Abstract
We report dysmegakaryopoiesis in a case of familial platelet disorder with predisposition to acute myeloid leukemia (familial platelet disorder/acute myeloid leukemia phenotype Mendelian Inheritance in Man number 601 399). Slight reduction of the number of megakaryocytes with high nucleocytoplasmic ratio, strongly basophilic cytoplasm and poorly lobulated nuclei are suggestive of megakaryocytic dysplasia.
MeSH terms
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Blood Platelet Disorders / diagnosis*
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Blood Platelet Disorders / genetics
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Blood Platelets / cytology*
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Blood Platelets / pathology
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Child, Preschool
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Core Binding Factor Alpha 2 Subunit / genetics
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Family
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Humans
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Leukemia, Myeloid, Acute / diagnosis*
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Leukemia, Myeloid, Acute / genetics
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Male
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Megakaryocytes / pathology*
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Pedigree
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Thrombocytopenia / diagnosis*
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Thrombocytopenia / genetics
Substances
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Core Binding Factor Alpha 2 Subunit
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RUNX1 protein, human