Embryonal Neoplasm

This is the first case report of cribriform neuroepithelial tumor (CRINET), a rare brain cancer identified in a 26-month-old girl and a 10-month-old boy, affecting the third and fourth ventricles. His… (full text at CIViC)

PMID 19915490 · Hasselblatt et al., 2009 · Open in CIViC

This study explored the molecular features of cribriform neuroepithelial tumors (CRINET) using multiplex ligation-dependent probe amplification (MLPA) and molecular inversion profiling (MIP) assays al… (full text at CIViC)

PMID 26352987 · Gessi et al., 2015 · Open in CIViC

Saridegib treatment induced tumor reduction and significantly prolonged survival in a Shh-driven mouse medulloblastoma model, and was found to be active in cells with the D473H point mutation.

PMID 22550175 · Lee et al., 2012 · Open in CIViC

In this case report, the D473H mutation was reported as an acquired mechanism of resistance to the hedgehog pathway inhibitor GDC-0449 (vismodegib).

PMID 19726788 · Yauch et al., 2009 · Open in CIViC

Analysis of somatic copy number alterations (SCNAs) in 1087 medulloblastoma tumours identified a recurrent tandem duplication of SNCAIP that was restricted to Group 4 medulloblastoma. SNCAIP duplicati… (full text at CIViC)

PMID 22832581 · Northcott et al., 2012 · Open in CIViC

In a study of 96 Ewing sarcoma tumors, 15% showed heterogenous loss of STAG2 expression in IHC analysis. Of those with STAG2 expression loss, 88% presented with metastatic disease compared to only 27… (full text at CIViC)

PMID 25186949 · Crompton et al., 2014 · Open in CIViC

In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a SUFU deletion, SMO inhibition with LDE225 (Sonidegib) did not affect cell proliferation.

PMID 24651015 · Kool et al., 2014 · Open in CIViC

All chordomas including 14 conventional chordomas and 7 poorly differentiated chordomas exhibited nuclear expression of brachyury (TBX2) by IHC whereas only 2 of 30 atypical teratoid/rhabdoid tumors w… (full text at CIViC)

PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC

shRNA knockdown of TBXT in the JHC7 chordoma cell line with TBXT amplification resulted in differentiation and growth arrest.

PMID 21699479 · Hsu et al., 2011 · Open in CIViC

All chordomas including 14 conventional chordomas and 7 poorly differentiated chordomas exhibited nuclear expression of brachyury (TBXT) by IHC whereas only 2 of 30 atypical teratoid/rhabdoid tumors w… (full text at CIViC)

PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC

This pediatric patients harboured a chordoma with high TBXT expression when compared with TCGA and POG570 data, and a high CD8+ infiltration score. The patient was treated with nivolumab, and experien… (full text at CIViC)

PMID 34931022 · Williamson et al., 2021 · Open in CIViC

Knockdown of TBXT in the U-CH1 chordoma cell line with polysomy of chromosome 6 decreased proliferation and induced a senescence-like phenotype.

PMID 21171078 · Presneau et al., 2011 · Open in CIViC

Knockdown of TBXT in the U-CH1 chordoma cell line with polysomy of chromosome 6 decreased proliferation and induced a senescence-like phenotype.

PMID 21171078 · Presneau et al., 2011 · Open in CIViC

This international, multicenter study analyzed patients with medulloblastoma (MB) from both retrospective and prospective cohorts in order to identify consensus MB predisposition genes. A total of 102… (full text at CIViC)

PMID 29753700 · Waszak et al., 2018 · Open in CIViC

In the childhood (≥4.3 years) SHH-MB subgroup, TP53 mutations (n=13) are associated with shorter progression-free survival (PFS) compared to the no mutation group (n=35) (HR, 3.47; 95% CI, 1.29 to 9.3… (full text at CIViC)

PMID 28545823 · Schwalbe et al., 2017 · Open in CIViC

40 diffuse anaplasia in Wilms tumours (DAWT) samples were tested using copy number (n = 32) and gene expression (n = 36) arrays. 22 had TP53 mutations and 20 of these also had 17p loss. An increased r… (full text at CIViC)

PMID 25313908 · Maschietto et al., 2014 · Open in CIViC

44 archival FFPE samples from confirmed cases of Wilms tumor with mean age 3 years 2 months, and taken from the most histologically aggressive parts of each tumor, were stained with p53 monoclonal ant… (full text at CIViC)

PMID 21525573 · Jadali et al., 2011 · Open in CIViC