Peripheral blood
Peripheral blood with hypogranular pelgeroid neutrophil
No Image is attached in this Figure.
Aspriate smear
Aspriate smear with atypical megakaryocyte with separated nuclear lobes
(RCC, GATA2 deficiency related).
No Image is attached in this Figure.
Bone Marrow
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.
No Image is attached in this Figure.
Core Biopsy
Core biopsy showing megakaryocytic atypia with hypolobated forms and a form with separated nuclei.
No Image is attached in this Figure.
Core biopsy reticulin stain
Core biopsy reticulin stain shows increased reticulin fibers and evidence of reticulin fibrosis
No Image is attached in this Figure.
Factor VIIIvw immunohistochemistry stain
Factor VIIIvw immunohistochemistry stain highlights atypical megakaryocytes showing range in size with small mononuclear forms.
No Image is attached in this Figure.
