scholarly journals Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia

Blood ◽  
2015 ◽  
Vol 126 (22) ◽  
pp. 2484-2490 ◽  
Author(s):  
Jane E. Churpek ◽  
Khateriaa Pyrtel ◽  
Krishna-Latha Kanchi ◽  
Jin Shao ◽  
Daniel Koboldt ◽  
...  

Key Points Known pathogenic germ line variants in 12 genes can explain nearly 30% of families with inherited predisposition to MDS/AML. Asymptomatic carriers of germ line RUNX1 mutations develop detectable clonal hematopoiesis with a cumulative risk of >80% by age 50 years.

2019 ◽  
Vol 3 (10) ◽  
pp. 1581-1585 ◽  
Author(s):  
Christine M. McMahon ◽  
Jonathan Canaani ◽  
Bryan Rea ◽  
Rachel L. Sargent ◽  
Julianne N. Qualtieri ◽  
...  

Key Points Gilteritinib induces 2 distinct marrow responses in FLT3-mutated AML: responses with and without differentiation. Ongoing clonal hematopoiesis is ubiquitous during gilteritinib therapy and may promote genetic evolution and drug resistance.


2017 ◽  
Vol 1 (8) ◽  
pp. 500-503 ◽  
Author(s):  
Jodi Ram ◽  
Gabrielle Flamm ◽  
Marlene Balys ◽  
Umayal Sivagnanalingam ◽  
Paul G. Rothberg ◽  
...  

Key Points The persistence of a CEBPA mutation at the time of complete remission warrants germ line analysis. Not all patients harboring germ line CEBPA mutations have a family history of AML.


Nature Cancer ◽  
2021 ◽  
Vol 2 (5) ◽  
pp. 527-544 ◽  
Author(s):  
Marina Scheller ◽  
Anne Kathrin Ludwig ◽  
Stefanie Göllner ◽  
Christian Rohde ◽  
Stephen Krämer ◽  
...  

Blood ◽  
2013 ◽  
Vol 122 (7) ◽  
pp. 1316-1324 ◽  
Author(s):  
Margaret L. Green ◽  
Wendy M. Leisenring ◽  
Hu Xie ◽  
Roland B. Walter ◽  
Marco Mielcarek ◽  
...  

Key Points CMV reactivation after HCT is associated with a reduced risk of early relapse in patients with AML but not other disease groups. The benefit, however, is offset by an increased risk of nonrelapse mortality.


Blood ◽  
2015 ◽  
Vol 125 (15) ◽  
pp. 2386-2396 ◽  
Author(s):  
Francis Mussai ◽  
Sharon Egan ◽  
Joseph Higginbotham-Jones ◽  
Tracey Perry ◽  
Andrew Beggs ◽  
...  

Key Points Arginase depletion with BCT-100 pegylated recombinant human arginase is cytotoxic to AML blasts.


Blood ◽  
2017 ◽  
Vol 129 (6) ◽  
pp. 771-782 ◽  
Author(s):  
Jason A. Powell ◽  
Alexander C. Lewis ◽  
Wenying Zhu ◽  
John Toubia ◽  
Melissa R. Pitman ◽  
...  

Key Points Inhibition of SPHK1 in human AML cells induces MCL1 degradation and caspase-dependent cell death. SPHK1 inhibitors reduce leukemic burden and prolong survival in orthotopic patient-derived xenografts of AML.


Blood ◽  
2016 ◽  
Vol 128 (14) ◽  
pp. 1854-1861 ◽  
Author(s):  
Eduard J. Libourel ◽  
Clara P. W. Klerk ◽  
Yvette van Norden ◽  
Moniek P. M. de Maat ◽  
Marieke J. Kruip ◽  
...  

Key Points A high D-dimer level strongly predicts symptomatic venous and arterial thrombosis in newly diagnosed AML. Thrombosis occurs in up to 10% of patients with newly diagnosed AML.


Blood ◽  
2016 ◽  
Vol 127 (11) ◽  
pp. 1449-1458 ◽  
Author(s):  
Weiwei Shen ◽  
Mrinal M. Patnaik ◽  
Autumn Ruiz ◽  
Stephen J. Russell ◽  
Kah-Whye Peng

Key Points IV therapy with oncolytic VSV-IFNβ-NIS virus extends survival of immunocompetent mice with AML. The therapeutic outcome of VSV-IFNβ-NIS–treated mice with AML is augmented by anti-PD-L1 immunotherapy.


2021 ◽  
Vol 5 (7) ◽  
pp. 2012-2016
Author(s):  
Reine El Omar ◽  
Emmanuelle Julien ◽  
Katia Biasch ◽  
Blandine Guffroy ◽  
Bruno Lioure ◽  
...  

Key Points Expression of caudal-related homeobox gene 2 (CDX2) and angiotensin-converting enzyme (ACE) correlates during hematopoietic emergence. This emergence occurs in human and mouse embryos and in human acute myeloid leukemia; CDX2 homeoprotein also binds to the ACE promoter.


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