Acta Neuropathologica: Exogenomics, Genomics, and Transcriptomic Histology of Neuroblastoma.

Neuroblastoma (SWNTS) is a hereditary tumor susceptible syndrome, a form of neurofibromatosis that affects about 1 in 126,315 people and is characterized by the development of a variety of non-cortogenic neuroblastomas (SWNs), mainly in the outer nerve (90%) and spinal nerves (75%), as well as less common cerebral nerves.
sign of SWNTS is severe chronic limitations or diffuse pain, which negatively affects the quality of life of patients and often leads to death.
Although system mutations in SMARCB1 or LZTR1 were found in some patients, coupled with somological cell mutations in NF2 and loss of 22q chromosomal hems, little is known about the changes in the behavioral genetics and genomics that drive SWNTS-SWNs in most cases.
we carried out multi-platform genomic analysis and established the molecular characteristics of SWNTS-SWNs.
results show that SWNTS-SWNs have different genomic characteristics than the histologically identical non-syndrome distribution of SWNs (NS-SWNs).
we have demonstrated the presence of four different single-walled cell DNA methylation substations, which are associated with specific transcription procedures and tumor locations.
we also showed some new non-22q repetitions and structural rearrations.
we detected SH3PXD2A-HTRA1 gene fusion in SWNTS-SWNs, which is dominant in LZTR1 mutant tumors.
in addition, we have identified specific genetic, omenogenetic, and operational transcriptional procedures associated with pain SWNTS-SWNs, including the PIGF, VEGF, MEK, and MTOR pathways, which may be used in the treatment of the syndrome.
method: Purified DNA using Qiagen DNeasy extraction kit, 0.5 sg treated with sulphate (Qiagen, EpiTect plus).
then used the Illumina Infinium Humanmethylionepic (EPIC) array (Illumina, San Diego, CA, USA) at PMGC to process DNA from all tumor samples for methylation analysis.
summary, we note that there is a considerable correlation between specific molecular changes in SWNTS-SWNs and system mutations in LZTR1, including high prevalence of NF2 cell mutations and absences, higher CNV, prevalence of pain, and fusion of SH3PSD2A-HTRA1.
Mansouri, S., Suppiah, S., Mamatjan, Y. et al. Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Acta Neuropathol (2020). MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Mets Medicine" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to be reproduced by any media, website or individual, and are authorized to be reproduced with the words "Source: Mets Medicine".
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