterations in basal cell carcinoma subtypes
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/42184938104c4252943a7b251521a537
work_keys_str_mv	AT luciadinardo molecularalterationsinbasalcellcarcinomasubtypes AT cristinapellegrini molecularalterationsinbasalcellcarcinomasubtypes AT alessandrodistefani molecularalterationsinbasalcellcarcinomasubtypes AT francescoricci molecularalterationsinbasalcellcarcinomasubtypes AT barbarafossati molecularalterationsinbasalcellcarcinomasubtypes AT lauradelregno molecularalterationsinbasalcellcarcinomasubtypes AT carminecarbone molecularalterationsinbasalcellcarcinomasubtypes AT genypiro molecularalterationsinbasalcellcarcinomasubtypes AT vincenzocorbo molecularalterationsinbasalcellcarcinomasubtypes AT pietrodelfino molecularalterationsinbasalcellcarcinomasubtypes AT simonadesumma molecularalterationsinbasalcellcarcinomasubtypes AT mariagiovannamaturo molecularalterationsinbasalcellcarcinomasubtypes AT tearocco molecularalterationsinbasalcellcarcinomasubtypes AT giampaolotortora molecularalterationsinbasalcellcarcinomasubtypes AT mariaconcettafargnoli molecularalterationsinbasalcellcarcinomasubtypes AT kettyperis molecularalterationsinbasalcellcarcinomasubtypes
_version_	1718381372747284480

Molecular alterations in basal cell carcinoma subtypes

Ejemplares similares