Table 3.

Genes of Interest in the Differential Diagnosis of RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies

GeneDiffDx DisorderMOIClinical Features of DiffDix Disorder
Overlapping w/RUNX1-FPDMMDistinguishing from RUNX1-FPDMM
ANKRD26 ANKRD26-related thrombocytopenia ADNonsyndromic thrombocytopenia w/normal platelet size & predisposition to myeloid neoplasmsSome persons may have erythrocytosis (hemoglobin ≤18.5 g/dL) & leukocytosis.
CEBPA CEBPA-associated familial acute myeloid leukemia ADFamilial predisposition to AML & thrombocytopeniaLeukopenia (w/↑ infections) & anemia
DDX41 DDX41-associated familial MDS/AML ADFamilial predisposition to MDS/AMLSome persons may have erythroid or megakaryocytic dysplasia.1
ETV6 ETV6-related thrombocytopenia ADNonsyndromic thrombocytopenia w/normal platelet size & predisposition to myeloid neoplasmsCan have red cell macrocytosis & neutropenia; predisposes to lymphoid malignancy
GATA2 GATA2 deficiencyADFamilial predisposition to MDS/AMLImmunodeficiency (↓ or absent monocytes & B- & NK-cell lymphocytes)
SRP72 Bone marrow failure syndrome 1 (OMIM 614675)ADFamilial predisposition to MDSAplastic anemia, pancytopenia
TP53 Li-Fraumeni syndrome ADFamilial predisposition to MDS/AMLHigh penetrance for non-hematologic cancers (breast cancer, osteosarcoma, soft tissue sarcomas)

AD = autosomal dominant; AML = acute myeloid leukemia; DiffDx = differential diagnosis; MDS = myelodysplastic syndrome; MOI = mode of inheritance; RUNX1-FPDMM = RUNX1 familial platelet disorder with associated myeloid malignancies

1.

From: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies

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