|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
The ETV6, CDKN1B and D12S178 loci are involved in a segment commonly deleted in various 12p aberration in different hematological malignancies.
|
8978784 |
1996 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recently, autosomal dominant germline ETV6 mutations were discovered in families with inherited thrombocytopenia and a propensity to develop hematological malignancy, unequivocally demonstrating a role for ETV6 in leukemogenesis.
|
28637624 |
2017 |
|
Hematologic Neoplasms
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6 ) is involved in only one half.
|
9389705 |
1997 |
|
Hematologic Neoplasms
|
0.500 |
AlteredExpression
|
group |
BEFREE |
TEL is a new member of the ETS family of transcription factors which is rearranged in a number of hematologic malignancies with translocations involving chromosome band 12p13.
|
7795247 |
1995 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
FISH analyses and loss of heterozygosity studies have delineated a commonly deleted region in hematological malignancies flanked by ETV6 and CDKN1B on chromosome 12p12.3.
|
10036184 |
1999 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy.
|
31248877 |
2019 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genetic alterations in the transcriptional repressor ETV6 are associated with hematological malignancies.
|
30341373 |
2018 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These observations suggest that the disruption of ETV6 and/or ACS2 may lead to the pathogenesis of hematologic malignancies with t(5;12)(q31;p13).
|
10502316 |
1999 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
The translocation results in the fusion of two known genes, ETV6/TEL(12p13) and AML1(21q22), both of which have been shown to be involved in other hematological malignancies.
|
9839313 |
1998 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
To characterize the incidence, clinical features and genetics of ETV6-ABL1 leukemias, representing targetable kinase-activating lesions, we analyzed 44 new and published cases of ETV6-ABL1-positive hematologic malignancies [22 cases of acute lymphoblastic leukemia (13 children, 9 adults) and 22 myeloid malignancies (18 myeloproliferative neoplasms, 4 acute myeloid leukemias)].
|
27229714 |
2016 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
CTD_human |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Leukemias harboring the ETV6-ABL1 fusion represent a rare subset of hematological malignancies with unfavorable outcomes.
|
28650474 |
2017 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy.
|
27663637 |
2017 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Identification of new partner chromosomes involved in fusions with the ETV6 (TEL) gene in hematologic malignancies.
|
9523197 |
1998 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
The ETV6 gene encodes an ETS family transcription factor that is involved in a myriad of chromosomal rearrangements found in hematological malignancies and other neoplasms.
|
26584717 |
2015 |
|
Hematologic Neoplasms
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The human TEL gene is involved in several 12p13 chromosomal abnormalities present in various human hematological malignancies, the most frequent being the t(12;21)(p13;q22), specific for childhood acute lymphoblastic leukemia.
|
9018121 |
1997 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
ETV6-ABL1 fusion is a rare but recurrent genetic aberration found in various hematologic malignancies involving both the lymphoid and myeloid lineage, but to the best of our knowledge, CMML is an exceptionally rare presentation of ETV6-ABL1 rearranged neoplasm.
|
31425923 |
2019 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
The ETV6 gene has been reported to be fused to a multitude of partner genes in various hematologic malignancies with 12p13 aberrations.
|
18281529 |
2008 |
|
Hematologic Neoplasms
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Two known genes map within the critically deleted region of 12p: TEL, the gene encoding a new member of the ETS family of transcription factors, which is rearranged in a variety of hematological malignancies; and KIP1, the gene encoding the cyclin-dependent kinase inhibitor p27.
|
8640833 |
1996 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
This case reiterates the importance of correlating morphologic and phenotypic findings with the results of cytogenetic analysis to avoid errors in diagnosing hematologic neoplasms and highlights the rare association of B-cell non-Hodgkin lymphoma with aberrations of TEL.
|
18992913 |
2009 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
HDAC9 interacts and co-localizes in vivo with a number of transcriptional repressors and co-repressors, including TEL and N-CoR, whose functions have been implicated in the pathogenesis of hematological malignancies.
|
12590135 |
2003 |
|
Hematologic Neoplasms
|
0.500 |
Biomarker
|
group |
BEFREE |
The TEL gene on 12p12-13 is a target for a number of translocations associated with various hematological malignancies.
|
11159536 |
2001 |