Malignant Neoplasm

This study screened 983 Renal Cell Carcinoma (RCC) cases and identified 65 tumors with morphologic features suspicious of RCC with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC). TFE3 immunohistoc… (full text at CIViC)

PMID 26169997 · He et al., 2015 · Open in CIViC

Argani. et al,. (2016) included a total of 60 cases with known TFE3 gene rearrangements in this study of Xp11 translocation positive neoplasms (47 RCC, 8 PEComa, and 5 melanotic renal cancers). The ag… (full text at CIViC)

PMID 26975036 · Argani et al., 2016 · Open in CIViC

Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of 90 translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE g… (full text at CIViC)

PMID 34986355 · Bakouny et al., 2022 · Open in CIViC

This study screened 983 Renal Cell Carcinoma (RCC) cases and identified 65 tumors with morphologic features suspicious of RCC with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC). TFE3 immunohistoc… (full text at CIViC)

PMID 26169997 · He et al., 2015 · Open in CIViC

This study evaluates 200 nephrectomy cases. Within the 200 cases, there are four cases that are Xp11.2 translocation renal cell carcinomas (RCC). Previous studies identified two stages (pediatric and … (full text at CIViC)

PMID 34917511 · Ge et al., 2021 · Open in CIViC

A study of 443 renal cell carcinoma identified 7 cases with an Xp11 translocation. The median age of the 7 patients was 41 years (range, 15 to 59 years). Of the 244 cases with a successful karyotype, … (full text at CIViC)

PMID 19228722 · Komai et al., 2009 · Open in CIViC

Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE gene… (full text at CIViC)

PMID 34986355 · Bakouny et al., 2022 · Open in CIViC

Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and are characterized by a specific chromosome translocation involving the transcription factor EB (TFEB). Identification of eithe… (full text at CIViC)

PMID 22895266 · Rao et al., 2012 · 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

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

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