NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS

Objective: Pediatric glial tumors comprise wide range pathologies which may mimic histomorphological features of each other's but generally have very diverse disease course. WHO Classification of Tumors of Central Nervous System (2016 and 2021) points to the necessity of investigating several m...

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Autores principales:	Ayça Erşen Danyeli, Cengiz Yakıcıer, Bahattin Tanrıkulu, Cengiz Canpolat, M. Memet Özek
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/881ea9405b304f34a4816eb35c809fde
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spelling	oai:doaj.org-article:881ea9405b304f34a4816eb35c809fde2021-11-10T04:34:02ZNECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS2531-137910.1016/j.htct.2021.10.1002https://doaj.org/article/881ea9405b304f34a4816eb35c809fde2021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921011494https://doaj.org/toc/2531-1379Objective: Pediatric glial tumors comprise wide range pathologies which may mimic histomorphological features of each other's but generally have very diverse disease course. WHO Classification of Tumors of Central Nervous System (2016 and 2021) points to the necessity of investigating several molecular alterations for integrated pathological diagnosis of childhood CNS tumors. This makes customized next-generation sequencing (NGS) a powerful tool for the diagnosis of childhood CNS tumors. Methodology: Acıbadem Molecular Pathology Brain Tumor NGS Panel was designed according to targeted deep RNA and DNA sequencing. RNA and DNA were isolated from paraffin blocks containing more than 50% tumor in 45 cases with childhood CNS tumors. Miniseq Sequencıng System, Illumına and Archer Analysıs Ver 6.0.3.2 platforms were used. Fusions (translocations), mutations, and DNA copy number changes in 81 genes were screened for the most common molecular alterations in CNS tumors. Results: Fourty-five childhood CNS tumors were evaluated with NGS results. Among these there were 19 pilocytic astrocytomas, 1 case of high grade astrocytoma with piloid features, 4 diffuse leptomeningeal glioneuronal tumors, 1 pleomorphic xanthoastrocytoma, 4 pediatric diffuse glial tumors, 1 infantile hemispheric astrocytoma, 1 astroblastoma, 12 diffuse midline glioma. Sixteen of these tumors were able to be diagnosed based on these molecular findings. Thirty-four cases received targeted therapies. Conclusion: The customized NGS panel, as a single molecular workflow is very helpful and supportive in diagnosis for CNS childhood tumors. Since the number of driver mutations are few in childhood tumors, detection of the driver molecular alteration is guiding the medical treatment startegy in terms of targeted regimens.Ayça Erşen DanyeliCengiz YakıcıerBahattin TanrıkuluCengiz CanpolatM. Memet ÖzekElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S29- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Ayça Erşen Danyeli Cengiz Yakıcıer Bahattin Tanrıkulu Cengiz Canpolat M. Memet Özek NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS
description	Objective: Pediatric glial tumors comprise wide range pathologies which may mimic histomorphological features of each other's but generally have very diverse disease course. WHO Classification of Tumors of Central Nervous System (2016 and 2021) points to the necessity of investigating several molecular alterations for integrated pathological diagnosis of childhood CNS tumors. This makes customized next-generation sequencing (NGS) a powerful tool for the diagnosis of childhood CNS tumors. Methodology: Acıbadem Molecular Pathology Brain Tumor NGS Panel was designed according to targeted deep RNA and DNA sequencing. RNA and DNA were isolated from paraffin blocks containing more than 50% tumor in 45 cases with childhood CNS tumors. Miniseq Sequencıng System, Illumına and Archer Analysıs Ver 6.0.3.2 platforms were used. Fusions (translocations), mutations, and DNA copy number changes in 81 genes were screened for the most common molecular alterations in CNS tumors. Results: Fourty-five childhood CNS tumors were evaluated with NGS results. Among these there were 19 pilocytic astrocytomas, 1 case of high grade astrocytoma with piloid features, 4 diffuse leptomeningeal glioneuronal tumors, 1 pleomorphic xanthoastrocytoma, 4 pediatric diffuse glial tumors, 1 infantile hemispheric astrocytoma, 1 astroblastoma, 12 diffuse midline glioma. Sixteen of these tumors were able to be diagnosed based on these molecular findings. Thirty-four cases received targeted therapies. Conclusion: The customized NGS panel, as a single molecular workflow is very helpful and supportive in diagnosis for CNS childhood tumors. Since the number of driver mutations are few in childhood tumors, detection of the driver molecular alteration is guiding the medical treatment startegy in terms of targeted regimens.
format	article
author	Ayça Erşen Danyeli Cengiz Yakıcıer Bahattin Tanrıkulu Cengiz Canpolat M. Memet Özek
author_facet	Ayça Erşen Danyeli Cengiz Yakıcıer Bahattin Tanrıkulu Cengiz Canpolat M. Memet Özek
author_sort	Ayça Erşen Danyeli
title	NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS
title_short	NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS
title_full	NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS
title_fullStr	NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS
title_full_unstemmed	NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS
title_sort	necessity for a customized ngs panel for accurate diagnosis and targeted therapies in pediatric glial tumors
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/881ea9405b304f34a4816eb35c809fde
work_keys_str_mv	AT aycaersendanyeli necessityforacustomizedngspanelforaccuratediagnosisandtargetedtherapiesinpediatricglialtumors AT cengizyakıcıer necessityforacustomizedngspanelforaccuratediagnosisandtargetedtherapiesinpediatricglialtumors AT bahattintanrıkulu necessityforacustomizedngspanelforaccuratediagnosisandtargetedtherapiesinpediatricglialtumors AT cengizcanpolat necessityforacustomizedngspanelforaccuratediagnosisandtargetedtherapiesinpediatricglialtumors AT mmemetozek necessityforacustomizedngspanelforaccuratediagnosisandtargetedtherapiesinpediatricglialtumors
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NECESSITY FOR A CUSTOMIZED NGS PANEL FOR ACCURATE DIAGNOSIS AND TARGETED THERAPIES IN PEDIATRIC GLIAL TUMORS

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