Familial macro thrombocytopenia: role of genetics where morphology fails

We report a young girl with family history of thrombocytopenia and hearing loss who presented with kidney dysfunction and later developed acute lymphoblastic leukemia. She lacked the characteristic inclusion bodies in her blood granulocytes, however a diagnosis of MYH9-related Epstein syndrome was confirmed on genetic testing. In the background of known causal association of MYH9 gene in solid organ malignancies, the role of MYH9 gene variant in malignant transformation in the index case remains conjectural.
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: CASE REPORTS Source Type: research