Peripheral blood with hypogranular pelgeroid neutrophil

Aspriate smear with atypical megakaryocyte with separated nuclear lobes

(RCC, GATA2 deficiency related).

The bone marrow shows a hypocellular

marrow for age with atypical megakaryocytes and no increase in blasts. Cytogenetic analysis of the marrow showed an abnormal karyotype involving  monosomy 7.  DNA sequencing revealed a germline mutation in GATA2. Diagnosis:  Refractory cytopenia of childhood, GATA2 deficiency related.

Core biopsy showing megakaryocytic atypia with hypolobated forms and a form with separated nuclei.

Core biopsy reticulin stain shows increased reticulin fibers and evidence of reticulin fibrosis

Factor VIIIvw immunohistochemistry stain highlights atypical megakaryocytes showing range in size with small mononuclear forms.