Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group

Publication Date:
2018-02-21
Publisher:
Wiley-Blackwell
Print ISSN:
0008-543X
Electronic ISSN:
1097-0142
Topics:
Biology
Medicine
Published by:
_version_ 1836398801932255233
autor Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
beschreibung BACKGROUND Pediatric paired box 3:forkhead box protein O1 fusion–negative (PF–) rhabdomyosarcoma (RMS) represents a diverse spectrum of tumors with marked differences in histology, myogenic differentiation, and clinical behavior. METHODS This study sought to evaluate the clinical and mutational spectrum of 24 pediatric PF– human RMS tumors with high levels of myogenic differentiation. Tumors were sequenced with OncoPanel v.2, a panel consisting of the coding regions of 504 genes previously linked to human cancer. RESULTS Most of the tumors (19 of 24) arose at head/neck or genitourinary sites, and the overall survival rate was 100% with a median follow-up time of 4.6 years (range, 1.4-8.6 years). RAS pathway gene mutations were the most common mutations in PF–, highly differentiated RMS tumors. In addition, Hedgehog (Hh) and mechanistic target of rapamycin (mTOR) gene mutations with evidence for functional relevance (high-impact) were identified in subsets of tumors. The presence of Hh and mTOR pathway gene mutations was mutually exclusive and was associated with high-impact RAS pathway gene mutations in 3 of 4 Hh-mutated tumors and in 1 of 6 mTOR-mutated tumors. CONCLUSIONS Interestingly, Hh and mTOR gene mutations were previously associated with rhabdomyomas, which are also known to preferentially arise at head/neck and genitourinary sites. Findings from this study further support the idea that PF–, highly differentiated RMS tumors and rhabdomyomas may represent a continuous spectrum of tumors. Cancer 2018 . © 2018 American Cancer Society .
citation_standardnr 6169607
datenlieferant ipn_articles
feed_copyright The American Cancer Society
feed_copyright_url http://www.cancer.org/
feed_id 424
feed_publisher Wiley-Blackwell
feed_publisher_url http://www.wiley.com/wiley-blackwell
insertion_date 2018-02-21
journaleissn 1097-0142
journalissn 0008-543X
publikationsjahr_anzeige 2018
publikationsjahr_facette 2018
publikationsjahr_intervall 7984:2015-2019
publikationsjahr_sort 2018
publisher Wiley-Blackwell
quelle Cancer
relation http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fcncr.31286
search_space articles
shingle_author_1 Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
shingle_author_2 Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
shingle_author_3 Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
shingle_author_4 Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
shingle_catch_all_1 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
BACKGROUND Pediatric paired box 3:forkhead box protein O1 fusion–negative (PF–) rhabdomyosarcoma (RMS) represents a diverse spectrum of tumors with marked differences in histology, myogenic differentiation, and clinical behavior. METHODS This study sought to evaluate the clinical and mutational spectrum of 24 pediatric PF– human RMS tumors with high levels of myogenic differentiation. Tumors were sequenced with OncoPanel v.2, a panel consisting of the coding regions of 504 genes previously linked to human cancer. RESULTS Most of the tumors (19 of 24) arose at head/neck or genitourinary sites, and the overall survival rate was 100% with a median follow-up time of 4.6 years (range, 1.4-8.6 years). RAS pathway gene mutations were the most common mutations in PF–, highly differentiated RMS tumors. In addition, Hedgehog (Hh) and mechanistic target of rapamycin (mTOR) gene mutations with evidence for functional relevance (high-impact) were identified in subsets of tumors. The presence of Hh and mTOR pathway gene mutations was mutually exclusive and was associated with high-impact RAS pathway gene mutations in 3 of 4 Hh-mutated tumors and in 1 of 6 mTOR-mutated tumors. CONCLUSIONS Interestingly, Hh and mTOR gene mutations were previously associated with rhabdomyomas, which are also known to preferentially arise at head/neck and genitourinary sites. Findings from this study further support the idea that PF–, highly differentiated RMS tumors and rhabdomyomas may represent a continuous spectrum of tumors. Cancer 2018 . © 2018 American Cancer Society .
Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
Wiley-Blackwell
0008-543X
0008543X
1097-0142
10970142
shingle_catch_all_2 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
BACKGROUND Pediatric paired box 3:forkhead box protein O1 fusion–negative (PF–) rhabdomyosarcoma (RMS) represents a diverse spectrum of tumors with marked differences in histology, myogenic differentiation, and clinical behavior. METHODS This study sought to evaluate the clinical and mutational spectrum of 24 pediatric PF– human RMS tumors with high levels of myogenic differentiation. Tumors were sequenced with OncoPanel v.2, a panel consisting of the coding regions of 504 genes previously linked to human cancer. RESULTS Most of the tumors (19 of 24) arose at head/neck or genitourinary sites, and the overall survival rate was 100% with a median follow-up time of 4.6 years (range, 1.4-8.6 years). RAS pathway gene mutations were the most common mutations in PF–, highly differentiated RMS tumors. In addition, Hedgehog (Hh) and mechanistic target of rapamycin (mTOR) gene mutations with evidence for functional relevance (high-impact) were identified in subsets of tumors. The presence of Hh and mTOR pathway gene mutations was mutually exclusive and was associated with high-impact RAS pathway gene mutations in 3 of 4 Hh-mutated tumors and in 1 of 6 mTOR-mutated tumors. CONCLUSIONS Interestingly, Hh and mTOR gene mutations were previously associated with rhabdomyomas, which are also known to preferentially arise at head/neck and genitourinary sites. Findings from this study further support the idea that PF–, highly differentiated RMS tumors and rhabdomyomas may represent a continuous spectrum of tumors. Cancer 2018 . © 2018 American Cancer Society .
Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
Wiley-Blackwell
0008-543X
0008543X
1097-0142
10970142
shingle_catch_all_3 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
BACKGROUND Pediatric paired box 3:forkhead box protein O1 fusion–negative (PF–) rhabdomyosarcoma (RMS) represents a diverse spectrum of tumors with marked differences in histology, myogenic differentiation, and clinical behavior. METHODS This study sought to evaluate the clinical and mutational spectrum of 24 pediatric PF– human RMS tumors with high levels of myogenic differentiation. Tumors were sequenced with OncoPanel v.2, a panel consisting of the coding regions of 504 genes previously linked to human cancer. RESULTS Most of the tumors (19 of 24) arose at head/neck or genitourinary sites, and the overall survival rate was 100% with a median follow-up time of 4.6 years (range, 1.4-8.6 years). RAS pathway gene mutations were the most common mutations in PF–, highly differentiated RMS tumors. In addition, Hedgehog (Hh) and mechanistic target of rapamycin (mTOR) gene mutations with evidence for functional relevance (high-impact) were identified in subsets of tumors. The presence of Hh and mTOR pathway gene mutations was mutually exclusive and was associated with high-impact RAS pathway gene mutations in 3 of 4 Hh-mutated tumors and in 1 of 6 mTOR-mutated tumors. CONCLUSIONS Interestingly, Hh and mTOR gene mutations were previously associated with rhabdomyomas, which are also known to preferentially arise at head/neck and genitourinary sites. Findings from this study further support the idea that PF–, highly differentiated RMS tumors and rhabdomyomas may represent a continuous spectrum of tumors. Cancer 2018 . © 2018 American Cancer Society .
Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
Wiley-Blackwell
0008-543X
0008543X
1097-0142
10970142
shingle_catch_all_4 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
BACKGROUND Pediatric paired box 3:forkhead box protein O1 fusion–negative (PF–) rhabdomyosarcoma (RMS) represents a diverse spectrum of tumors with marked differences in histology, myogenic differentiation, and clinical behavior. METHODS This study sought to evaluate the clinical and mutational spectrum of 24 pediatric PF– human RMS tumors with high levels of myogenic differentiation. Tumors were sequenced with OncoPanel v.2, a panel consisting of the coding regions of 504 genes previously linked to human cancer. RESULTS Most of the tumors (19 of 24) arose at head/neck or genitourinary sites, and the overall survival rate was 100% with a median follow-up time of 4.6 years (range, 1.4-8.6 years). RAS pathway gene mutations were the most common mutations in PF–, highly differentiated RMS tumors. In addition, Hedgehog (Hh) and mechanistic target of rapamycin (mTOR) gene mutations with evidence for functional relevance (high-impact) were identified in subsets of tumors. The presence of Hh and mTOR pathway gene mutations was mutually exclusive and was associated with high-impact RAS pathway gene mutations in 3 of 4 Hh-mutated tumors and in 1 of 6 mTOR-mutated tumors. CONCLUSIONS Interestingly, Hh and mTOR gene mutations were previously associated with rhabdomyomas, which are also known to preferentially arise at head/neck and genitourinary sites. Findings from this study further support the idea that PF–, highly differentiated RMS tumors and rhabdomyomas may represent a continuous spectrum of tumors. Cancer 2018 . © 2018 American Cancer Society .
Lisa A. Teot, Michaela Schneider, Aaron R. Thorner, Jing Tian, Yueh-Yun Chi, Matthew Ducar, Ling Lin, Marcin Wlodarski, Holcombe E. Grier, Christopher D. M. Fletcher, Paul van Hummelen, Stephen X. Skapek, Douglas S. Hawkins, Amy J. Wagers, Carlos Rodriguez-Galindo, Simone Hettmer
Wiley-Blackwell
0008-543X
0008543X
1097-0142
10970142
shingle_title_1 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
shingle_title_2 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
shingle_title_3 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
shingle_title_4 Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
timestamp 2025-06-30T23:32:51.691Z
titel Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
titel_suche Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion–negative rhabdomyosarcoma: A report from the Children's Oncology Group
topic W
WW-YZ
uid ipn_articles_6169607