Figure 2.
BMs with CMML, AML, and MDS with excess blasts on initial presentation with GATA2 deficiency. (A-D) A 17-year-old healthy male with family history of GATA2 deficiency (c.1017+572C>T) and AML (mother), MDS (aunt), and CMML (grandfather), presented for his initial evaluation. White blood cell counts of 15.6 × 103/μL. (A) Peripheral blood smear with leukocytosis and circulating blasts (6%), monocytosis (1.5 × 103/μL), and left-shifted granulocytes. (B) BM aspirate showing marked megakaryocytic dysplasia with dysplastic myelopoiesis (inset). (C) BM core biopsy was markedly hypercellular. (D) CD34 IHC on the marrow biopsy showed increased blasts. Cytogenetic analysis revealed monosomy 7, and myeloid next-generation sequencing analysis detected ASXL1, SETBP1, and U2AF1 mutations. Findings indicative of CMML. (E-H) A 21-year-old male presented with fatigue and pancytopenia with no history of infections or family history of myeloid malignancy. (E) BM aspirate with sheets of blasts confirmed by flow cytometry as myeloblasts. (F) BM core biopsy was hypocellular for age. (G) CD34 IHC on the marrow biopsy showed marked increase in blasts >50%. (H) CD117 IHC highlighting the blasts. Monosomy 7 detected on cytogenetic analysis. The patient was diagnosed with AML and subsequently found to have a germ line mutation in GATA2 (T354M). (I-L) A 39-year-old female who was a healthy relative of a proband with GATA2 deficiency (R398W), was recently found to be positive for the mutation and presented for evaluation. Peripheral blood counts were normal to slightly decreased. (I) BM aspirate with increased blasts (∼10%). (J) BM core biopsy was normocellular. (K) CD34 IHC showing increased blasts (∼10%). (L) CD61 IHC staining MKs with a few small forms. The patient was diagnosed with MDS with excess blasts. All peripheral blood and BM aspirates were stained with Wright-Giemsa stain at 1000×. Core biopsies were stained with H&E or IHC as indicated. Images were taken using an Olympus BX41 microscope equipped with a DP74 camera using Olympus cellSens software.

BMs with CMML, AML, and MDS with excess blasts on initial presentation with GATA2 deficiency. (A-D) A 17-year-old healthy male with family history of GATA2 deficiency (c.1017+572C>T) and AML (mother), MDS (aunt), and CMML (grandfather), presented for his initial evaluation. White blood cell counts of 15.6 × 103/μL. (A) Peripheral blood smear with leukocytosis and circulating blasts (6%), monocytosis (1.5 × 103/μL), and left-shifted granulocytes. (B) BM aspirate showing marked megakaryocytic dysplasia with dysplastic myelopoiesis (inset). (C) BM core biopsy was markedly hypercellular. (D) CD34 IHC on the marrow biopsy showed increased blasts. Cytogenetic analysis revealed monosomy 7, and myeloid next-generation sequencing analysis detected ASXL1, SETBP1, and U2AF1 mutations. Findings indicative of CMML. (E-H) A 21-year-old male presented with fatigue and pancytopenia with no history of infections or family history of myeloid malignancy. (E) BM aspirate with sheets of blasts confirmed by flow cytometry as myeloblasts. (F) BM core biopsy was hypocellular for age. (G) CD34 IHC on the marrow biopsy showed marked increase in blasts >50%. (H) CD117 IHC highlighting the blasts. Monosomy 7 detected on cytogenetic analysis. The patient was diagnosed with AML and subsequently found to have a germ line mutation in GATA2 (T354M). (I-L) A 39-year-old female who was a healthy relative of a proband with GATA2 deficiency (R398W), was recently found to be positive for the mutation and presented for evaluation. Peripheral blood counts were normal to slightly decreased. (I) BM aspirate with increased blasts (∼10%). (J) BM core biopsy was normocellular. (K) CD34 IHC showing increased blasts (∼10%). (L) CD61 IHC staining MKs with a few small forms. The patient was diagnosed with MDS with excess blasts. All peripheral blood and BM aspirates were stained with Wright-Giemsa stain at 1000×. Core biopsies were stained with H&E or IHC as indicated. Images were taken using an Olympus BX41 microscope equipped with a DP74 camera using Olympus cellSens software.

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