Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study
Purpose Medulloblastoma is the most frequent pediatric malignant brain tumor, and is divided into four main subgroups: WNT, SHH, group 3, and group 4. MYCN amplification is an important medulloblastoma prognostic biomarker. We aimed to molecular classify and predict MYCN amplification in a single as...
Gespeichert in:
Veröffentlicht in: | Journal of neuro-oncology 2022-03, Vol.157 (1), p.27-35 |
---|---|
Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 35 |
---|---|
container_issue | 1 |
container_start_page | 27 |
container_title | Journal of neuro-oncology |
container_volume | 157 |
creator | Moreno, Daniel Antunes da Silva, Luciane Sussuchi Zanon, Maicon Fernando Bonatelli, Murilo de Paula, Flávia Escremim de Medeiros Matsushita, Marcus Teixeira, Gustavo Ramos Santana, Iara Viana Vidigal Saggioro, Fabiano Neder, Luciano Stavale, João N. Malheiros, Suzana Maria Fleury Lima, Matheus Hajj, Glaucia Noeli Maroso Garcia-Rivello, Hernan Christiansen, Silvia Nunes, Susana da Costa, Maria João Gil Soares, Maria José Pinheiro, Jorge Junior, Carlos Almeida Mançano, Bruna Minniti Reis, Rui Manuel |
description | Purpose
Medulloblastoma is the most frequent pediatric malignant brain tumor, and is divided into four main subgroups: WNT, SHH, group 3, and group 4.
MYCN
amplification is an important medulloblastoma prognostic biomarker. We aimed to molecular classify and predict
MYCN
amplification in a single assay.
Methods
It was included 209 medulloblastomas from 205 patients (Brazil, Argentina, and Portugal), divided into training (
n
= 50) and validation (
n
= 159) sets. A nCounter assay was carried out using a custom panel for molecular classification, with additional genes, including
MYCN
. nSolver 4.0 software and the R environment were used for profiling and
MYCN
mRNA analysis.
MYCN
amplification by FISH was performed in 64 cases.
Results
The 205 medulloblastomas were classified in SHH (44.9%), WNT (15.6%), group 3 (18.1%) and group 4 (21.4%). In the training set,
MYCN
amplification was detected in three SHH medulloblastomas by FISH, which showed significantly higher
MYCN
mRNA counts than non-FISH amplified cases, and a cutoff for MYCN amplification was established (
X
¯
+ 4σ = 11,124.3). Applying this threshold value in the validation set, we identified
MYCN
mRNA counts above the cutoff in three cases, which were FISH validated.
Conclusion
We successfully stratified medulloblastoma molecular subgroups and predicted
MYCN
amplification using a single nCounter assay without the requirement of additional biological tissue, costs, or bench time. |
doi_str_mv | 10.1007/s11060-022-03965-1 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2629060702</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2629060702</sourcerecordid><originalsourceid>FETCH-LOGICAL-c424t-8388a1d9d9e7c6dc034405e618086fdbd1fa8cf0759dd2cb9ef86f757a980df53</originalsourceid><addsrcrecordid>eNp9kc2OFCEUhYnROD2tL-DCkLhxU3qBKijcmY6OJqMu1ERXhOZnwoSCFopFL31zcXp0EheyIbnnOwdyD0JPCLwgAOJlJQQ4DEDpAEzyaSD30IZMgg2CCXYfbYBwMUxy_HaGzmu9BoBRMPIQnbGJcC5nuUE_P4d0FR1Ou9zS6grWteoj9rngQ3E2mDXkhLPHH77vPmK9HGLwweibqU4WLzk606Iu2MRuvRO7ZXG2xZj3XVjzousrrPHS4hqMS2sJBte12eMj9MDrWN3j23uLvr5982X3brj8dPF-9_pyMCMd12Fm86yJlVY6Ybg1wMYRJsfJDDP3dm-J17PxICZpLTV76Xyfi0loOYP1E9ui56fcQ8k_mqurWkI1LkadXG5VUU5lX6cA2tFn_6DXuZXUf9epkVA2sn62iJ4oU3KtxXl1KGHR5agIqN8FqVNBqhekbgpSpJue3ka3fd_PX8ufRjrATkDtUrpy5e7t_8T-Aifrncg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2641234333</pqid></control><display><type>article</type><title>Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study</title><source>SpringerNature Journals</source><creator>Moreno, Daniel Antunes ; da Silva, Luciane Sussuchi ; Zanon, Maicon Fernando ; Bonatelli, Murilo ; de Paula, Flávia Escremim ; de Medeiros Matsushita, Marcus ; Teixeira, Gustavo Ramos ; Santana, Iara Viana Vidigal ; Saggioro, Fabiano ; Neder, Luciano ; Stavale, João N. ; Malheiros, Suzana Maria Fleury ; Lima, Matheus ; Hajj, Glaucia Noeli Maroso ; Garcia-Rivello, Hernan ; Christiansen, Silvia ; Nunes, Susana ; da Costa, Maria João Gil ; Soares, Maria José ; Pinheiro, Jorge ; Junior, Carlos Almeida ; Mançano, Bruna Minniti ; Reis, Rui Manuel</creator><creatorcontrib>Moreno, Daniel Antunes ; da Silva, Luciane Sussuchi ; Zanon, Maicon Fernando ; Bonatelli, Murilo ; de Paula, Flávia Escremim ; de Medeiros Matsushita, Marcus ; Teixeira, Gustavo Ramos ; Santana, Iara Viana Vidigal ; Saggioro, Fabiano ; Neder, Luciano ; Stavale, João N. ; Malheiros, Suzana Maria Fleury ; Lima, Matheus ; Hajj, Glaucia Noeli Maroso ; Garcia-Rivello, Hernan ; Christiansen, Silvia ; Nunes, Susana ; da Costa, Maria João Gil ; Soares, Maria José ; Pinheiro, Jorge ; Junior, Carlos Almeida ; Mançano, Bruna Minniti ; Reis, Rui Manuel</creatorcontrib><description>Purpose
Medulloblastoma is the most frequent pediatric malignant brain tumor, and is divided into four main subgroups: WNT, SHH, group 3, and group 4.
MYCN
amplification is an important medulloblastoma prognostic biomarker. We aimed to molecular classify and predict
MYCN
amplification in a single assay.
Methods
It was included 209 medulloblastomas from 205 patients (Brazil, Argentina, and Portugal), divided into training (
n
= 50) and validation (
n
= 159) sets. A nCounter assay was carried out using a custom panel for molecular classification, with additional genes, including
MYCN
. nSolver 4.0 software and the R environment were used for profiling and
MYCN
mRNA analysis.
MYCN
amplification by FISH was performed in 64 cases.
Results
The 205 medulloblastomas were classified in SHH (44.9%), WNT (15.6%), group 3 (18.1%) and group 4 (21.4%). In the training set,
MYCN
amplification was detected in three SHH medulloblastomas by FISH, which showed significantly higher
MYCN
mRNA counts than non-FISH amplified cases, and a cutoff for MYCN amplification was established (
X
¯
+ 4σ = 11,124.3). Applying this threshold value in the validation set, we identified
MYCN
mRNA counts above the cutoff in three cases, which were FISH validated.
Conclusion
We successfully stratified medulloblastoma molecular subgroups and predicted
MYCN
amplification using a single nCounter assay without the requirement of additional biological tissue, costs, or bench time.</description><identifier>ISSN: 0167-594X</identifier><identifier>EISSN: 1573-7373</identifier><identifier>DOI: 10.1007/s11060-022-03965-1</identifier><identifier>PMID: 35166989</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Brain cancer ; Brain tumors ; Cell cycle ; Classification ; Dehydrogenases ; Gene amplification ; Gene expression ; Genetic engineering ; Health sciences ; Hospitals ; Hybridization ; Laboratories ; Laboratory Investigation ; Medicine ; Medicine & Public Health ; Medulloblastoma ; mRNA ; Neurology ; Oncology ; Pathology ; Pediatrics ; Wnt protein</subject><ispartof>Journal of neuro-oncology, 2022-03, Vol.157 (1), p.27-35</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022</rights><rights>2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c424t-8388a1d9d9e7c6dc034405e618086fdbd1fa8cf0759dd2cb9ef86f757a980df53</citedby><cites>FETCH-LOGICAL-c424t-8388a1d9d9e7c6dc034405e618086fdbd1fa8cf0759dd2cb9ef86f757a980df53</cites><orcidid>0000-0002-9639-7940</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11060-022-03965-1$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11060-022-03965-1$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,782,786,27933,27934,41497,42566,51328</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35166989$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Moreno, Daniel Antunes</creatorcontrib><creatorcontrib>da Silva, Luciane Sussuchi</creatorcontrib><creatorcontrib>Zanon, Maicon Fernando</creatorcontrib><creatorcontrib>Bonatelli, Murilo</creatorcontrib><creatorcontrib>de Paula, Flávia Escremim</creatorcontrib><creatorcontrib>de Medeiros Matsushita, Marcus</creatorcontrib><creatorcontrib>Teixeira, Gustavo Ramos</creatorcontrib><creatorcontrib>Santana, Iara Viana Vidigal</creatorcontrib><creatorcontrib>Saggioro, Fabiano</creatorcontrib><creatorcontrib>Neder, Luciano</creatorcontrib><creatorcontrib>Stavale, João N.