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Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

Primary Author: 
Malcovati L
Journal Title: 
Blood
Original Publication Date: 
Oct 2011

In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS). Here, we define the clinical significance of these mutations in MDS and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). The coding exons of SF3B1 were screened using massively parallel pyrosequencing in patients with MDS, MDS/MPN, or acute myeloid leukemia (AML) evolving from MDS. Somatic mutations of SF3B1 were found in 150/533 (28.1%) patients with MDS, 16/83 (19.3%) with MDS/MPN, and 2/38 (5.3%) with AML.

Bone Marrow Diseases: 

Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia.

Author(s): 
Calado RT, Cooper JN, Padilla-Nash HM, Sloand EM, Wu CO, Scheinberg P, Ried T, Young NS
Primary Author: 
Calado RT
Journal Title: 
Leukemia
Original Publication Date: 
Oct 2011

In cell and animal models,

Bone Marrow Diseases: 

Evaluation of overall survival according to myelodysplastic syndrome-specific comorbidity index in a large series of myelodysplastic syndromes.

Author(s): 
Breccia M, Federico V, Loglisci G, Salaroli A, Serrao A, Alimena G.
Primary Author: 
Breccia M
Journal Title: 
Haematologica
Original Publication Date: 
Oct 2011

No abstract available

Bone Marrow Diseases: 

Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia.

Author(s): 
Katagiri T, Sato-Otsubo A, Kashiwase K, Morishima S, Sato Y, Mori Y, Kato M, Sanada M, Morishima Y, Hosokawa K, Sasaki Y, Ohtake S, Ogawa S, Nakao S.
Primary Author: 
Katagiri T
Journal Title: 
Blood
Original Publication Date: 
Sep 2011
Bone Marrow Diseases: 

Phase I study of oral azacitidine in myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia

Author(s): 
Garcia-Manero G, Gore SD, Cogle C, Ward R, Shi T, Macbeth KJ, Laille E, Giordano H, Sakoian S, Jabbour E, Kantarjian H, Skikne B.
Primary Author: 
Garcia-Manero G
Journal Title: 
J Clin Oncol.
Original Publication Date: 
Jun 2011

PURPOSE:

Bone Marrow Diseases: