Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas

Genomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical management...

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Autores principales:	Miriam Gutiérrez-Jimeno, Piedad Alba-Pavón, Itziar Astigarraga, Teresa Imízcoz, Elena Panizo-Morgado, Susana García-Obregón, Ana Catalán-Lambán, Mikel San-Julián, José M. Lamo-Espinosa, Aizpea Echebarria-Barona, Marta Zalacain, Marta M. Alonso, Ana Patiño-García
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	pediatric sarcomas personalized medicine targeted therapy genomics NGS Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/4447d3df372f48249e0e1c77b05eee9a
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spelling	oai:doaj.org-article:4447d3df372f48249e0e1c77b05eee9a2021-11-11T15:31:47ZClinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas10.3390/cancers132154362072-6694https://doaj.org/article/4447d3df372f48249e0e1c77b05eee9a2021-10-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/21/5436https://doaj.org/toc/2072-6694Genomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical management of pediatric sarcoma patients. We studied 53 pediatric and young adult patients diagnosed with sarcoma, from two Spanish centers. Genomic data were obtained using the Oncomine Childhood Cancer Research Assay, and categorized according to their diagnostic, predictive, or prognostic value. In 44 (83%) of the 53 patients, at least one genetic alteration was identified. In 80% of these patients, the diagnosis was obtained (<i>n</i> = 11) or changed (<i>n</i> = 9), and thus genomic data affected therapy. The most frequent initial misdiagnosis was Ewing’s sarcoma, instead of myxoid liposarcoma (<i>FUS-DDDIT3</i>), rhabdoid soft tissue tumor (<i>SMARCB1</i>), or angiomatoid fibrous histiocytoma (<i>EWSR1-CREB1</i>). In our series, two patients had a genetic alteration with an FDA-approved targeted therapy, and 30% had at least one potentially actionable alteration. NGS-based genomic studies are useful and feasible in diagnosis and clinical management of pediatric sarcomas. Genomic characterization of these rare and heterogeneous tumors also helps in the search for prognostic biomarkers and therapeutic opportunities.Miriam Gutiérrez-JimenoPiedad Alba-PavónItziar AstigarragaTeresa ImízcozElena Panizo-MorgadoSusana García-ObregónAna Catalán-LambánMikel San-JuliánJosé M. Lamo-EspinosaAizpea Echebarria-BaronaMarta ZalacainMarta M. AlonsoAna Patiño-GarcíaMDPI AGarticlepediatric sarcomaspersonalized medicinetargeted therapygenomicsNGSNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5436, p 5436 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pediatric sarcomas personalized medicine targeted therapy genomics NGS Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	pediatric sarcomas personalized medicine targeted therapy genomics NGS Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Miriam Gutiérrez-Jimeno Piedad Alba-Pavón Itziar Astigarraga Teresa Imízcoz Elena Panizo-Morgado Susana García-Obregón Ana Catalán-Lambán Mikel San-Julián José M. Lamo-Espinosa Aizpea Echebarria-Barona Marta Zalacain Marta M. Alonso Ana Patiño-García Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
description	Genomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical management of pediatric sarcoma patients. We studied 53 pediatric and young adult patients diagnosed with sarcoma, from two Spanish centers. Genomic data were obtained using the Oncomine Childhood Cancer Research Assay, and categorized according to their diagnostic, predictive, or prognostic value. In 44 (83%) of the 53 patients, at least one genetic alteration was identified. In 80% of these patients, the diagnosis was obtained (<i>n</i> = 11) or changed (<i>n</i> = 9), and thus genomic data affected therapy. The most frequent initial misdiagnosis was Ewing’s sarcoma, instead of myxoid liposarcoma (<i>FUS-DDDIT3</i>), rhabdoid soft tissue tumor (<i>SMARCB1</i>), or angiomatoid fibrous histiocytoma (<i>EWSR1-CREB1</i>). In our series, two patients had a genetic alteration with an FDA-approved targeted therapy, and 30% had at least one potentially actionable alteration. NGS-based genomic studies are useful and feasible in diagnosis and clinical management of pediatric sarcomas. Genomic characterization of these rare and heterogeneous tumors also helps in the search for prognostic biomarkers and therapeutic opportunities.
format	article
author	Miriam Gutiérrez-Jimeno Piedad Alba-Pavón Itziar Astigarraga Teresa Imízcoz Elena Panizo-Morgado Susana García-Obregón Ana Catalán-Lambán Mikel San-Julián José M. Lamo-Espinosa Aizpea Echebarria-Barona Marta Zalacain Marta M. Alonso Ana Patiño-García
author_facet	Miriam Gutiérrez-Jimeno Piedad Alba-Pavón Itziar Astigarraga Teresa Imízcoz Elena Panizo-Morgado Susana García-Obregón Ana Catalán-Lambán Mikel San-Julián José M. Lamo-Espinosa Aizpea Echebarria-Barona Marta Zalacain Marta M. Alonso Ana Patiño-García
author_sort	Miriam Gutiérrez-Jimeno
title	Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
title_short	Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
title_full	Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
title_fullStr	Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
title_full_unstemmed	Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas
title_sort	clinical value of ngs genomic studies for clinical management of pediatric and young adult bone sarcomas
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/4447d3df372f48249e0e1c77b05eee9a
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Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas

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