FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4309682007> ?p ?o ?g. }

• W4309682007 endingPage "138" @default.
• W4309682007 startingPage "131" @default.
• W4309682007 abstract "Malignant peripheral nerve sheath tumors (MPNST) are aggressive neoplasms, arising either sporadically, in the setting of neurofibromatosis type I (NF1) or post radiation. Most MPNST occur in adults and their pathogenesis is driven by the loss of function mutations in the PRC2 complex, regardless of their clinical presentation. In contrast, pediatric MPNST are rare and their pathogenesis has not been elucidated. In this study, we investigate a large cohort of 64 MPNSTs arising in children and young adults (younger than the age of 20 years) to better define their clinicopathologic and molecular features. Sixteen (25%) cases were investigated by MSK-IMPACT, a targeted NGS panel of 505 cancer genes. Most patients (80%) were aged 11-20 years. A history of NF1 was established in half of the cases. Mean tumor size was 8.5 cm. The most common locations included the extremities (34%) and abdomen/pelvis (27%). Histologically, 89% of high-grade MPNST showed conventional features, while the remaining three cases showed a predominant epithelioid phenotype. Heterologous differentiation occurred in 25% of high grade cases, with half showing rhabdomyoblastic differentiation. Tumors arose in a background of a plexiform neurofibroma (16%), neurofibroma (13%), and schwannoma in two cases (3%). Immunohistochemically, H3K27me3 expression was lost in 82% of conventional high-grade MPNST analyzed, while loss of SMARCB1 expression was seen in one epithelioid MPNST. Genomically, all cases showed more than one genetic abnormality, with 53% showing mutations in EED / SUZ12 genes, and 47% of cases harboring alterations in NF1 and CDKN2A/CDKN2B genes. At the last follow-up, 30% patients died of disease, 28% were alive with disease and 42% had no evidence of disease. NF1 status did not correlate with overall survival. In conclusion, half of pediatric and young adult MPNST were NF1-related and showed loss of function alterations in PRC2 complex, NF1, and CDKN2A, similar to the adult counterpart. Thus, H3K27me3 loss of expression may be used in the diagnosis of high grade MPNSTs in children. Moreover, a small subset of pediatric MPNST have an epithelioid morphology with different pathogenesis." @default.
• W4309682007 created "2022-11-29" @default.
• W4309682007 creator A5012215691 @default.
• W4309682007 creator A5051500877 @default.
• W4309682007 creator A5080725919 @default.
• W4309682007 creator A5086786876 @default.
• W4309682007 date "2022-11-30" @default.
• W4309682007 modified "2023-09-23" @default.
• W4309682007 title "Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart" @default.
• W4309682007 cites W1538283070 @default.
• W4309682007 cites W1987616416 @default.
• W4309682007 cites W1987937498 @default.
• W4309682007 cites W2003650911 @default.
• W4309682007 cites W2012459207 @default.
• W4309682007 cites W2033761295 @default.
• W4309682007 cites W2035208208 @default.
• W4309682007 cites W2070604281 @default.
• W4309682007 cites W2094063569 @default.
• W4309682007 cites W2147361937 @default.
• W4309682007 cites W223909586 @default.
• W4309682007 cites W2316838404 @default.
• W4309682007 cites W2366880389 @default.
• W4309682007 cites W2409681215 @default.
• W4309682007 cites W2560234521 @default.
• W4309682007 cites W2582535866 @default.
• W4309682007 cites W2619995112 @default.
• W4309682007 cites W2625944954 @default.
• W4309682007 cites W2780695815 @default.
• W4309682007 cites W2895684263 @default.
• W4309682007 cites W2911232415 @default.
• W4309682007 cites W2921277712 @default.
• W4309682007 cites W3080761830 @default.
• W4309682007 doi "https://doi.org/10.1002/gcc.23106" @default.
• W4309682007 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36414547" @default.
• W4309682007 hasPublicationYear "2022" @default.
