High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>

We observed a case of high-risk neuroblastoma (NB) carried by a 28-month-old girl, displaying metastatic disease and a rapid decline of clinical conditions. By array-CGH analysis of the tumor tissue and of the metastatic bone marrow aspirate cells, we found a high-grade amplification of six regions...

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Autores principales:	Marzia Ognibene, Loredana Amoroso, Fraia Melchionda, Davide Cangelosi, Federico Zara, Stefano Parodi, Annalisa Pezzolo
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	neuroblastoma genomic amplification <i>TSSC1</i> gene expression survival Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/24fd725f332c4ac48cb27bee6e26080b
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spelling	oai:doaj.org-article:24fd725f332c4ac48cb27bee6e26080b2021-11-25T17:03:59ZHigh Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>10.3390/cancers132257922072-6694https://doaj.org/article/24fd725f332c4ac48cb27bee6e26080b2021-11-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/22/5792https://doaj.org/toc/2072-6694We observed a case of high-risk neuroblastoma (NB) carried by a 28-month-old girl, displaying metastatic disease and a rapid decline of clinical conditions. By array-CGH analysis of the tumor tissue and of the metastatic bone marrow aspirate cells, we found a high-grade amplification of six regions besides <i>MYCN</i> on bands 2p25.3–p24.3. The genes involved in these amplifications were <i>MYT1L</i>, <i>TSSC1</i>, <i>CMPK2, RSAD2</i>, <i>RNF144A</i><i>, GREB1</i>, <i>NTSR2</i>, <i>LPIN1</i>, <i>NBAS,</i> and the two intergenic non-protein coding RNAs <i>LOC730811</i> and <i>LOC339788</i>. We investigated if these DNA co-amplifications may have an effect on enhancing tumor aggressiveness. We evaluated the association between the high expression of the amplified genes and NB patient’s outcome using the integration of gene expression data of 786 NB samples profiled with different public platforms from patients with at least five-year follow-up. NB patients with high expression of the <i>TSSC1</i> gene were associated with a reduced survival rate. Immunofluorescence staining on primary tumor tissues confirmed that the TSSC1 protein expression was high in the relapsed or dead stage 4 cases, but it was generally low in NB patients in complete remission. <i>TSSC1</i> appears as a putative new oncogene in NB.Marzia OgnibeneLoredana AmorosoFraia MelchiondaDavide CangelosiFederico ZaraStefano ParodiAnnalisa PezzoloMDPI AGarticleneuroblastomagenomic amplification<i>TSSC1</i>gene expressionsurvivalNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5792, p 5792 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	neuroblastoma genomic amplification <i>TSSC1</i> gene expression survival Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	neuroblastoma genomic amplification <i>TSSC1</i> gene expression survival Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Marzia Ognibene Loredana Amoroso Fraia Melchionda Davide Cangelosi Federico Zara Stefano Parodi Annalisa Pezzolo High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>
description	We observed a case of high-risk neuroblastoma (NB) carried by a 28-month-old girl, displaying metastatic disease and a rapid decline of clinical conditions. By array-CGH analysis of the tumor tissue and of the metastatic bone marrow aspirate cells, we found a high-grade amplification of six regions besides <i>MYCN</i> on bands 2p25.3–p24.3. The genes involved in these amplifications were <i>MYT1L</i>, <i>TSSC1</i>, <i>CMPK2, RSAD2</i>, <i>RNF144A</i><i>, GREB1</i>, <i>NTSR2</i>, <i>LPIN1</i>, <i>NBAS,</i> and the two intergenic non-protein coding RNAs <i>LOC730811</i> and <i>LOC339788</i>. We investigated if these DNA co-amplifications may have an effect on enhancing tumor aggressiveness. We evaluated the association between the high expression of the amplified genes and NB patient’s outcome using the integration of gene expression data of 786 NB samples profiled with different public platforms from patients with at least five-year follow-up. NB patients with high expression of the <i>TSSC1</i> gene were associated with a reduced survival rate. Immunofluorescence staining on primary tumor tissues confirmed that the TSSC1 protein expression was high in the relapsed or dead stage 4 cases, but it was generally low in NB patients in complete remission. <i>TSSC1</i> appears as a putative new oncogene in NB.
format	article
author	Marzia Ognibene Loredana Amoroso Fraia Melchionda Davide Cangelosi Federico Zara Stefano Parodi Annalisa Pezzolo
author_facet	Marzia Ognibene Loredana Amoroso Fraia Melchionda Davide Cangelosi Federico Zara Stefano Parodi Annalisa Pezzolo
author_sort	Marzia Ognibene
title	High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>
title_short	High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>
title_full	High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>
title_fullStr	High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>
title_full_unstemmed	High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>
title_sort	high grade of amplification of six regions on chromosome 2p in a neuroblastoma patient with very poor outcome: the putative new oncogene <i>tssc1</i>
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/24fd725f332c4ac48cb27bee6e26080b
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High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene <i>TSSC1</i>

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