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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

OMIM.ORG article

Omim 614286 [^]
7.

Orphanet article

Orphanet ID 52688 [^]
8.

Wikipedia article

Wikipedia EN (Myelodysplastic_syndrome) [^]
Update: April 29, 2019