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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 <jats:italic>RUNX1<\/jats:italic>, <jats:italic>ANKRD26,<\/jats:italic> and <jats:italic>ETV6<\/jats:italic>. Patients may present with isolated thrombocytopenia and megakaryocytic dysmorphia or atypia on baseline bone marrow evaluation, without constituting myelodysplasia (MDS). Bone marrow features may overlap with idiopathic thrombocytopenic purpura (ITP) or sporadic MDS leading to misdiagnosis. Progression to myelodysplastic syndrome\/ acute myeloid leukemia (MDS\/AML) may be accompanied by progressive bi\u2010 or pancytopenia, multilineage dysplasia, increased blasts, cytogenetic abnormalities, acquisition of bi\u2010allelic mutations in the underlying gene with germline mutation, or additional somatic mutations in genes associated with myeloid malignancy. A subset of patients may present with MDS\/AML at a young age, underscoring the growing concern for evaluating young patients with MDS\/AML for germline mutations predisposing to myeloid neoplasm. Early recognition of germline mutation and predisposition to myeloid malignancy permits appropriate treatment, adequate monitoring for disease progression, proper donor selection for hematopoietic stem cell transplantation, as well as genetic counseling of the affected patients and their family members. Herein, we describe the clinical and diagnostic features of IT with germline mutations predisposing to myeloid neoplasms focusing on mutations involving <jats:italic>RUNX1, ANKRD26,<\/jats:italic> and <jats:italic>ETV6<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/ijlh.12999","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T05:29:15Z","timestamp":1557379755000},"page":"131-141","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia"],"prefix":"10.1111","volume":"41","author":[{"given":"Pallavi","family":"Galera","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Hematology Section, Clinical Center National Institutes of Health (NIH) Bethesda 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