Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome
Here we report two new RUNX1 mutations in one patient with congenital thrombocytopenia that transformed into a high grade myelodysplastic syndrome with myelomonocytic features. The first mutation was a nucleotide base substitution from guanine to adenine within exon 8, resulting in a nonsense mutati...
Main Authors: | Jessica M. Schmit, Daniel J. Turner, Robert A. Hromas, John R. Wingard, Randy A. Brown, Ying Li, Marilyn M. Li, William B. Slayton, Christopher R. Cogle |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2015-01-01
|
Series: | Leukemia Research Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2213048915000035 |
Similar Items
-
Study of megakaryocytes in bone marrow aspiration smears in patients with thrombocytopenia
by: PK Choudhary, et al.
Published: (2013-10-01) -
Antiplatelet Therapy in a Patient with Coronary Artery Disease and Myelodysplastic Syndrome with Thrombocytopenia
by: Francisco José Fernández-Fernández, et al.
Published: (2017-10-01) -
A Brief Look at Myelodysplastic Syndromes: Literature Review
by: Mehmet Ali Ç›kr›kç›o¤lu, et al.
Published: (2011-06-01) -
The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature
by: Catherine Tang, et al.
Published: (2020-01-01) -
Safety and Efficacy of Eltrombopag and Romiplostim in Myelodysplastic Syndromes: A Systematic Review and Meta-Analysis
by: Fanqiao Meng, et al.
Published: (2020-11-01)