Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
BEFREE |
Regardless of age of presentation and severity of symptoms related to thrombocytopenia and/or platelet dysfunction, a subset of patients with IT are at increased risk of developing myeloid neoplasms during their life time, particularly those with germline autosomal dominant mutations in RUNX1, ANKRD26, and ETV6.
|
31069978 |
2019 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
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 |
Thrombocytopenia
|
0.690 |
Biomarker
|
phenotype |
BEFREE |
The occurrence of grade 3-4 anemia and thrombocytopenia is higher in the TEL group (52.5% vs. 10.0% and 34.4% vs. 1.7% respectively).
|
29483583 |
2018 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
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 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
BEFREE |
We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel.
|
27663637 |
2017 |
Thrombocytopenia
|
0.690 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Thrombocytopenia
|
0.690 |
Biomarker
|
phenotype |
BEFREE |
The degree of thrombocytopenia and bleeding tendency of the patients with ETV6-related thrombocytopenia were mild, but four subjects developed B-cell acute lymphoblastic leukemia during childhood, resulting in a significantly higher incidence of this condition compared to that in the general population.
|
27365488 |
2016 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
BEFREE |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
Thrombocytopenia
|
0.690 |
Biomarker
|
phenotype |
CTD_human |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
BEFREE |
A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocytopenia, ALL and secondary myelodysplasia/acute myeloid leukemia.
|
26102509 |
2015 |
Thrombocytopenia
|
0.690 |
GeneticVariation
|
phenotype |
BEFREE |
Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV.
|
25807284 |
2015 |
Thrombocytopenia
|
0.690 |
Biomarker
|
phenotype |
CTD_human |
Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV.
|
25807284 |
2015 |
Thrombocytopenia
|
0.690 |
CausalMutation
|
phenotype |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
Thrombocytopenia
|
0.690 |
Biomarker
|
phenotype |
HPO |
|
|
|