• W4309682007 type Work @default.
• W4309682007 citedByCount "0" @default.
• W4309682007 crossrefType "journal-article" @default.
• W4309682007 hasAuthorship W4309682007A5012215691 @default.
• W4309682007 hasAuthorship W4309682007A5051500877 @default.
• W4309682007 hasAuthorship W4309682007A5080725919 @default.
• W4309682007 hasAuthorship W4309682007A5086786876 @default.
• W4309682007 hasConcept C104317684 @default.
• W4309682007 hasConcept C121608353 @default.
• W4309682007 hasConcept C126322002 @default.
• W4309682007 hasConcept C127716648 @default.
• W4309682007 hasConcept C142724271 @default.
• W4309682007 hasConcept C167227067 @default.
• W4309682007 hasConcept C177450382 @default.
• W4309682007 hasConcept C2777831590 @default.
• W4309682007 hasConcept C2778173781 @default.
• W4309682007 hasConcept C2778984943 @default.
• W4309682007 hasConcept C2780265364 @default.
• W4309682007 hasConcept C2780942790 @default.
• W4309682007 hasConcept C2781447767 @default.
• W4309682007 hasConcept C2910078708 @default.
• W4309682007 hasConcept C41091548 @default.
• W4309682007 hasConcept C54355233 @default.
• W4309682007 hasConcept C68838962 @default.
• W4309682007 hasConcept C71924100 @default.
• W4309682007 hasConcept C86803240 @default.
• W4309682007 hasConceptScore W4309682007C104317684 @default.
• W4309682007 hasConceptScore W4309682007C121608353 @default.
• W4309682007 hasConceptScore W4309682007C126322002 @default.
• W4309682007 hasConceptScore W4309682007C127716648 @default.
• W4309682007 hasConceptScore W4309682007C142724271 @default.
• W4309682007 hasConceptScore W4309682007C167227067 @default.
• W4309682007 hasConceptScore W4309682007C177450382 @default.
• W4309682007 hasConceptScore W4309682007C2777831590 @default.
• W4309682007 hasConceptScore W4309682007C2778173781 @default.
• W4309682007 hasConceptScore W4309682007C2778984943 @default.
• W4309682007 hasConceptScore W4309682007C2780265364 @default.
• W4309682007 hasConceptScore W4309682007C2780942790 @default.
• W4309682007 hasConceptScore W4309682007C2781447767 @default.
• W4309682007 hasConceptScore W4309682007C2910078708 @default.
• W4309682007 hasConceptScore W4309682007C41091548 @default.
• W4309682007 hasConceptScore W4309682007C54355233 @default.
• W4309682007 hasConceptScore W4309682007C68838962 @default.
• W4309682007 hasConceptScore W4309682007C71924100 @default.
• W4309682007 hasConceptScore W4309682007C86803240 @default.
• W4309682007 hasFunder F4320337351 @default.
• W4309682007 hasIssue "3" @default.
• W4309682007 hasLocation W43096820071 @default.
• W4309682007 hasLocation W43096820072 @default.
• W4309682007 hasOpenAccess W4309682007 @default.
• W4309682007 hasPrimaryLocation W43096820071 @default.
• W4309682007 hasRelatedWork W1934331152 @default.
• W4309682007 hasRelatedWork W2018563857 @default.
• W4309682007 hasRelatedWork W2067476446 @default.
• W4309682007 hasRelatedWork W2110928651 @default.
• W4309682007 hasRelatedWork W2170340309 @default.
• W4309682007 hasRelatedWork W2276090771 @default.
• W4309682007 hasRelatedWork W2582535866 @default.
• W4309682007 hasRelatedWork W3078186269 @default.
• W4309682007 hasRelatedWork W3129549871 @default.
• W4309682007 hasRelatedWork W4309682007 @default.
• W4309682007 hasVolume "62" @default.
• W4309682007 isParatext "false" @default.

• next