</creatorcontrib><creatorcontrib>Malheiros, Suzana Maria Fleury</creatorcontrib><creatorcontrib>Lima, Matheus</creatorcontrib><creatorcontrib>Hajj, Glaucia Noeli Maroso</creatorcontrib><creatorcontrib>Garcia-Rivello, Hernan</creatorcontrib><creatorcontrib>Christiansen, Silvia</creatorcontrib><creatorcontrib>Nunes, Susana</creatorcontrib><creatorcontrib>da Costa, Maria João Gil</creatorcontrib><creatorcontrib>Soares, Maria José</creatorcontrib><creatorcontrib>Pinheiro, Jorge</creatorcontrib><creatorcontrib>Junior, Carlos Almeida</creatorcontrib><creatorcontrib>Mançano, Bruna Minniti</creatorcontrib><creatorcontrib>Reis, Rui Manuel</creatorcontrib><title>Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study</title><title>Journal of neuro-oncology</title><addtitle>J Neurooncol</addtitle><addtitle>J Neurooncol</addtitle><description>Purpose
Medulloblastoma is the most frequent pediatric malignant brain tumor, and is divided into four main subgroups: WNT, SHH, group 3, and group 4.
MYCN
amplification is an important medulloblastoma prognostic biomarker. We aimed to molecular classify and predict
MYCN
amplification in a single assay.
Methods
It was included 209 medulloblastomas from 205 patients (Brazil, Argentina, and Portugal), divided into training (
n
= 50) and validation (
n
= 159) sets. A nCounter assay was carried out using a custom panel for molecular classification, with additional genes, including
MYCN
. nSolver 4.0 software and the R environment were used for profiling and
MYCN
mRNA analysis.
MYCN
amplification by FISH was performed in 64 cases.
Results
The 205 medulloblastomas were classified in SHH (44.9%), WNT (15.6%), group 3 (18.1%) and group 4 (21.4%). In the training set,
MYCN
amplification was detected in three SHH medulloblastomas by FISH, which showed significantly higher
MYCN
mRNA counts than non-FISH amplified cases, and a cutoff for MYCN amplification was established (
X
¯
+ 4σ = 11,124.3). Applying this threshold value in the validation set, we identified
MYCN
mRNA counts above the cutoff in three cases, which were FISH validated.
Conclusion
We successfully stratified medulloblastoma molecular subgroups and predicted
MYCN
amplification using a single nCounter assay without the requirement of additional biological tissue, costs, or bench time.</description><subject>Brain cancer</subject><subject>Brain tumors</subject><subject>Cell cycle</subject><subject>Classification</subject><subject>Dehydrogenases</subject><subject>Gene amplification</subject><subject>Gene expression</subject><subject>Genetic engineering</subject><subject>Health sciences</subject><subject>Hospitals</subject><subject>Hybridization</subject><subject>Laboratories</subject><subject>Laboratory Investigation</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Medulloblastoma</subject><subject>mRNA</subject><subject>Neurology</subject><subject>Oncology</subject><subject>Pathology</subject><subject>Pediatrics</subject><subject>Wnt protein</subject><issn>0167-594X</issn><issn>1573-7373</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kc2OFCEUhYnROD2tL-DCkLhxU3qBKijcmY6OJqMu1ERXhOZnwoSCFopFL31zcXp0EheyIbnnOwdyD0JPCLwgAOJlJQQ4DEDpAEzyaSD30IZMgg2CCXYfbYBwMUxy_HaGzmu9BoBRMPIQnbGJcC5nuUE_P4d0FR1Ou9zS6grWteoj9rngQ3E2mDXkhLPHH77vPmK9HGLwweibqU4WLzk606Iu2MRuvRO7ZXG2xZj3XVjzousrrPHS4hqMS2sJBte12eMj9MDrWN3j23uLvr5982X3brj8dPF-9_pyMCMd12Fm86yJlVY6Ybg1wMYRJsfJDDP3dm-J17PxICZpLTV76Xyfi0loOYP1E9ui56fcQ8k_mqurWkI1LkadXG5VUU5lX6cA2tFn_6DXuZXUf9epkVA2sn62iJ4oU3KtxXl1KGHR5agIqN8FqVNBqhekbgpSpJue3ka3fd_PX8ufRjrATkDtUrpy5e7t_8T-Aifrncg</recordid><startdate>20220301</startdate><enddate>20220301</enddate><creator>Moreno, Daniel Antunes</creator><creator>da Silva, Luciane Sussuchi</creator><creator>Zanon, Maicon Fernando</creator><creator>Bonatelli, Murilo</creator><creator>de Paula, Flávia Escremim</creator><creator>de Medeiros Matsushita, Marcus</creator><creator>Teixeira, Gustavo Ramos</creator><creator>Santana, Iara Viana Vidigal</creator><creator>Saggioro, Fabiano</creator><creator>Neder, Luciano</creator><creator>Stavale, João N.