Determination of 17q gain in patients with neuroblastoma by analysis of circulating DNA
Retrospective studies have demonstrated the prognostic impact of genomic profiles in neuroblastoma (NB). Segmental chromosome alterations have been found useful for identifying tumors with a high risk of relapse. As the gain of chromosome arm 17q is the most frequent chromosome alteration reported i...
Gespeichert in:
| Veröffentlicht in: | Pediatric blood & cancer 2011-05, Vol.56 (5), p.757 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 5 |
| container_start_page | 757 |
| container_title | Pediatric blood & cancer |
| container_volume | 56 |
| creator | Combaret, Valérie Bréjon, Stéphanie Iacono, Isabelle Schleiermacher, Gudrun Pierron, Gäelle Ribeiro, Agnès Bergeron, Christophe Marabelle, Aurélien Puisieux, Alain |
| description | Retrospective studies have demonstrated the prognostic impact of genomic profiles in neuroblastoma (NB). Segmental chromosome alterations have been found useful for identifying tumors with a high risk of relapse. As the gain of chromosome arm 17q is the most frequent chromosome alteration reported in NB primary tumors, we evaluated the presence of this 17q gain in the peripheral blood of patients with NB.
Using duplex quantitative real-time PCR, we quantified simultaneously MPO (17q.23.1) and a reference gene, p53, and Survivin (17q25) and p53. MPO and Survivin copy numbers were evaluated as MPO/p53 and Survivin/p53 ratios in 142 serum or plasma samples in which 17q status had been determined by array-based comparative genomic hybridization (aCGH) or multiplex ligation-dependent probe amplification (MLPA).
In patients |
| doi_str_mv | 10.1002/pbc.22816 |
| format | Article |
| fullrecord | <record><control><sourceid>pubmed</sourceid><recordid>TN_cdi_pubmed_primary_21370407</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>21370407</sourcerecordid><originalsourceid>FETCH-LOGICAL-p108t-1e29b82e6673aea21725d5566d0bfa2d82bd7d7a6fb3ad49ba2eb32c151e22893</originalsourceid><addsrcrecordid>eNo1T91KwzAYDYK4Ob3wBSQv0Jl8aZL2cmz-wdAbxcvxpUlnpE1rkyJ9eysqHDhw_uAQcsXZmjMGN72p1gAFVydkyWUuM8m4XpDzGD9mWzFZnJEFcKFZzvSSvO1cckPrAybfBdrVlOtPekQf6Ix-Vl1IkX759E6DG4fONBhT1yI1E8WAzRR9_KlVfqjGZs6HI909bS7IaY1NdJd_vCKvd7cv24ds_3z_uN3ss56zImXcQWkKcEppgQ6Ba5BWSqUsMzWCLcBYbTWq2gi0eWkQnBFQcTk3oSjFilz_7vajaZ099INvcZgO_w_FNxdjUIU</addsrcrecordid><sourcetype>Index Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Determination of 17q gain in patients with neuroblastoma by analysis of circulating DNA</title><source>MEDLINE</source><source>Wiley Journals</source><creator>Combaret, Valérie ; Bréjon, Stéphanie ; Iacono, Isabelle ; Schleiermacher, Gudrun ; Pierron, Gäelle ; Ribeiro, Agnès ; Bergeron, Christophe ; Marabelle, Aurélien ; Puisieux, Alain</creator><creatorcontrib>Combaret, Valérie ; Bréjon, Stéphanie ; Iacono, Isabelle ; Schleiermacher, Gudrun ; Pierron, Gäelle ; Ribeiro, Agnès ; Bergeron, Christophe ; Marabelle, Aurélien ; Puisieux, Alain</creatorcontrib><description>Retrospective studies have demonstrated the prognostic impact of genomic profiles in neuroblastoma (NB). Segmental chromosome alterations have been found useful for identifying tumors with a high risk of relapse. As the gain of chromosome arm 17q is the most frequent chromosome alteration reported in NB primary tumors, we evaluated the presence of this 17q gain in the peripheral blood of patients with NB.
Using duplex quantitative real-time PCR, we quantified simultaneously MPO (17q.23.1) and a reference gene, p53, and Survivin (17q25) and p53. MPO and Survivin copy numbers were evaluated as MPO/p53 and Survivin/p53 ratios in 142 serum or plasma samples in which 17q status had been determined by array-based comparative genomic hybridization (aCGH) or multiplex ligation-dependent probe amplification (MLPA).
