Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma

Background: Neuroblastoma (NB) tumours have the highest incidence of spontaneous remission, especially among the stage 4s NB subgroup affecting infants. Clinical distinction of stage 4s from lethal stage 4 can be difficult, but critical for therapeutic decisions. The aim of this study was to investi...

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Autores: Lavarino, Cinzia, Cheung, Nai-Kong V., García, Idoia, Domènech Gómez, Gemma, Torres, Carmen de, Alaminos, Miguel, Ríos, José|||0000-0002-0716-8784, Gerald, William L., Kushner, Brian, LaQuaglia, Mike, Català-Mora, Jaume|||0000-0003-2152-8579
Tipo de recurso: artículo
Fecha de publicación:2009
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:113554
Acceso en línea:https://ddd.uab.cat/record/113554
https://dx.doi.org/urn:doi:10.1186/1471-2407-9-44
Access Level:acceso abierto
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spelling Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastomaLavarino, CinziaCheung, Nai-Kong V.García, IdoiaDomènech Gómez, GemmaTorres, Carmen deAlaminos, MiguelRíos, José|||0000-0002-0716-8784Gerald, William L.Kushner, BrianLaQuaglia, MikeCatalà-Mora, Jaume|||0000-0003-2152-8579Background: Neuroblastoma (NB) tumours have the highest incidence of spontaneous remission, especially among the stage 4s NB subgroup affecting infants. Clinical distinction of stage 4s from lethal stage 4 can be difficult, but critical for therapeutic decisions. The aim of this study was to investigate chromosomal alterations and differential gene expression amongst infant disseminated NB subgroups. Methods: Thirty-five NB tumours from patients diagnosed at < 18 months (25 stage 4 and 10 stage 4s), were evaluated by allelic and gene expression analyses. Results: All stage 4s patients underwent spontaneous remission, only 48% stage 4 patients survived despite combined modality therapy. Stage 4 tumours were 90% near-diploid/tetraploid, 44% MYCN amplified, 77% had 1p LOH (50% 1p36), 23% 11q and/or 14q LOH (27%) and 47% had 17q gain. Stage 4s were 90% near-triploid, none MYCN amplified and LOH was restricted to 11q. Initial comparison analyses between stage 4s and 4 < 12 months tumours revealed distinct gene expression profiles. A significant portion of genes mapped to chromosome 1 (P < 0.0001), 90% with higher expression in stage 4s, and chromosome 11 (P = 0.0054), 91% with higher expression in stage 4. Less definite expression profiles were observed between stage 4s and 4 < 18m, yet, association with chromosomes 1 (P < 0.0001) and 11 (P = 0.005) was maintained. Distinct gene expression profiles but no significant association with specific chromosomal region localization was observed between stage 4s and stage 4 < 18 months without MYCN amplification. Conclusion: Specific chromosomal aberrations are associated with distinct gene expression profiles which characterize spontaneously regressing or aggressive infant NB, providing the biological basis for the distinct clinical behaviour. 22009-01-0120092009-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfimage/jpeghttps://ddd.uab.cat/record/113554https://dx.doi.org/urn:doi:10.1186/1471-2407-9-44reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/3.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:1135542026-06-06T12:50:31Z
dc.title.none.fl_str_mv Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
title Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
spellingShingle Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
Lavarino, Cinzia
title_short Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
title_full Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
title_fullStr Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
title_full_unstemmed Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
title_sort Specific gene expression profiles and chromosomal abnormalities are associated with infant disseminated neuroblastoma
dc.creator.none.fl_str_mv Lavarino, Cinzia
Cheung, Nai-Kong V.
García, Idoia
Domènech Gómez, Gemma
Torres, Carmen de
Alaminos, Miguel
Ríos, José|||0000-0002-0716-8784
Gerald, William L.
Kushner, Brian
LaQuaglia, Mike
Català-Mora, Jaume|||0000-0003-2152-8579
author Lavarino, Cinzia
author_facet Lavarino, Cinzia
Cheung, Nai-Kong V.
García, Idoia
Domènech Gómez, Gemma
Torres, Carmen de
Alaminos, Miguel
Ríos, José|||0000-0002-0716-8784
Gerald, William L.
Kushner, Brian
LaQuaglia, Mike
Català-Mora, Jaume|||0000-0003-2152-8579
author_role author
author2 Cheung, Nai-Kong V.
García, Idoia
Domènech Gómez, Gemma
Torres, Carmen de
Alaminos, Miguel
Ríos, José|||0000-0002-0716-8784
Gerald, William L.
Kushner, Brian
LaQuaglia, Mike
Català-Mora, Jaume|||0000-0003-2152-8579
author2_role author
author
author
author
author
author
author
author
author
author
description Background: Neuroblastoma (NB) tumours have the highest incidence of spontaneous remission, especially among the stage 4s NB subgroup affecting infants. Clinical distinction of stage 4s from lethal stage 4 can be difficult, but critical for therapeutic decisions. The aim of this study was to investigate chromosomal alterations and differential gene expression amongst infant disseminated NB subgroups. Methods: Thirty-five NB tumours from patients diagnosed at < 18 months (25 stage 4 and 10 stage 4s), were evaluated by allelic and gene expression analyses. Results: All stage 4s patients underwent spontaneous remission, only 48% stage 4 patients survived despite combined modality therapy. Stage 4 tumours were 90% near-diploid/tetraploid, 44% MYCN amplified, 77% had 1p LOH (50% 1p36), 23% 11q and/or 14q LOH (27%) and 47% had 17q gain. Stage 4s were 90% near-triploid, none MYCN amplified and LOH was restricted to 11q. Initial comparison analyses between stage 4s and 4 < 12 months tumours revealed distinct gene expression profiles. A significant portion of genes mapped to chromosome 1 (P < 0.0001), 90% with higher expression in stage 4s, and chromosome 11 (P = 0.0054), 91% with higher expression in stage 4. Less definite expression profiles were observed between stage 4s and 4 < 18m, yet, association with chromosomes 1 (P < 0.0001) and 11 (P = 0.005) was maintained. Distinct gene expression profiles but no significant association with specific chromosomal region localization was observed between stage 4s and stage 4 < 18 months without MYCN amplification. Conclusion: Specific chromosomal aberrations are associated with distinct gene expression profiles which characterize spontaneously regressing or aggressive infant NB, providing the biological basis for the distinct clinical behaviour.
publishDate 2009
dc.date.none.fl_str_mv 2
2009-01-01
2009
2009-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/113554
https://dx.doi.org/urn:doi:10.1186/1471-2407-9-44
url https://ddd.uab.cat/record/113554
https://dx.doi.org/urn:doi:10.1186/1471-2407-9-44
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/3.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/3.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
image/jpeg
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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