Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Myelodysplastic syndrome

Myelodysplastic syndrome is a myeloproliferative disorder that may be caused by somatic mutations of the ASXL1 gene.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
ASXL1
Myelofibrosis
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
Somatic erythrocytosis
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

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