In patients <18 months of age, serum-based determination of 17q gain in DNA sequences had good specificity (94.4%) and 58.8% sensitivity (P < 0.001). In contrast, for patients over 18 months of age, the approach exhibited moderate specificity (71.4%) and 51.2% sensitivity (P = ns). Similar results were observed in patients with tumors without MYCN amplification.
Our results show that 17q gain determination in circulating DNA is possible and suggest that this non-invasive test could be useful for very young children when no reliable information on genomic alterations is obtained by aCGH or MPLA analysis of tumor samples This test is complementary to previously developed techniques for detecting circulating MYCN DNA sequences.</description><identifier>EISSN: 1545-5017</identifier><identifier>DOI: 10.1002/pbc.22816</identifier><identifier>PMID: 21370407</identifier><language>eng</language><publisher>United States</publisher><subject>Biomarkers, Tumor - blood ; Biomarkers, Tumor - genetics ; Case-Control Studies ; Chromosome Aberrations ; Chromosomes, Human, Pair 17 - genetics ; Comparative Genomic Hybridization ; DNA, Neoplasm - blood ; Female ; Gene Amplification ; Granulocyte Colony-Stimulating Factor - blood ; Granulocyte Colony-Stimulating Factor - genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Inhibitor of Apoptosis Proteins - blood ; Inhibitor of Apoptosis Proteins - genetics ; Interleukin-3 - blood ; Interleukin-3 - genetics ; Male ; Neuroblastoma - blood ; Neuroblastoma - genetics ; Neuroblastoma - pathology ; Polymerase Chain Reaction ; Prognosis ; Recombinant Fusion Proteins - blood ; Recombinant Fusion Proteins - genetics ; Recombinant Proteins ; Retrospective Studies ; Sensitivity and Specificity ; Survival Rate ; Tumor Suppressor Protein p53 - blood ; Tumor Suppressor Protein p53 - genetics</subject><ispartof>Pediatric blood & cancer, 2011-05, Vol.56 (5), p.757</ispartof><rights>Copyright © 2011 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21370407$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Combaret, Valérie</creatorcontrib><creatorcontrib>Bréjon, Stéphanie</creatorcontrib><creatorcontrib>Iacono, Isabelle</creatorcontrib><creatorcontrib>Schleiermacher, Gudrun</creatorcontrib><creatorcontrib>Pierron, Gäelle</creatorcontrib><creatorcontrib>Ribeiro, Agnès</creatorcontrib><creatorcontrib>Bergeron, Christophe</creatorcontrib><creatorcontrib>Marabelle, Aurélien</creatorcontrib><creatorcontrib>Puisieux, Alain</creatorcontrib><title>Determination of 17q gain in patients with neuroblastoma by analysis of circulating DNA</title><title>Pediatric blood & cancer</title><addtitle>Pediatr Blood Cancer</addtitle><description>Retrospective studies have demonstrated the prognostic impact of genomic profiles in neuroblastoma (NB). Segmental chromosome alterations have been found useful for identifying tumors with a high risk of relapse. As the gain of chromosome arm 17q is the most frequent chromosome alteration reported in NB primary tumors, we evaluated the presence of this 17q gain in the peripheral blood of patients with NB.
Using duplex quantitative real-time PCR, we quantified simultaneously MPO (17q.23.1) and a reference gene, p53, and Survivin (17q25) and p53. MPO and Survivin copy numbers were evaluated as MPO/p53 and Survivin/p53 ratios in 142 serum or plasma samples in which 17q status had been determined by array-based comparative genomic hybridization (aCGH) or multiplex ligation-dependent probe amplification (MLPA).
In patients <18 months of age, serum-based determination of 17q gain in DNA sequences had good specificity (94.4%) and 58.8% sensitivity (P < 0.001). In contrast, for patients over 18 months of age, the approach exhibited moderate specificity (71.4%) and 51.2% sensitivity (P = ns). Similar results were observed in patients with tumors without MYCN amplification.
