Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Susceptibility to myelodysplastic syndrome

Susceptibility to myelodysplastic syndrome is transmitted by heterozygous GATA2 mutations.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
Myelofibrosis
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
Somatic erythrocytosis
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome
GATA2

References:

1.

Hahn CN et. al. (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

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2.

Ortmann CA et. al. (2015) Effect of mutation order on myeloproliferative neoplasms.

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3.

Walter MJ et. al. (2011) Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.

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4.

Delhommeau F et. al. (2009) Mutation in TET2 in myeloid cancers.

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5.

Papaemmanuil E et. al. (2011) Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

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Update: Sept. 26, 2018