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GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia
- Publication Year :
- 2015
- Publisher :
- American Society of Hematology, 2015.
-
Abstract
- Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in patients with familial myelodysplastic syndrome/acute myeloid leukemia, monocytopenia and mycobacterial infections, Emberger syndrome, and dendritic cell, monocyte, B-, and NK-cell deficiency. GATA2 mutations have also been reported in a minority of patients with congenital neutropenia and aplastic anemia (AA). The bone marrow (BM) from patients with GATA2 deficiency is typically hypocellular, with varying degrees of dysplasia. Distinguishing GATA2 patients from those with AA is critical for selecting appropriate therapy. We compared the BM flow cytometric, morphologic, and cytogenetic features of 28 GATA2 patients with those of 32 patients being evaluated for idiopathic AA. The marrow of GATA2 patients had severely reduced monocytes, B cells, and NK cells; absent hematogones; and inverted CD4:CD8 ratios. Atypical megakaryocytes and abnormal cytogenetics were more common in GATA2 marrows. CD34(+) cells were comparably reduced in GATA2 and AA. Using these criteria, we prospectively identified 4 of 32 patients with suspected AA who had features suspicious for GATA2 mutations, later confirmed by DNA sequencing. Our results show that routine BM flow cytometry, morphology, and cytogenetics in patients who present with cytopenia(s) can identify patients for whom GATA2 sequencing is indicated.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Anemia
Clinical Trials and Observations
Immunology
Antigens, CD34
Monocytopenia
Gene mutation
Biochemistry
Cohort Studies
Cytogenetics
Young Adult
Bone Marrow
medicine
Humans
Aplastic anemia
Congenital Neutropenia
Bone Marrow Diseases
Cytopenia
GATA2 Deficiency
business.industry
Anemia, Aplastic
Cell Biology
Hematology
Sequence Analysis, DNA
Middle Aged
medicine.disease
Flow Cytometry
Immunohistochemistry
GATA2 Transcription Factor
medicine.anatomical_structure
Mutation
Female
Bone marrow
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....d04797c4760e356dc47b0502f630edc5