Our results show that 17q gain determination in circulating DNA is possible and suggest that this non-invasive test could be useful for very young children when no reliable information on genomic alterations is obtained by aCGH or MPLA analysis of tumor samples This test is complementary to previously developed techniques for detecting circulating MYCN DNA sequences.</description><subject>Biomarkers, Tumor - blood</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Case-Control Studies</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes, Human, Pair 17 - genetics</subject><subject>Comparative Genomic Hybridization</subject><subject>DNA, Neoplasm - blood</subject><subject>Female</subject><subject>Gene Amplification</subject><subject>Granulocyte Colony-Stimulating Factor - blood</subject><subject>Granulocyte Colony-Stimulating Factor - genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Inhibitor of Apoptosis Proteins - blood</subject><subject>Inhibitor of Apoptosis Proteins - genetics</subject><subject>Interleukin-3 - blood</subject><subject>Interleukin-3 - genetics</subject><subject>Male</subject><subject>Neuroblastoma - blood</subject><subject>Neuroblastoma - genetics</subject><subject>Neuroblastoma - pathology</subject><subject>Polymerase Chain Reaction</subject><subject>Prognosis</subject><subject>Recombinant Fusion Proteins - blood</subject><subject>Recombinant Fusion Proteins - genetics</subject><subject>Recombinant Proteins</subject><subject>Retrospective Studies</subject><subject>Sensitivity and Specificity</subject><subject>Survival Rate</subject><subject>Tumor Suppressor Protein p53 - blood</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><issn>1545-5017</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1T91KwzAYDYK4Ob3wBSQv0Jl8aZL2cmz-wdAbxcvxpUlnpE1rkyJ9eysqHDhw_uAQcsXZmjMGN72p1gAFVydkyWUuM8m4XpDzGD9mWzFZnJEFcKFZzvSSvO1cckPrAybfBdrVlOtPekQf6Ix-Vl1IkX759E6DG4fONBhT1yI1E8WAzRR9_KlVfqjGZs6HI909bS7IaY1NdJd_vCKvd7cv24ds_3z_uN3ss56zImXcQWkKcEppgQ6Ba5BWSqUsMzWCLcBYbTWq2gi0eWkQnBFQcTk3oSjFilz_7vajaZ099INvcZgO_w_FNxdjUIU</recordid><startdate>201105</startdate><enddate>201105</enddate><creator>Combaret, Valérie</creator><creator>Bréjon, Stéphanie</creator><creator>Iacono, Isabelle</creator><creator>Schleiermacher, Gudrun</creator><creator>Pierron, Gäelle</creator><creator>Ribeiro, Agnès</creator><creator>Bergeron, Christophe</creator><creator>Marabelle, Aurélien</creator><creator>Puisieux, Alain</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope></search><sort><creationdate>201105</creationdate><title>Determination of 17q gain in patients with neuroblastoma by analysis of circulating DNA</title><author>Combaret, Valérie ; Bréjon, Stéphanie ; Iacono, Isabelle ; Schleiermacher, Gudrun ; Pierron, Gäelle ; Ribeiro, Agnès ; Bergeron, Christophe ; Marabelle, Aurélien ; Puisieux, Alain</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p108t-1e29b82e6673aea21725d5566d0bfa2d82bd7d7a6fb3ad49ba2eb32c151e22893</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Biomarkers, Tumor - blood</topic><topic>Biomarkers, Tumor - genetics</topic><topic>Case-Control Studies</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes, Human, Pair 17 - genetics</topic><topic>Comparative Genomic Hybridization</topic><topic>DNA, Neoplasm - blood</topic><topic>Female</topic><topic>Gene Amplification</topic><topic>Granulocyte Colony-Stimulating Factor - blood</topic><topic>Granulocyte Colony-Stimulating Factor - genetics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Inhibitor of Apoptosis Proteins - blood</topic><topic>Inhibitor of Apoptosis Proteins - genetics</topic><topic>Interleukin-3 - blood</topic><topic>Interleukin-3 - genetics</topic><topic>Male</topic><topic>Neuroblastoma - blood</topic><topic>Neuroblastoma - genetics</topic><topic>Neuroblastoma - pathology</topic><topic>Polymerase Chain Reaction</topic><topic>Prognosis</topic><topic>Recombinant Fusion Proteins - blood</topic><topic>Recombinant Fusion Proteins - genetics</topic><topic>Recombinant Proteins</topic><topic>Retrospective Studies</topic><topic>Sensitivity and Specificity</topic><topic>Survival Rate</topic><topic>Tumor Suppressor Protein p53 - blood</topic><topic>Tumor Suppressor Protein p53 - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Combaret, Valérie</creatorcontrib><creatorcontrib>Bréjon, Stéphanie</creatorcontrib><creatorcontrib>Iacono, Isabelle</creatorcontrib><creatorcontrib>Schleiermacher, Gudrun</creatorcontrib><creatorcontrib>Pierron, Gäelle</creatorcontrib><creatorcontrib>Ribeiro, Agnès</creatorcontrib><creatorcontrib>Bergeron, Christophe</creatorcontrib><creatorcontrib>Marabelle, Aurélien</creatorcontrib><creatorcontrib>Puisieux, Alain</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>Pediatric blood & cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Combaret, Valérie</au><au>Bréjon, Stéphanie</au><au>Iacono, Isabelle</au><au>Schleiermacher, Gudrun</au><au>Pierron, Gäelle</au><au>Ribeiro, Agnès</au><au>Bergeron, Christophe</au><au>Marabelle, Aurélien</au><au>Puisieux, Alain</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Determination of 17q gain in patients with neuroblastoma by analysis of circulating DNA</atitle><jtitle>Pediatric blood & cancer</jtitle><addtitle>Pediatr Blood Cancer</addtitle><date>2011-05</date><risdate>2011</risdate><volume>56</volume><issue>5</issue><spage>757</spage><pages>757-</pages><eissn>1545-5017</eissn><abstract>Retrospective studies have demonstrated the prognostic impact of genomic profiles in neuroblastoma (NB). Segmental chromosome alterations have been found useful for identifying tumors with a high risk of relapse. As the gain of chromosome arm 17q is the most frequent chromosome alteration reported in NB primary tumors, we evaluated the presence of this 17q gain in the peripheral blood of patients with NB.
Using duplex quantitative real-time PCR, we quantified simultaneously MPO (17q.23.1) and a reference gene, p53, and Survivin (17q25) and p53. MPO and Survivin copy numbers were evaluated as MPO/p53 and Survivin/p53 ratios in 142 serum or plasma samples in which 17q status had been determined by array-based comparative genomic hybridization (aCGH) or multiplex ligation-dependent probe amplification (MLPA).
In patients <18 months of age, serum-based determination of 17q gain in DNA sequences had good specificity (94.4%) and 58.8% sensitivity (P < 0.001). In contrast, for patients over 18 months of age, the approach exhibited moderate specificity (71.4%) and 51.2% sensitivity (P = ns). Similar results were observed in patients with tumors without MYCN amplification.
Our results show that 17q gain determination in circulating DNA is possible and suggest that this non-invasive test could be useful for very young children when no reliable information on genomic alterations is obtained by aCGH or MPLA analysis of tumor samples This test is complementary to previously developed techniques for detecting circulating MYCN DNA sequences.</abstract><cop>United States</cop><pmid>21370407</pmid><doi>10.1002/pbc.22816</doi></addata></record> |
| fulltext | fulltext |
| identifier | EISSN: 1545-5017 |
| ispartof | Pediatric blood & cancer, 2011-05, Vol.56 (5), p.757 |
| issn | 1545-5017 |
| language | eng |
| recordid | cdi_pubmed_primary_21370407 |
| source | MEDLINE; Wiley Journals |
| subjects | Biomarkers, Tumor - blood Biomarkers, Tumor - genetics Case-Control Studies Chromosome Aberrations Chromosomes, Human, Pair 17 - genetics Comparative Genomic Hybridization DNA, Neoplasm - blood Female Gene Amplification Granulocyte Colony-Stimulating Factor - blood Granulocyte Colony-Stimulating Factor - genetics Humans In Situ Hybridization, Fluorescence Infant Inhibitor of Apoptosis Proteins - blood Inhibitor of Apoptosis Proteins - genetics Interleukin-3 - blood Interleukin-3 - genetics Male Neuroblastoma - blood Neuroblastoma - genetics Neuroblastoma - pathology Polymerase Chain Reaction Prognosis Recombinant Fusion Proteins - blood Recombinant Fusion Proteins - genetics Recombinant Proteins Retrospective Studies Sensitivity and Specificity Survival Rate Tumor Suppressor Protein p53 - blood Tumor Suppressor Protein p53 - genetics |
| title | Determination of 17q gain in patients with neuroblastoma by analysis of circulating DNA |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T04%3A08%3A41IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmed&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Determination%20of%2017q%20gain%20in%20patients%20with%20neuroblastoma%20by%20analysis%20of%20circulating%20DNA&rft.jtitle=Pediatric%20blood%20&%20cancer&rft.au=Combaret,%20Val%C3%A9rie&rft.date=2011-05&rft.volume=56&rft.issue=5&rft.spage=757&rft.pages=757-&rft.eissn=1545-5017&rft_id=info:doi/10.1002/pbc.22816&rft_dat=%3Cpubmed%3E21370407%3C/pubmed%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/21370407&rfr_iscdi=true |