Embryonal Neoplasm

Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC)

PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC

In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC)

PMID 16258095 · Ellison et al., 2005 · Open in CIViC

A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC)

PMID 17172831 · Clifford et al., 2006 · Open in CIViC

Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC)

PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC)

PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC

Five mutations resulted in amino acid substitutions in codons 32 and 34, suggesting an influence on the accessibility of the serine 33 for the GSK-3β kinase, preventing its phosphorylation (Fig. 2a)

PMID 9927029 · Koch et al., 1999 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

A retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cateni… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

The evidence from the literature describes the association of CTNNB1 mutation to Hepatoblastoma (HB) via detecting CTNNB1 mutation in HB cell lines through molecular techniques. In conclusion, 78% (21… (full text at CIViC)

PMID 12101426 · Taniguchi et al., 2002 · Open in CIViC

153 primary Wilms tumor samples from 150 patients were analyzed for mutations in the WT1 and CTNNB1 genes. Ten WT samples had the S45F, and 9 of them also had WT1 mutation. This study concluded a high… (full text at CIViC)

PMID 11103785 · Maiti et al., 2000 · Open in CIViC

This study analysed all five loci (WT1, CTNNB1, WTX, TP53 and the imprinted 11p15 region) in 120 Wilms tumors, and identify CTNNB1 mutation in 15% samples. Data on the 5 loci stratify Wilms tumors int… (full text at CIViC)

PMID 22470196 · Scott et al., 2012 · Open in CIViC

Of 39 hepatoblastoma samples, 10 tumor samples had point mutations in exon 3 of beta-catenin gene. One mutation changes threonine at position 41 to alanine (T41A).

PMID 16937357 · Sugawara et al., 2007 · Open in CIViC

Sanger sequencing of several pleuropulmonary blastoma tumor lines showed possible somatic missense mutation, D1810Y, in DicerI. All mutations thought to be somatic were found in the RNase IIIb domain.… (full text at CIViC)

PMID 24675358 · Seki et al., 2014 · Open in CIViC

These two mutations were identified in the tumor tissue in an NGS based panel and were not seen in the adjacent normal lung tissue. This confirms it as a rare case of somatically acquired Biallelic mu… (full text at CIViC)

PMID 24909177 · Pugh et al., 2014 · Open in CIViC

An analysis of 13 infants with pituitary blastoma (age 7-24 months) demonstrated recurrent DICER1 mutations. Of those with samples available for sequencing, 9 of 9 (100%) had germline DICER1 mutation… (full text at CIViC)

PMID 24839956 · de Kock et al., 2014 · Open in CIViC

This 2021 paper analyzed the outcomes and complications of 17 patients with pituitary blastoma. The median age of diagnosis was 11 months with a range of 2-24 months. Germline DICER1 variants were… (full text at CIViC)

PMID 33236116 · Liu et al., 2021 · Open in CIViC

A higher relapse rate was observed in patients that have both DROSHA E518K and SIX Q177R muations.

PMID 25670082 · Walz et al., 2015 · Open in CIViC

18 advanced progressing chordoma patients that were positive for EGFR by at least one technique (immunohistochemistry and/or phospho-arrays, real-time polymerase chain reaction for EGFR ligands, FISH)… (full text at CIViC)

PMID 23559153 · Stacchiotti et al., 2013 · Open in CIViC

In an analysis of 22 cases of mesoblastic nephroma, 4 of 5 (80%) cellular mesoblastic nephromas harbored ETV6::NTRK3, 1 of 5 cellular mesoblastic nephromas harbored a KLHL7::BRAF fusion, 12 of 12 (100… (full text at CIViC)

PMID 32590884 · Zhao et al., 2020 · Open in CIViC

To determine if EML4::NTRK3 fusions were recurrent in tumors known to harbor ETV6::NTRK3 fusions, the authors screened 63 cases with varying diagnoses (infantile fibrosarcoma, congenital mesoblastic n… (full text at CIViC)

PMID 29099503 · Church et al., 2018 · Open in CIViC

EML6::NTRK3 fusion is seen in cases of Infantile fibrosarcoma and congenital mesoblastic nephroma. In general, these types of tumors more commonly harbor ETV6::NTRK3 fusions.

PMID 29099503 · Church et al., 2018 · Open in CIViC

A frequent genetic alteration in congenital mesoblastic nephroma is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusivel… (full text at CIViC)

PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC

In a group of 111 mesoblastic nephroma (MN) samples, 79 were were evaluable by FISH, which consisted of 38 classical MN, 29 cellular MN, and 12 mixed MN samples. 5 year relapse free survival (RFS) was… (full text at CIViC)

PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC

The t(21;22) rearrangement resulting in the EWSR1::ERG fusion is associated with the diagnosis of Ewing sarcoma. EWSR1::ERG is the second most common gene fusion reported in this disease.

PMID 23706910 · Warren et al., 2013 · Open in CIViC

Molecular analysis of 30 Ewing tumors (designated as Ewing's sarcomas and primitive neuroectodermal tumors (PNET) in this 1994 paper) from patients with well-documented clinical course was performed. … (full text at CIViC)

PMID 7524604 · Zoubek et al., 1994 · Open in CIViC

An analysis of 85 small blue round cell tumors (SBRCTs) that were negative for EWSR1, CIC, or BCOR by FISH identified 6 FUS::ERG and 1 FUS::FEV fusions. Clinicopathologic characterization of these 7 …

In patients with Ewing's sarcoma, those with type 1 EWS-FLI1 fusions had longer overall survival than those with other types of EWS-FLI1 fusions.

PMID 9552022 · de Alava et al., 1998 · Open in CIViC

t(11;22) rearrangements of EWSR1-FLI1 are diagnostic of ewing sarcoma, and are observed in 90% of cytogenetic samples.

PMID 23706910 · Warren et al., 2013 · Open in CIViC

A total of 85 unrelated cases of Ewing's sarcoma were examined and 83% were found to harbor the t(11;22)(q24;q12) chromosomal abnormality knwon to result in the EWSR1::FLI1 fusion.

PMID 3163261 · Turc-Carel et al., 1988 · Open in CIViC

Within this preclinical study, 87 patients with neuroblastoma and 14 neuroblastoma cell lines were evaluated for overexpression of EZH2 and possible prognostic factors. In patient samples the average … (full text at CIViC)

PMID 28214660 · Bate-Eya et al., 2017 · Open in CIViC

116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC)

PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC

116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC)

PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC

In neuroblastoma, high FGFR1 expression is associated with metastatic and relapsed tumors and inferior relapse-free survival, suggesting its role in promoting disease progression and recurrence. In vi… (full text at CIViC)

PMID 35488346 · Cimmino et al., 2022 · Open in CIViC

Clinical trial of soft tissue sarcoma patients found no responses to pazopanib + trametinib combination in Ewing sarcoma patients. Comparison was done to previously treated Ewing sarcoma that responde… (full text at CIViC)

PMID 28377484 · Subbiah et al., 2017 · Open in CIViC