|
Adult Myelodysplastic Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Loss and gain of GATA2 expression has been implicated in myelodysplastic syndrome and acute myeloid leukemia (AML) yet the precise biological impact of GATA2 expression on human AML cell fate decisions remains ambiguous.
|
31434974 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome.
|
30933029 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with GATA2 mutation have a high risk of developing myelodysplastic syndrome or acute myeloid leukemia.
|
31035956 |
2019 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome.
|
29189513 |
2018 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence GATA2.
|
29882021 |
2018 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with GATA2 (Emberger syndrome) deficiency needs early hematopoietic stem cell transplant (HSCT) before evolving in to myelodysplastic syndrome or acute myeloid leukemia and with time given compromised organ dysfunction leads to increase regimen-related toxicities.
|
28234738 |
2017 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A 61-year-old woman with NK-cell deficiency and GATA-2-associated myelodysplastic syndrome, status post-recent allogeneic HSCT (Day +58), presented with 3 days of acute-onset severe back pain, muscle cramps, and increasingly dark urine.
|
28905389 |
2017 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Referral reasons included (1) bone marrow failure or myelodysplastic syndrome in patients ≤ 50 years, (2) evaluation for germ-line inheritance of identified RUNX1, GATA2, or CEBPA mutations on targeted next-generation sequencing panels, and (3) strong personal and/or family history of malignancy.
|
27210295 |
2016 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells).
|
27013649 |
2016 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GATA2 have been implicated in the development of myelodysplastic syndrome and acute myeloid leukemia (AML).
|
24514424 |
2014 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the master regulator of hematopoiesis GATA-2 underlie an immunodeficiency associated with myelodysplastic syndrome and leukemia.
|
25056917 |
2014 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
|
22271902 |
2012 |
|
Adult Myelodysplastic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
|
21892162 |
2011 |