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Refractory cytopenia of childhood, GATA2 deficiency related Biopsy
Author:
Katherine Calvo, MD, PhD
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Myelodysplastic Syndromes (MDS) > Refractory cytopenia of childhood (provisional)
Published Date: 02/21/2016
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Myelodysplastic Syndromes (MDS) > Refractory cytopenia of childhood (provisional)
Published Date: 02/21/2016
15 y/o male with pancytopenia, severe monocytopenia, B-lymphopenia and NK-lymphopenia.
History of disseminated MAC and warts. 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.
