scholarly journals Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients

Blood ◽  
2016 ◽  
Vol 127 (23) ◽  
pp. 2924-2933 ◽  
Author(s):  
Marcin M. Gorski ◽  
Kevin Blighe ◽  
Luca A. Lotta ◽  
Emanuela Pappalardo ◽  
Isabella Garagiola ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Risk ◽  
Hemophilia A ◽  
Severe Hemophilia ◽  
Inhibitor Development ◽  
Risk Variants ◽  
Whole Exome ◽  
Key Points ◽  
Genetic Risk Variants

Key Points Exome sequencing of severe hemophilia A patients with/without inhibitors identified rare, damaging variants in immunoregulatory genes. Replication confirmed the association of rs3754689 in a conserved haplotype region surrounding the LCT locus with inhibitor development.

scholarly journals Whole-exome sequencing identified genetic risk factors for asparaginase-related complications in childhood ALL patients

Oncotarget ◽  
2017 ◽  
Vol 8 (27) ◽  
pp. 43752-43767 ◽  
Author(s):  
Rachid Abaji ◽  
Vincent Gagné ◽  
Chang Jiang Xu ◽  
Jean-François Spinella ◽  
Francesco Ceppi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Childhood All ◽  
Whole Exome

Somatic activating ARAF mutations in Langerhans cell histiocytosis

Blood ◽  
2014 ◽  
Vol 123 (20) ◽  
pp. 3152-3155 ◽  
Author(s):  
David S. Nelson ◽  
Willemijn Quispel ◽  
Gayane Badalian-Very ◽  
Astrid G. S. van Halteren ◽  
Cor van den Bos ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Novel Mutations ◽  
Whole Exome ◽  
Key Points ◽  
Inhibitor Treatment

Key Points Whole exome sequencing reveals novel mutations in ARAF that activate the kinase and are inhibitable by vemurafenib in a patient with LCH. Requiring the presence of BRAF V600E in LCH to qualify for rat fibrosarcoma inhibitor treatment may be overly exclusionary.

scholarly journals A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function

Blood ◽  
2015 ◽  
Vol 125 (11) ◽  
pp. 1822-1825 ◽  
Author(s):  
Marisa L. R. Cunha ◽  
Kamran Bakhtiari ◽  
Jorge Peter ◽  
J. Arnoud Marquart ◽  
Joost C. M. Meijers ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutation ◽  
Bleeding Disorder ◽  
Factor V ◽  
East Texas ◽  
Gain Of Function ◽  
Whole Exome ◽  
Key Points

Key Points A novel gain-of-function mutation in factor V leading to increased levels of TFPI and bleeding was identified by whole exome sequencing. Factor V Amsterdam (F5 C2588G) resembles the mutation (F5 A2350G) leading to East Texas bleeding disorder.

scholarly journals Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations

Blood ◽  
2016 ◽  
Vol 127 (8) ◽  
pp. 1007-1016 ◽  
Author(s):  
Viktor Ljungström ◽  
Diego Cortese ◽  
Emma Young ◽  
Tatjana Pandzic ◽  
Larry Mansouri ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Poor Prognosis ◽  
Clinical Impact ◽  
Lymphocytic Leukemia ◽  
Whole Exome ◽  
Key Points ◽  
Frequent Mutations

Key Points Whole-exome sequencing of CLL patients who relapsed after FCR treatment revealed frequent mutations in RPS15. RPS15 mutations are likely to be early clonal events and confer poor prognosis.

scholarly journals Recurrent ETNK1 mutations in atypical chronic myeloid leukemia

Blood ◽  
2015 ◽  
Vol 125 (3) ◽  
pp. 499-503 ◽  
Author(s):  
Carlo B. Gambacorti-Passerini ◽  
Carla Donadoni ◽  
Andrea Parmiani ◽  
Alessandra Pirola ◽  
Sara Redaelli ◽  
...  
Keyword(s):  
Catalytic Activity ◽  
Chronic Myeloid Leukemia ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Myeloid Leukemia ◽  
Somatic Mutations ◽  
Whole Exome ◽  
Key Points ◽  
Atypical Chronic Myeloid Leukemia

Key Points Whole-exome sequencing reveals the presence of recurrent somatic mutations of ETNK1 in patients with atypical chronic myeloid leukemia. ETNK1 mutations impair the catalytic activity of the enzyme, causing a decrease in the intracellular levels of phosphoethanolamine.

scholarly journals Nonneutralizing antibodies against factor VIII and risk of inhibitor development in severe hemophilia A

Blood ◽  
2017 ◽  
Vol 129 (10) ◽  
pp. 1245-1250 ◽  
Author(s):  
Antonino Cannavò ◽  
Carla Valsecchi ◽  
Isabella Garagiola ◽  
Roberta Palla ◽  
Pier Mannuccio Mannucci ◽  
...  
Keyword(s):  
Factor Viii ◽  
Hemophilia A ◽  
Severe Hemophilia ◽  
Inhibitor Development ◽  
Increased Risk ◽  
Key Points

Key Points Nonneutralizing antibodies against FVIII are detected in untreated or minimally treated patients with hemophilia A. The presence of nonneutralizing antibodies is associated with a substantially increased risk of inhibitor development.

Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations

Blood ◽  
2013 ◽  
Vol 121 (23) ◽  
pp. 4749-4752 ◽  
Author(s):  
Martin Neumann ◽  
Sandra Heesch ◽  
Cornelia Schlee ◽  
Stefan Schwartz ◽  
Nicola Gökbuget ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Adult Patients ◽  
High Rate ◽  
Specific Therapy ◽  
Whole Exome ◽  
Key Points ◽  
Recurrent Mutations

Key Points Exome sequencing of adult ETP-ALL reveals new recurrent mutations; in particular, DNMT3A is frequently mutated in adult ETP-ALL. More than 60% of all adult patients with ETP-ALL harbor a mutation that could potentially be targeted by a specific therapy.

scholarly journals Genetic risk stratification to reduce inhibitor development in the early treatment of hemophilia A: a SIPPET analysis

Blood ◽  
2017 ◽  
Vol 130 (15) ◽  
pp. 1757-1759 ◽  
Author(s):  
Frits R. Rosendaal ◽  
Roberta Palla ◽  
Isabella Garagiola ◽  
Pier M. Mannucci ◽  
Flora Peyvandi
Keyword(s):  
Risk Stratification ◽  
Randomized Trial ◽  
Early Treatment ◽  
Genetic Risk ◽  
Hemophilia A ◽  
Risk Group ◽  
Low Risk ◽  
Inhibitor Development ◽  
Key Points ◽  
Risk Patients

Key Points It has been suggested that rFVIII, which is more immunogenic than plasma-derived FVIII (pdFVIII), can be safely used in low-risk patients. Among 235 participants in a randomized trial, genetic risk stratification did not identify a low-risk group for treatment with rFVIII.

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