High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene TSSC1.
Marzia OgnibeneLoredana AmorosoFraia MelchiondaDavide CangelosiFederico ZaraStefano ParodiAnnalisa PezzoloPublished in: Cancers (2021)
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 MYCN on bands 2p25.3-p24.3. The genes involved in these amplifications were MYT1L, TSSC1, CMPK2, RSAD2, RNF144A, GREB1, NTSR2, LPIN1, NBAS, and the two intergenic non-protein coding RNAs LOC730811 and LOC339788. 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 TSSC1 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. TSSC1 appears as a putative new oncogene in NB.
Keyphrases
- high grade
- gene expression
- poor prognosis
- bone marrow
- squamous cell carcinoma
- end stage renal disease
- low grade
- small cell lung cancer
- case report
- nucleic acid
- genome wide
- binding protein
- induced apoptosis
- acute lymphoblastic leukemia
- healthcare
- ejection fraction
- acute myeloid leukemia
- mesenchymal stem cells
- chronic kidney disease
- dna methylation
- newly diagnosed
- emergency department
- long non coding rna
- high throughput
- high resolution
- transcription factor
- peritoneal dialysis
- big data
- single molecule
- multiple myeloma
- genome wide identification
- mass spectrometry
- patient reported outcomes
- single cell
- dna damage response
- systemic lupus erythematosus
- high speed
- ulcerative colitis
- artificial intelligence