Table 2.

Genes of Interest in the Differential Diagnosis of ETV6 Thrombocytopenia and Predisposition to Leukemia

GeneDisorder 1Associated MalignanciesHematologic Findings
ANKRD26 ANKRD26 thrombocytopenia MDS/AML
AUL
CLL
CML		Thrombocytopenia
CYCS Thrombocytopenia 4 (OMIM 612004)NoneThrombocytopenia w/normal-sized platelets
FLI1 Bleeding disorder, platelet type 21 (OMIM 617443)NoneThrombocytopenia w/large platelets
RUNX1 Familial platelet disorder / acute myeloid leukemia MDS/AML
T-ALL
Hairy cell leukemia		Thrombocytopenia (can have normal platelet counts)

AML = acute myeloid leukemia; AUL = acute undifferentiated leukemia; CLL = chronic lymphocytic leukemia; CML = chronic myeloid leukemia; MDS = myelodysplastic syndrome; T-ALL = T-cell acute lymphoblastic leukemia

1.

Disorders in this table are inherited in an autosomal dominant manner.

From: ETV6 Thrombocytopenia and Predisposition to Leukemia

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