|
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
|
24738973 |
2015 |
|
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
|
22693284 |
2012 |
|
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
|
22693284 |
2012 |
|
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
|
22693284 |
2012 |
|
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We point out the telltale immunophenotypes: angiolymphoid hyperplasia with eosinophilia and EH (FOS-B/others negative), PM-HAE (FOS-B/AE1/AE3/others negative), epithelioid hemangioendothelioma (CAMTA-1 or TFE-3/others negative).
|
29266025 |
2019 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Care should be taken to identify such cells in limited biopsies; immunohistochemistry for CAMTA1, a specific and sensitive marker for EHE, can be confirmatory.
|
30664032 |
2019 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
A WWTR1-CAMTA1 fusion is present in most classic epithelioid hemangioendothelioma, regardless of their clinical behavior, suggesting that additional genetic abnormalities might be responsible in driving a more aggressive biology.
|
31537895 |
2019 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future.
|
28855107 |
2018 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 10% of EHEs that lack the TAZ⁻CAMTA1 fusion instead have a fusion of Yes-associated Protein (YAP) and Transcription Factor E3 (TFE3) genes (YAP-TFE3).
|
29996478 |
2018 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1-negative epithelioid hemangioendotheliomas arising in soft tissue, bone, and lung, but not in liver.
|
28585251 |
2017 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Of note, the FOSB-positive epithelioid hemangioendothelioma was negative for CAMTA1 and TFE3.
|
28009608 |
2017 |
|
Epithelioid hemangioendothelioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Genetic characterization of several soft tissue tumour types that occur in the skin has resulted in the identification of diagnostically useful markers: ALK gene rearrangement with corresponding ALK protein expression by immunohistochemistry in epithelioid fibrous histiocytoma; the WWTR1-CAMTA1 fusion gene with CAMTA1 protein expression in epithelioid haemangioendothelioma; MYC amplification and overexpression in radiation-associated angiosarcoma; and EWSR1 gene rearrangement in cutaneous myoepithelial tumours.
|
26763770 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic studies also led to the finding that WWTR1-CAMTA1 fusions are useful diagnostic markers for epithelioid hemangioendotheliomas, which can present as pleural-based masses.
|
26811225 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Interestingly, we observed CAMTA1 gene break-apart in all of the five TFE3-positive EHEs via FISH assays, and four out of the five TFE3-positive EHEs exhibited WWTR1-CAMTA1 gene fusions via RT-PCR.
|
26840265 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The WWTR1 (protein is known as TAZ)-CAMTA1 (WC) fusion gene defines epithelioid hemangioendothelioma, a malignant vascular cancer.
|
25961935 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Instead, WWTR1-CAMTA1 and YAP1-TFE3 fusion genes are found in almost all cases of epithelioid haemangioendothelioma.
|
26050962 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fourteen of 18 informative cases were positive for WWTR1-CAMTA1 fusion transcripts, four of which showed higher-grade cytological features termed by some as 'malignant EHE'.
|
25817592 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas.
|
25680571 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fluorescence in situ hybridization analysis showed CAMTA1-WWTR1 fusions in 4/7 low-grade and 23/23 intermediate-grade EHE (P<0.001).
|
25353289 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
FusionGene
|
disease |
ORPHANET |
Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases.
|
24986479 |
2014 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Epithelioid hemangioendothelioma with extensive cystic change and CAMTA1 rearrangement.
|
24134632 |
2013 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Conventional epithelioid hemangioendotheliomas (EHE) have a distinctive morphologic appearance and are characterized by a recurrent t(1;3) translocation, resulting in a WWTR1-CAMTA1 fusion gene.
|
23737213 |
2013 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE.
|
22429593 |
2012 |