</creator><creator>Malheiros, Suzana Maria Fleury</creator><creator>Lima, Matheus</creator><creator>Hajj, Glaucia Noeli Maroso</creator><creator>Garcia-Rivello, Hernan</creator><creator>Christiansen, Silvia</creator><creator>Nunes, Susana</creator><creator>da Costa, Maria João Gil</creator><creator>Soares, Maria José</creator><creator>Pinheiro, Jorge</creator><creator>Junior, Carlos Almeida</creator><creator>Mançano, Bruna Minniti</creator><creator>Reis, Rui Manuel</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9639-7940</orcidid></search><sort><creationdate>20220301</creationdate><title>Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study</title><author>Moreno, Daniel Antunes ; da Silva, Luciane Sussuchi ; Zanon, Maicon Fernando ; Bonatelli, Murilo ; de Paula, Flávia Escremim ; de Medeiros Matsushita, Marcus ; Teixeira, Gustavo Ramos ; Santana, Iara Viana Vidigal ; Saggioro, Fabiano ; Neder, Luciano ; Stavale, João N. ; Malheiros, Suzana Maria Fleury ; Lima, Matheus ; Hajj, Glaucia Noeli Maroso ; Garcia-Rivello, Hernan ; Christiansen, Silvia ; Nunes, Susana ; da Costa, Maria João Gil ; Soares, Maria José ; Pinheiro, Jorge ; Junior, Carlos Almeida ; Mançano, Bruna Minniti ; Reis, Rui Manuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c424t-8388a1d9d9e7c6dc034405e618086fdbd1fa8cf0759dd2cb9ef86f757a980df53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Brain cancer</topic><topic>Brain tumors</topic><topic>Cell cycle</topic><topic>Classification</topic><topic>Dehydrogenases</topic><topic>Gene amplification</topic><topic>Gene expression</topic><topic>Genetic engineering</topic><topic>Health sciences</topic><topic>Hospitals</topic><topic>Hybridization</topic><topic>Laboratories</topic><topic>Laboratory Investigation</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Medulloblastoma</topic><topic>mRNA</topic><topic>Neurology</topic><topic>Oncology</topic><topic>Pathology</topic><topic>Pediatrics</topic><topic>Wnt protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Moreno, Daniel Antunes</creatorcontrib><creatorcontrib>da Silva, Luciane Sussuchi</creatorcontrib><creatorcontrib>Zanon, Maicon Fernando</creatorcontrib><creatorcontrib>Bonatelli, Murilo</creatorcontrib><creatorcontrib>de Paula, Flávia Escremim</creatorcontrib><creatorcontrib>de Medeiros Matsushita, Marcus</creatorcontrib><creatorcontrib>Teixeira, Gustavo Ramos</creatorcontrib><creatorcontrib>Santana, Iara Viana Vidigal</creatorcontrib><creatorcontrib>Saggioro, Fabiano</creatorcontrib><creatorcontrib>Neder, Luciano</creatorcontrib><creatorcontrib>Stavale, João N.</creatorcontrib><creatorcontrib>Malheiros, Suzana Maria Fleury</creatorcontrib><creatorcontrib>Lima, Matheus</creatorcontrib><creatorcontrib>Hajj, Glaucia Noeli Maroso</creatorcontrib><creatorcontrib>Garcia-Rivello, Hernan</creatorcontrib><creatorcontrib>Christiansen, Silvia</creatorcontrib><creatorcontrib>Nunes, Susana</creatorcontrib><creatorcontrib>da Costa, Maria João Gil</creatorcontrib><creatorcontrib>Soares, Maria José</creatorcontrib><creatorcontrib>Pinheiro, Jorge</creatorcontrib><creatorcontrib>Junior, Carlos Almeida</creatorcontrib><creatorcontrib>Mançano, Bruna Minniti</creatorcontrib><creatorcontrib>Reis, Rui Manuel</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neuro-oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Moreno, Daniel Antunes</au><au>da Silva, Luciane Sussuchi</au><au>Zanon, Maicon Fernando</au><au>Bonatelli, Murilo</au><au>de Paula, Flávia Escremim</au><au>de Medeiros Matsushita, Marcus</au><au>Teixeira, Gustavo Ramos</au><au>Santana, Iara Viana Vidigal</au><au>Saggioro, Fabiano</au><au>Neder, Luciano</au><au>Stavale, João N.