Neoplasm by Special Category

A subset of renal neoplasms of children and young adults contains t(6;11)(p21;q12), fusion of the MALAT1 (Alpha) gene with the transcription factor gene TFEB. Argani, et al. (2005) included 7 renal ne… (full text at CIViC)

PMID 15644781 · Argani et al., 2005 · Open in CIViC

In this 2022 study, the authors investigate the oncogenic role of the MYB::TYK2 fusion gene in high-risk B-lymphoblastic leukemia (HR B-ALL). TYK2 rearrangements are identified as recurrent events in … (full text at CIViC)

PMID 35022522 · Shirazi et al., 2022 · Open in CIViC

Expression of WDR12 was found to be significantly higher in tumour than normal tissue from TCGA LGG and GBM datasets. Kaplan-Meier analysis showed high WDR12 expression to be significantly associated … (full text at CIViC)

PMID 32180229 · Li et al., 2020 · Open in CIViC

This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes. Incidence is less than 3% in most cohorts so its relevance remains unclear.

PMID 29641966 · Schmitz et al., 2018 · Open in CIViC

Significant WEE1 protein overexpression was detected by IHC in VUMC-DIPG-1 tissue isolated from a patient's frontal lobe. Significant WEE1 protein levels were also found in E98-FM glioma cells. An i… (full text at CIViC)

PMID 23270927 · Caretti et al., 2013 · Open in CIViC

Two mouse xenograft models were used: one of tumor cells from a genetically engineered mouse with a BRAF V600E mutation, and the other using a patient's DIPG cells (SF8628). SF8628 was found to have … (full text at CIViC)

PMID 24305702 · Mueller et al., 2014 · Open in CIViC

The presence of the WEE1 polymorphism rs3910384 correlated with OS and PFS of NSCLC patients treated with platinum-based chemotherapy. Especially the combination of two DNA-damaging agents was associa… (full text at CIViC)

PMID 26057002 · Liu et al., 2015 · Open in CIViC

Described in recent genome-wide study of BL and DLBCL

PMID 36201743 · Thomas et al., 2023 · Open in CIViC

Expression of secreted factor Wnt-11 is increased in several types of cancer, including colorectal cancer, where it promotes cancer cell migration and invasion. Analysis of colorectal cancer gene expr… (full text at CIViC)

PMID 31261741 · Gorroño-Etxebarria et al., 2019 · Open in CIViC

In the AOM–DSS mouse colon tumor model (n = 8/group), aspirin (28 mg/kg/day) reduced tumor number and decreased epithelial proliferation (Ki67 and BrdU staining) and lowered circulating pro-inflammato… (full text at CIViC)

PMID 34033814 · Feng et al., 2021 · Open in CIViC

Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC)

PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC

No differences in relapse-free or overall survival were identified between young (16-60) patients with or without WT1 mutations (69% exon 7, 15% exon 9) in cytogenetically normal AML.

PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC

Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC)

PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC

WT1 mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients.

PMID 18559874 · Paschka et al., 2008 · Open in CIViC

WT1 mutations (documented across the protein) appear more frequently and impact new sites in childhood AML as compared to adult AML. The co-occurrence of a FLT3-ITD with WT1 mutations (and/or NUP98-NS… (full text at CIViC)

PMID 29227476 · Bolouri et al., 2018 · Open in CIViC

The authors applied exome sequencing to 14 relapsed/refractory (R/R) DLBCLs

PMID 26608593 · Mareschal et al., 2016 · Open in CIViC

The XRCC1 R399Q variant was significantly correlated with higher overall survival in non-small cell lung carcinoma (NSCLC) patients treated with gemcitabine and platinum. 62 patients with either Stage… (full text at CIViC)

PMID 22551904 · Liao et al., 2012 · Open in CIViC

The XRCC1 R399Q variant was correlated with increased response to platinum-based neoadjuvant chemotherapy in patients with cervical cancer. Tumor samples from 36 patients with Stage IB or IIA bulky (g… (full text at CIViC)

