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Malignant transverse muscle tumor (MRTs) is a highly invasive malignant tumor that usually affects young children and infants.
this tumor can occur anywhere in the body, but most (66%) are found in the central nervous system (CNS), where they are called atypical teratomas/transverse myopathic tumors (ATRT).
EVEN in pediatric oncology, ATRT is a rare tumor entity.
, it is still the most common embryonic central nervous system tumor in children under 12 months of age.
functionally missing mutation in the SWITch/Sucrose Non-Fermentable chromatin reconstruction complex is a characteristic independent of tumor location and the only relapse gene change in all MRTs.
in the vast majority of MRTs, pathogenic variants ("mutations") affect the SMARCB1 gene.
in rare cases (approximately 0.5-2% of ATRT), SMARCA4 mutates.
the loss of the corresponding protein due to these mutations, the loss of Immune tissue chemistry to SMARCB1 or SMARCA4 staining is used as a diagnostic tool to ensure atRT diagnosis.
about one-third of patients with SMARCB1 defective MRT carry the SMARCB1 gene with a mutation in the lineage.
although this is a very small number, it seems that PATIENTs with ATRT-SMARCA4 are more likely to be carriers of lineage mutations.
, patients in the longer group tended to be younger and their tumors appeared to be more aggressive because of their shorter survival.
the potential genetic cause of ATRTs is the incasal incasality of dual allogen mutations in SMARCB1 or SMARCA4 (rarely).
, ATRT-SMARC4 was associated with higher frequency, younger age, and poorer prognosmation than in SMARCB1 mutation cases.
based on their DNA methylation spectrum and transcriptional histology, the ATRT of the SMARCB1 mutation was divided into three different molecular subgroups: ATRT-TYR, ATRT-SHH, and ATRT-MYC.
these subgroups differed in diagnosis age, tumor location, SMARCB1 change type, and total survival rate.
, however, it is not known whether ATRT-SMARCA4 belongs to one of the ATRT sub-groups described.
this study tested 14 ATRT-SMARCA4s using DNA methylation analysis.
found that they formed a separate group, unlike ATRT and other SMARCA4 defective tumors with SMARCB1 mutations, such as ovarian small cell carcinoma, hyper-calcium type (SCCOHT) or SMARCA4 mutated extracranial malignant transverse muscle-like tumors.
, myeloma (MB) samples with the hybrid SMARCA4 mutation were not grouped separately, but had established MB subgroups.
RNA sequencing of ATRT-SMARCA4 confirmed clustering results based on DNA methylation spectrometry analysis and showed that there were no modified typical feature genes in the ATRT missing from SMARCB1.
, the results of this study suggest that ATRT-SMARCA4 should be considered a unique molecular sub-group, consistent with previous clinical observations.
Holdhof, D., Johann, P.D., Spohn, M. et al. Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases . Acta Neuropathol 141, 291–301 (2021). 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 Originals" 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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