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Spectrum of Myeloid Neoplasms and Immune Deficiency Associated With Germline GATA2 Mutations


Spectrum of Myeloid Neoplasms and Immune Deficiency Associated With Germline GATA2 Mutations

Muhammad A Mir et al. Cancer Med.


Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature.

Keywords: GATA2; MonoMAC; leukemia; lymphedema; viral warts.


Figure 1
Figure 1
Genotype/phenotype relations of GATA2 mutations.
Figure 2
Figure 2
Family Tree of Proband 1 with the GATA2 c.1339A>C.pS447R mutation.
Figure 3
Figure 3
Years post allogeneic HSCT for GATA2 mutation Spinner et al. [53]HSCT, 5 hematopoietic stem cell transplant.

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