Clinical utility of custom-designed NGS panel testing in pediatric tumors

Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report th...
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Autor*in:	Surrey, Lea F. [verfasserIn] MacFarland, Suzanne P. Chang, Fengqi Cao, Kajia Rathi, Komal S. Akgumus, Gozde T. Gallo, Daniel Lin, Fumin Gleason, Adam Raman, Pichai Aplenc, Richard Bagatell, Rochelle Minturn, Jane Mosse, Yael Santi, Mariarita Tasian, Sarah K. Waanders, Angela J. Sarmady, Mahdi Maris, John M. Hunger, Stephen P. Li, Marilyn M.

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Tumor sequencing Molecular profiling Pediatric cancer

Anmerkung:	© The Author(s). 2019

Übergeordnetes Werk:	Enthalten in: Genome medicine - London : BioMed Central, 2009, 11(2019), 1 vom: 28. Mai
Übergeordnetes Werk:	volume:11 ; year:2019 ; number:1 ; day:28 ; month:05

Links:	Volltext

DOI / URN:	10.1186/s13073-019-0644-8

Katalog-ID:	SPR03067221X

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520			\|a Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients.
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allfields	10.1186/s13073-019-0644-8 doi (DE-627)SPR03067221X (SPR)s13073-019-0644-8-e DE-627 ger DE-627 rakwb eng Surrey, Lea F. verfasserin aut Clinical utility of custom-designed NGS panel testing in pediatric tumors 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. Tumor sequencing (dpeaa)DE-He213 Molecular profiling (dpeaa)DE-He213 Pediatric cancer (dpeaa)DE-He213 MacFarland, Suzanne P. aut Chang, Fengqi aut Cao, Kajia aut Rathi, Komal S. aut Akgumus, Gozde T. aut Gallo, Daniel aut Lin, Fumin aut Gleason, Adam aut Raman, Pichai aut Aplenc, Richard aut Bagatell, Rochelle aut Minturn, Jane aut Mosse, Yael aut Santi, Mariarita aut Tasian, Sarah K. aut Waanders, Angela J. aut Sarmady, Mahdi aut Maris, John M. aut Hunger, Stephen P. aut Li, Marilyn M. (orcid)0000-0002-4253-2369 aut Enthalten in Genome medicine London : BioMed Central, 2009 11(2019), 1 vom: 28. Mai (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:11 year:2019 number:1 day:28 month:05 https://dx.doi.org/10.1186/s13073-019-0644-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2019 1 28 05
spelling	10.1186/s13073-019-0644-8 doi (DE-627)SPR03067221X (SPR)s13073-019-0644-8-e DE-627 ger DE-627 rakwb eng Surrey, Lea F. verfasserin aut Clinical utility of custom-designed NGS panel testing in pediatric tumors 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. Tumor sequencing (dpeaa)DE-He213 Molecular profiling (dpeaa)DE-He213 Pediatric cancer (dpeaa)DE-He213 MacFarland, Suzanne P. aut Chang, Fengqi aut Cao, Kajia aut Rathi, Komal S. aut Akgumus, Gozde T. aut Gallo, Daniel aut Lin, Fumin aut Gleason, Adam aut Raman, Pichai aut Aplenc, Richard aut Bagatell, Rochelle aut Minturn, Jane aut Mosse, Yael aut Santi, Mariarita aut Tasian, Sarah K. aut Waanders, Angela J. aut Sarmady, Mahdi aut Maris, John M. aut Hunger, Stephen P. aut Li, Marilyn M. (orcid)0000-0002-4253-2369 aut Enthalten in Genome medicine London : BioMed Central, 2009 11(2019), 1 vom: 28. Mai (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:11 year:2019 number:1 day:28 month:05 https://dx.doi.org/10.1186/s13073-019-0644-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2019 1 28 05
allfields_unstemmed	10.1186/s13073-019-0644-8 doi (DE-627)SPR03067221X (SPR)s13073-019-0644-8-e DE-627 ger DE-627 rakwb eng Surrey, Lea F. verfasserin aut Clinical utility of custom-designed NGS panel testing in pediatric tumors 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. Tumor sequencing (dpeaa)DE-He213 Molecular profiling (dpeaa)DE-He213 Pediatric cancer (dpeaa)DE-He213 MacFarland, Suzanne P. aut Chang, Fengqi aut Cao, Kajia aut Rathi, Komal S. aut Akgumus, Gozde T. aut Gallo, Daniel aut Lin, Fumin aut Gleason, Adam aut Raman, Pichai aut Aplenc, Richard aut Bagatell, Rochelle aut Minturn, Jane aut Mosse, Yael aut Santi, Mariarita aut Tasian, Sarah K. aut Waanders, Angela J. aut Sarmady, Mahdi aut Maris, John M. aut Hunger, Stephen P. aut Li, Marilyn M. (orcid)0000-0002-4253-2369 aut Enthalten in Genome medicine London : BioMed Central, 2009 11(2019), 1 vom: 28. Mai (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:11 year:2019 number:1 day:28 month:05 https://dx.doi.org/10.1186/s13073-019-0644-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2019 1 28 05
allfieldsGer	10.1186/s13073-019-0644-8 doi (DE-627)SPR03067221X (SPR)s13073-019-0644-8-e DE-627 ger DE-627 rakwb eng Surrey, Lea F. verfasserin aut Clinical utility of custom-designed NGS panel testing in pediatric tumors 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. Tumor sequencing (dpeaa)DE-He213 Molecular profiling (dpeaa)DE-He213 Pediatric cancer (dpeaa)DE-He213 MacFarland, Suzanne P. aut Chang, Fengqi aut Cao, Kajia aut Rathi, Komal S. aut Akgumus, Gozde T. aut Gallo, Daniel aut Lin, Fumin aut Gleason, Adam aut Raman, Pichai aut Aplenc, Richard aut Bagatell, Rochelle aut Minturn, Jane aut Mosse, Yael aut Santi, Mariarita aut Tasian, Sarah K. aut Waanders, Angela J. aut Sarmady, Mahdi aut Maris, John M. aut Hunger, Stephen P. aut Li, Marilyn M. (orcid)0000-0002-4253-2369 aut Enthalten in Genome medicine London : BioMed Central, 2009 11(2019), 1 vom: 28. Mai (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:11 year:2019 number:1 day:28 month:05 https://dx.doi.org/10.1186/s13073-019-0644-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2019 1 28 05
