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: | , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/24fd725f332c4ac48cb27bee6e26080b |
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| Sumario: | 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. |
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