PMID 16875718 · Chung et al., 2006 · Open in CIViC

The XRCC1 R194W variant was shown to be correlated with increased chance of response to platinum-based chemotherapy in Stage IV Non-small Cell Lung Carcinoma (NSCLC). 82 patients with Stage IV NSCLC w… (full text at CIViC)

PMID 19157633 · Sun et al., 2009 · Open in CIViC

In this study, the sensitivity to Cisplatin (a platinum-based drug) was studied in XRCC3 knockout, and ORC1 mutant PDX models. A role of XRCC3 loss in cisplatin sensitivity was reported in the study. … (full text at CIViC)

PMID 37029129 · Ter Brugge et al., 2023 · Open in CIViC

A total of 15 pediatric patients with supratentorial ependymomas harboring YAP1::MAMLD1 fusions were reported. In all 15 cases, YAP1::MAMLD1 fusions were confirmed by RT-PCR and sequencing. In the ma… (full text at CIViC)

PMID 30246434 · Andreiuolo et al., 2019 · Open in CIViC

YAP1 up-regulation of EGFR plays an important role in conferring therapy resistance to 5-FU or docetaxel in esophageal cancer (EC) cells. Inhibitor of YAP1, Verteporfin, can overcome the acquired chem… (full text at CIViC)

PMID 25739674 · Song et al., 2015 · Open in CIViC

YAP1 up-regulation of EGFR plays an important role in conferring therapy resistance to 5-FU or docetaxel in esophageal cancer (EC) cells. Inhibitor of YAP1, Verteporfin, can overcome the acquired chem… (full text at CIViC)

PMID 25739674 · Song et al., 2015 · Open in CIViC

This is a case report of a 26-year-old male patient who sufferred 3 grand mal seizures and was found to have a left frontal lobe ependymoma with a YAP1::FAM118B fusion. No other genetic alterations we… (full text at CIViC)

PMID 33480048 · Wang et al., 2021 · Open in CIViC

DNA methylation profiling of 500 ependymal tumors identified 9 molecular profiles with 3 occurring in the supratentorial compartment (designated ST EPN). RNA sequencing performed in 7 of the 13 cases… (full text at CIViC)

PMID 25965575 · Pajtler et al., 2015 · Open in CIViC

In preclinical small cell lung carcinoma (SCLC) models with YES1 amplification or high expression, treatment with the YES1 inhibitor CH6953755 (30 mg/kg, q2d) or dasatinib (45 mg/kg daily) produced ma… (full text at CIViC)

PMID 35988891 · Redin et al., 2022 · Open in CIViC

In this 2012 study O’Meara et al. included 51 clear cell sarcoma of kidney (CCSK). Using an index CCSK with the t(10;17)(q22;p13) identified by cytogenetics, they were able to map the breakpoints and … (full text at CIViC)

PMID 22294382 · O'Meara et al., 2012 · Open in CIViC

In this 2020 study Kenny et al. included 68 cases of clear cell sarcoma of the kidney (CCSK). Using RT-PCR with RNA extracted from FFPE tumour tissue they detected a YWHAE::NUTM2 fusion transcript in… (full text at CIViC)

PMID 32364435 · Kenny et al., 2020 · Open in CIViC

A 64-year-old man presented with splenomegaly, peripheral eosinophilia, and bone marrow findings consistent with myeloproliferative neoplasm with eosinophilia. Cytogenetic analysis identified a balanc… (full text at CIViC)

PMID 32866288 · Zhou et al., 2020 · Open in CIViC

An adult patient (>18 years old) with B-ALL harbored an in-frame ZC3HAV1::ABL2 fusion, identified by targeted RNA sequencing, with no IKZF1 deletion, and presented with a white blood cell count of 72 … (full text at CIViC)

PMID 33781217 · Norvilas et al., 2021 · Open in CIViC

A 10-year-old female (Case #62) with B-ALL harbored a ZC3HAV1::ABL2 fusion and a PAX5 deletion. The fusion was identified by RNA sequencing and confirmed by RT-PCR and Sanger sequencing; breakpoints w… (full text at CIViC)

PMID 27265895 · Lilljebjörn et al., 2016 · Open in CIViC

In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC)

PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC