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The Genomics of Myelodysplastic Syndromes: Origins of Disease Evolution, Biological Pathways, and Prognostic Implications

Author(s): 
Hassan Awada, Bicky Thapa, Valeria Visconte
Primary Author: 
Awada H
Journal Title: 
Cells
Original Publication Date: 
Nov 2020

The molecular pathogenesis of myelodysplastic syndrome (MDS) is complex due to the high rate of genomic heterogeneity. Significant advances have been made in the last decade which elucidated the landscape of molecular alterations (cytogenetic abnormalities, gene mutations) in MDS.

Bone Marrow Disease(s): 

Venetoclax and hypomethylating agent therapy in high risk myelodysplastic syndromes: a retrospective evaluation of a real-world experience

Author(s): 
Azizi A, Ediriwickrema A, Dutta R, Patel SA, Shomali W, Medeiros B, Iberri D, Gotlib J, Mannis G, Greenberg P, Majeti R, Zhang T
Primary Author: 
Azizi A
Journal Title: 
Leukemia & Lymphoma
Original Publication Date: 
Nov 2020

Treatment with hypomethylating agents (HMAs) azacitidine or decitabine is the current standard of care for high risk

Bone Marrow Disease(s): 

Paroxysmal nocturnal haemoglobinuria (PNH): novel therapies for an ancient disease

Author(s): 
Lucio Luzzatto, Anastasios Karadimitris
Primary Author: 
Luzzatto L
Journal Title: 
British Journal of Haematology
Original Publication Date: 
Nov 2020

In the UK, early work on paroxysmal nocturnal haemoglobinuria (PNH) was conducted by John Dacie who, at the Hammersmith Hospital, first hypothesised that the PNH abnormality might arise through a somatic mutation; and who outlined with S.M.

Bone Marrow Disease(s): 

Fresh vs. frozen allogeneic peripheral blood stem cell grafts: A successful timely option

Cryopreservation of grafts has been established in autologous and cord blood transplantation, yet there is little experience regarding the effect of cryopreservation with sibling and unrelated grafts. We evaluated the effect of cryopreservation of grafts on allogeneic transplant outcomes using related, unrelated and haploidentical donors, including 958 patients, age 18‐74 years (median 55) and using PBSC for various hematologic malignancies. Fresh grafts were received by 648 (68%) patients, 310 (32%) received cryopreserved.