Article

More than just mild thrombocytopenia: clinical clues in the diagnosis of germline predisposition to malignancy from a novel ETV6 variant

2022-08-09

Abstract excerpt

We report the diagnostic approach to mild and non-specific thrombocytopenia with unclear genetic findings in two sisters. Genetic sequencing revealed a novel variant in ETS Variant Transcription Factor 6, which is associated with inherited thrombocytopenia with predisposition to hematologic malignancy. Familial studies provided sufficient evidence for a likely pathogenic classification.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fec819e9-a97b-57c4-8354-fa5d2a58c490
DOI: 10.22541/au.166005545.51115233/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

More than just mild thrombocytopenia: clinical clues in the diagnosis of germline predisposition to malignancy from a novel ETV6 variantDOI 10.22541/au.166005545.51115233/v1Read

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancySemantic proximity Read

Germline ETV6 mutations and predisposition to hematological malignancies.Semantic proximity Read

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.Semantic proximity Read

Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood.Semantic proximity Read

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.Semantic proximity Read

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.Semantic proximity Read

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasiaSemantic proximity Read

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and ThrombocytopeniaSemantic proximity Read

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.Semantic proximity Read