20 Classical Phenotype-Genotype Causations
20.1 Overview of genes associated with inherited predisposition to myeloid neoplasms
20.2 Germline predisposition syndromes with increased risk of myeloid neoplasm development
20.3 Inherited Thrombocytiopenia
Immune Thrombocytopenias to consider which may also present with thrombocytopenia with normal platelet size include
- RUNX1-related thrombocytopenia (RUNX1-RT)–> 30-40% lifetime risk of developing MDS/AML
- ETV6-related thrombocytopenia (ETV6-RT)–> 20% lifetime risk of B-ALL with a 30% overall lifetime risk of hematological malignancy
- ANKRD26-RT
- CYCS-related thrombocytopenia (CYCS-RT)
20.4 Familial CLL
It is common
POT1 (~6% of familial cases)
DDX41
TERF2IP
TP53