Germline GATA2 Mutation and Bone Marrow Failure - 10/07/18

Doi : 10.1016/j.hoc.2018.04.004

Lisa J. McReynolds, MD, PhD ^a,^⁎ , Katherine R. Calvo, MD, PhD ^b, Steven M. Holland, MD ^c
^a Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Bethesda, MD 20892, USA
^b Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
^c Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA

^∗Corresponding author.

Resumen

GATA2 deficiency is an immunodeficiency and bone marrow failure disorder caused by pathogenic variants in GATA2. It is inherited in an autosomal-dominant pattern or can be due to de novo sporadic germline mutation. Patients commonly have B-cell, dendritic cell, natural killer cell, and monocytopenias, and are predisposed to myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia. Patients may suffer from disseminated human papilloma virus and mycobacterial infections, pulmonary alveolar proteinosis, and lymphedema. The bone marrow eventually takes on a characteristic hypocellular myelodysplasia with loss of monocytes and hematogones, megakaryocytes with separated nuclear lobes, micromegakaryocytes, and megakaryocytes with hypolobated nuclei.

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Keywords : GATA2, Monocytopenia, Micromegakaryocytes, MDS