Embryonal Neoplasm

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

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 respond… (full text at CIViC)

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

In the 2016 study by Sturm et al., the authors performed comprehensive molecular profiling, including DNA methylation arrays, transcriptomics, and genome-wide sequencing, on 323 institutionally diagno… (full text at CIViC)

PMID 26919435 · Sturm et al., 2016 · Open in CIViC

DNA methylation profiling of 84 tumors initially diagnosed as CNS-PNET identified CNS neuroblastoma with FOXR2 activation (CNS NB-FOXR2) as a distinct molecular subgroup, presented in 24% (20/84) of c… (full text at CIViC)

PMID 33536079 · Korshunov et al., 2021 · 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 … (full text at CIViC)

PMID 26690869 · Chen et al., 2016 · 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 … (full text at CIViC)

PMID 26690869 · Chen et al., 2016 · Open in CIViC

Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · Open in CIViC

Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · Open in CIViC

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (7 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

Group 3 medulloblastomas with MYC amplifications are often associated with large cell/anaplastic histology, young patients, and overall poor prognosis.

PMID 15328187 · Lamont et al., 2004 · Open in CIViC

In a cohort of 1596 diagnostic tumor samples taken from patients enrolled in the Children's oncology group (COG) neuroblastoma biology protocol ANBL00B1, 1579 samples were annotated with MYCN amplific… (full text at CIViC)

PMID 25517749 · Bresler et al., 2014 · Open in CIViC

In a patient derived xenograft from a sonic hedgehog driven medulloblastoma patient, MYCN amplification conferred to resistance to SMO inhibition with Sonidegib. This PDX was shown to be responsive t… (full text at CIViC)

PMID 23291299 · Kim et al., 2013 · Open in CIViC

In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC)

PMID 40036726 · Berko et al., 2025 · Open in CIViC

A preclinical study investigated the sensitivity of PARP inhibitors in Neuroblastoma with MYCN-amplified (IMR-32) cells and found a decrease in cellular viability in comparison to the non-MYCN amplifi… (full text at CIViC)

PMID 32577161 · King et al., 2020 · Open in CIViC

Low NF1 protein expression correlated positively with responses to binimetinib in neuroblastoma cell lines.

PMID 26925841 · Woodfield et al., 2016 · Open in CIViC

In-vitro study in 5 neuroblastoma cell lines (2 with NRAS Q61K mutation). The combination of mTOR and MEK Inhibitors synergistically blocked cell growth in NRAS mutant but not wild type cell lines. Si… (full text at CIViC)

PMID 26821351 · Kiessling et al., 2016 · Open in CIViC

A high level of expression of the TRK proto-oncogene in a neuroblastoma is strongly predictive of a favorable outcome. A tumor with a functional nerve growth factor receptor may be dependent on the ne… (full text at CIViC)

PMID 8441429 · Nakagawara et al., 1993 · Open in CIViC

Patients with tumors expressing high levels of trkC mRNA had significantly longer intervals without disease progression than those with low levels (log-rank, P = 0.03) and a more favorable overall sur… (full text at CIViC)

PMID 7809137 · Segal et al., 1994 · Open in CIViC

In the STARTRK-NG Phase 1/2 trial of entrectinib in pediatric patients, with extracranial solid tumors or primary CNS tumors, aged <22 years with relapsed or refractory disease, tumors with fusions… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

The paper showed that PCNA (p.K164R) inhibits the ubiquitination of PCNA and the variant can render cells sensitive to DNA-damaging agents and reduce activation-induced single-nucleotide substitutions… (full text at CIViC)

PMID 17105346 · Arakawa et al., 2006 · Open in CIViC

In a sonic hedghehog driven medulloblastoma patient derived xenograft harbouring a PTCH1 deletion, SMO inhibition with Sonidegib showed inhibition of proliferation.

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

Loss-of-heterozygosity in SHH-driven medulloblastoma was associated with increased PFS under therapy with vismodegib (AKA HhAntag691, GDC0449, GDC-0449). 43 patients total were enrolled for this study… (full text at CIViC)

PMID 26169613 · Robinson et al., 2015 · Open in CIViC

133 sonic-hedghog driven medulloblastomas were sequenced for alterations (WGS or WES). 60 cases exhibited PTCH1 mutations, most of which were likely loss-of-function (spread across the gene and of typ… (full text at CIViC)

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

An analysis of 8 ewing sarcoma patients revealed PTPRD mutations in 3 cases (V253I/W775*, T781A, R995C). 2 of 3 cases showed complete response (RECIST criteria) to IGF1R mAb based therapies. The R995C… (full text at CIViC)

PMID 23800680 · Jiang et al., 2013 · Open in CIViC

An analysis of 8 ewing sarcoma patients revealed PTPRD mutations in 3 cases (V253I/W775*, T781A, R995C). 2 of 3 cases showed complete response (RECIST criteria) to IGF1R mAb based therapies. The thrid… (full text at CIViC)

PMID 23800680 · Jiang et al., 2013 · Open in CIViC

Report of complete response to IGF1-R antibody, with or without mTOR inhibitor tensirolimus in 2/3 Ewing Sarcoma patients with germline PTPRD mutations (V253I and W775*, R995C). The third patient had … (full text at CIViC)

PMID 23800680 · Jiang et al., 2013 · Open in CIViC

SLFN11 is an ETS transcription factor response gene and a predictive marker for therapeutic response to topoisomerase I inhibitors and temozolomide-PARP inhibitor combinations in ETS-activated cancers… (full text at CIViC)

PMID 25779942 · Tang et al., 2015 · Open in CIViC

Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

Copy number profiling revealed loss of chromosome 22q including the SMARCB1 locus as the only recurrent alteration in 7 of 7 poorly differentiated chordomas. FISH or MLPA was used to confirm heterozy… (full text at CIViC)

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

Sustained low-dose panobinostat (LBH589) treatment of rhabdoid tumor cells led to changes in cellular morphology associated with a marked increase in the induction of differentiation pathways. In mous… (full text at CIViC)

PMID 26920892 · Muscat et al., 2016 · Open in CIViC

325 ATRTs underwent methylation profiling, revealing three methylation distinct clusters - ATRT-TYR, ATRT-SHH and ATRT-MYC. In the ATRT-TYR subgroup, the characteristic pattern of SMARCB1 loss was of … (full text at CIViC)

PMID 31889194 · Ho et al., 2020 · Open in CIViC

Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

53 pediatric tumors consisting of 20 AT/RT, 10 PNET, and 23 other central nervous system tumors were classified using microscopic diagnosis, and then tested for expression of the SMARCB1 gene product … (full text at CIViC)

PMID 15105654 · Judkins et al., 2004 · Open in CIViC

This study compared cribriform neuroepithelial tumor (CRINET) and atypical teratoid/rhabdoid tumor (AT/RT) to determine whether CRINET is a distinct entity or a variant of AT/RT. The study contained 1… (full text at CIViC)

PMID 27380723 · Johann et al., 2017 · Open in CIViC