allfieldsSound	10.1186/s13073-019-0644-8 doi (DE-627)SPR03067221X (SPR)s13073-019-0644-8-e DE-627 ger DE-627 rakwb eng Surrey, Lea F. verfasserin aut Clinical utility of custom-designed NGS panel testing in pediatric tumors 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. Tumor sequencing (dpeaa)DE-He213 Molecular profiling (dpeaa)DE-He213 Pediatric cancer (dpeaa)DE-He213 MacFarland, Suzanne P. aut Chang, Fengqi aut Cao, Kajia aut Rathi, Komal S. aut Akgumus, Gozde T. aut Gallo, Daniel aut Lin, Fumin aut Gleason, Adam aut Raman, Pichai aut Aplenc, Richard aut Bagatell, Rochelle aut Minturn, Jane aut Mosse, Yael aut Santi, Mariarita aut Tasian, Sarah K. aut Waanders, Angela J. aut Sarmady, Mahdi aut Maris, John M. aut Hunger, Stephen P. aut Li, Marilyn M. (orcid)0000-0002-4253-2369 aut Enthalten in Genome medicine London : BioMed Central, 2009 11(2019), 1 vom: 28. Mai (DE-627)594424275 (DE-600)2484394-5 1756-994X nnns volume:11 year:2019 number:1 day:28 month:05 https://dx.doi.org/10.1186/s13073-019-0644-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2019 1 28 05
language	English
source	Enthalten in Genome medicine 11(2019), 1 vom: 28. Mai volume:11 year:2019 number:1 day:28 month:05
sourceStr	Enthalten in Genome medicine 11(2019), 1 vom: 28. Mai volume:11 year:2019 number:1 day:28 month:05
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Tumor sequencing Molecular profiling Pediatric cancer
isfreeaccess_bool	true
container_title	Genome medicine
authorswithroles_txt_mv	Surrey, Lea F. @@aut@@ MacFarland, Suzanne P. @@aut@@ Chang, Fengqi @@aut@@ Cao, Kajia @@aut@@ Rathi, Komal S. @@aut@@ Akgumus, Gozde T. @@aut@@ Gallo, Daniel @@aut@@ Lin, Fumin @@aut@@ Gleason, Adam @@aut@@ Raman, Pichai @@aut@@ Aplenc, Richard @@aut@@ Bagatell, Rochelle @@aut@@ Minturn, Jane @@aut@@ Mosse, Yael @@aut@@ Santi, Mariarita @@aut@@ Tasian, Sarah K. @@aut@@ Waanders, Angela J. @@aut@@ Sarmady, Mahdi @@aut@@ Maris, John M. @@aut@@ Hunger, Stephen P. @@aut@@ Li, Marilyn M. @@aut@@
publishDateDaySort_date	2019-05-28T00:00:00Z
hierarchy_top_id	594424275
id	SPR03067221X
language_de	englisch
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author	Surrey, Lea F.
spellingShingle	Surrey, Lea F. misc Tumor sequencing misc Molecular profiling misc Pediatric cancer Clinical utility of custom-designed NGS panel testing in pediatric tumors
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topic_title	Clinical utility of custom-designed NGS panel testing in pediatric tumors Tumor sequencing (dpeaa)DE-He213 Molecular profiling (dpeaa)DE-He213 Pediatric cancer (dpeaa)DE-He213
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title	Clinical utility of custom-designed NGS panel testing in pediatric tumors
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title_full	Clinical utility of custom-designed NGS panel testing in pediatric tumors
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author_browse	Surrey, Lea F. MacFarland, Suzanne P. Chang, Fengqi Cao, Kajia Rathi, Komal S. Akgumus, Gozde T. Gallo, Daniel Lin, Fumin Gleason, Adam Raman, Pichai Aplenc, Richard Bagatell, Rochelle Minturn, Jane Mosse, Yael Santi, Mariarita Tasian, Sarah K. Waanders, Angela J. Sarmady, Mahdi Maris, John M. Hunger, Stephen P. Li, Marilyn M.
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title_sort	clinical utility of custom-designed ngs panel testing in pediatric tumors
title_auth	Clinical utility of custom-designed NGS panel testing in pediatric tumors
abstract	Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. © The Author(s). 2019
abstractGer	Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. © The Author(s). 2019
abstract_unstemmed	Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers. Methods Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed. Results NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration. Conclusions Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients. © The Author(s). 2019
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title_short	Clinical utility of custom-designed NGS panel testing in pediatric tumors
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author2	MacFarland, Suzanne P. Chang, Fengqi Cao, Kajia Rathi, Komal S. Akgumus, Gozde T. Gallo, Daniel Lin, Fumin Gleason, Adam Raman, Pichai Aplenc, Richard Bagatell, Rochelle Minturn, Jane Mosse, Yael Santi, Mariarita Tasian, Sarah K. Waanders, Angela J. Sarmady, Mahdi Maris, John M. Hunger, Stephen P. Li, Marilyn M.
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