Familial macro thrombocytopenia: role of genetics where morphology fails

: Myosin heavy chain 9 (MYH9)-related disorders are rare inherited platelet disorders that are accompanied by a wide variety of systemic abnormalities. The persistent thrombocytopenia is usually asymptomatic and these patients are often misdiagnosed and treated as immune thrombocytopenia. MYH9 gene has been studied in association with solid organ malignancies. 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.