</au><au>Malheiros, Suzana Maria Fleury</au><au>Lima, Matheus</au><au>Hajj, Glaucia Noeli Maroso</au><au>Garcia-Rivello, Hernan</au><au>Christiansen, Silvia</au><au>Nunes, Susana</au><au>da Costa, Maria João Gil</au><au>Soares, Maria José</au><au>Pinheiro, Jorge</au><au>Junior, Carlos Almeida</au><au>Mançano, Bruna Minniti</au><au>Reis, Rui Manuel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study</atitle><jtitle>Journal of neuro-oncology</jtitle><stitle>J Neurooncol</stitle><addtitle>J Neurooncol</addtitle><date>2022-03-01</date><risdate>2022</risdate><volume>157</volume><issue>1</issue><spage>27</spage><epage>35</epage><pages>27-35</pages><issn>0167-594X</issn><eissn>1573-7373</eissn><abstract>Purpose
Medulloblastoma is the most frequent pediatric malignant brain tumor, and is divided into four main subgroups: WNT, SHH, group 3, and group 4.
MYCN
amplification is an important medulloblastoma prognostic biomarker. We aimed to molecular classify and predict
MYCN
amplification in a single assay.
Methods
It was included 209 medulloblastomas from 205 patients (Brazil, Argentina, and Portugal), divided into training (
n
= 50) and validation (
n
= 159) sets. A nCounter assay was carried out using a custom panel for molecular classification, with additional genes, including
MYCN
. nSolver 4.0 software and the R environment were used for profiling and
MYCN
mRNA analysis.
MYCN
amplification by FISH was performed in 64 cases.
Results
The 205 medulloblastomas were classified in SHH (44.9%), WNT (15.6%), group 3 (18.1%) and group 4 (21.4%). In the training set,
MYCN
amplification was detected in three SHH medulloblastomas by FISH, which showed significantly higher
MYCN
mRNA counts than non-FISH amplified cases, and a cutoff for MYCN amplification was established (
X
¯
+ 4σ = 11,124.3). Applying this threshold value in the validation set, we identified
MYCN
mRNA counts above the cutoff in three cases, which were FISH validated.
Conclusion
We successfully stratified medulloblastoma molecular subgroups and predicted
MYCN
amplification using a single nCounter assay without the requirement of additional biological tissue, costs, or bench time.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>35166989</pmid><doi>10.1007/s11060-022-03965-1</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-9639-7940</orcidid></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0167-594X |
ispartof | Journal of neuro-oncology, 2022-03, Vol.157 (1), p.27-35 |
issn | 0167-594X 1573-7373 |
language | eng |
recordid | cdi_proquest_miscellaneous_2629060702 |
source | SpringerNature Journals |
subjects | Brain cancer Brain tumors Cell cycle Classification Dehydrogenases Gene amplification Gene expression Genetic engineering Health sciences Hospitals Hybridization Laboratories Laboratory Investigation Medicine Medicine & Public Health Medulloblastoma mRNA Neurology Oncology Pathology Pediatrics Wnt protein |
title | Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-02T05%3A53%3A15IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Single%20nCounter%20assay%20for%20prediction%20of%20MYCN%20amplification%20and%20molecular%20classification%20of%20medulloblastomas:%20a%20multicentric%20study&rft.jtitle=Journal%20of%20neuro-oncology&rft.au=Moreno,%20Daniel%20Antunes&rft.date=2022-03-01&rft.volume=157&rft.issue=1&rft.spage=27&rft.epage=35&rft.pages=27-35&rft.issn=0167-594X&rft.eissn=1573-7373&rft_id=info:doi/10.1007/s11060-022-03965-1&rft_dat=%3Cproquest_cross%3E2629060702%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2641234333&rft_id=info:pmid/35166989&rfr_iscdi=true |