Linehan, W Marston Spellman, Paul T Ricketts, Christopher J Creighton, Chad J Fei, Suzanne S Davis, Caleb Wheeler, David A Murray, Bradley A Schmidt, Laura Vocke, Cathy D
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Published in
The New England journal of medicine
Type 1 and type 2 papillary renal-cell carcinomas were shown to be clinically and biologically distinct. Alterations in the MET pathway were associated with type 1, and activation of the NRF2-ARE pathway was associated with type 2; CDKN2A loss and CIMP in type 2 conveyed a poor prognosis. Furthermore, type 2 papillary renal-cell carcinoma consisted...
Brat, Daniel J Verhaak, Roel G W Aldape, Kenneth D Yung, W K Alfred Salama, Sofie R Cooper, Lee A D Rheinbay, Esther Miller, C Ryan Vitucci, Mark Morozova, Olena
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Published in
The New England journal of medicine
Diffuse low-grade and intermediate-grade gliomas (which together make up the lower-grade gliomas, World Health Organization grades II and III) have highly variable clinical behavior that is not adequately predicted on the basis of histologic class. Some are indolent; others quickly progress to glioblastoma. The uncertainty is compounded by interobs...
Chertow, Daniel S Kleine, Christian Edwards, Jeffrey K Scaini, Roberto Giuliani, Ruggero Sprecher, Armand
Published in
New England Journal of Medicine
Canaud, Guillaume Bienaimé, Frank Tabarin, Fanny Bataillon, Guillaume Seilhean, Danielle Noël, Laure-Hélène Dragon-Durey, Marie-Agnès Snanoudj, Renaud Gérard Friedlander Halbwachs-Mecarelli, Lise
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Published in
New England Journal of Medicine
Background: Although thrombosis is considered the cardinal feature of the antiphospholipid syndrome, chronic vascular lesions are common, particularly in patients with life-threatening complications. In patients who require transplantation, vascular lesions often recur. The molecular pathways involved in the vasculopathy of the antiphospholipid syn...
Jacqueline Lehmann-Che Bally, Cecile de Thé, Hugues
Published in
New England Journal of Medicine
Resistance to treatment in patients with acute promyelocytic leukemia is rare. The authors describe the development of resistance to arsenic through a mutation in the allele of PML that is not rearranged as the PML-RARA oncogenic driver.
Bruno Cassinat Verger, Emmanuelle Jean-Jacques Kiladjian
Published in
New England Journal of Medicine
In this report, two patients with essential thrombocythemia and somatic mutations in the gene encoding calreticulin but no mutations in the Janus kinase 2 gene had a response to interferon alfa therapy.
Zeuzem, Stefan Soriano, Vincent Tarik Asselah Bronowicki, Jean-Pierre Lohse, Ansgar W Müllhaupt, Beat Schuchmann, Marcus Bourlière, Marc Buti, Maria Roberts, Stuart K
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Published in
New England Journal of Medicine
The rate of a sustained virologic response 12 weeks after the completion of therapy was 52 to 69% among patients who received interferon-free treatment with faldaprevir in combination with deleobuvir plus ribavirin. (Funded by Boehringer Ingelheim; SOUND-C2 ClinicalTrials.gov number, NCT01132313.).
Boyer, Olivia Nevo, Fabien Plaisier, Emmanuelle Funalot, Benoît Gribouval, Olivier Benoit, Geneviève Cong, Evelyne Huynh Arrondel, Christelle Tête, Marie-Josèphe Montjean, Rodrick
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Published in
New England Journal of Medicine
BACKGROUND: Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that...
Hacein-Bey-Abina, Salima Hauer, Julia Lim, Annick Picard, Capucine Wang, Gary P Berry, Charles C Martinache, Chantal Frédéric Rieux-Laucat Sylvain Latour Belohradsky, Bernd H
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Published in
New England Journal of Medicine
After nearly 10 years of follow-up, gene therapy was shown to have corrected the immunodeficiency associated with SCID-X1. Gene therapy may be an option for patients who do not have an HLA-identical donor for hematopoietic stem-cell transplantation and for whom the risks are deemed acceptable. This treatment is associated with a risk of acute leuke...
Picard, Capucine McCarl, Christie-Ann Papolos, Alexander Khalil, Sara Lüthy, Kevin Hivroz, Claire LeDeist, Francoise Rieux-Laucat, Frédéric Rechavi, Gideon Rao, Anjana
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Published in
New England Journal of Medicine
A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates the store-operated entry of Ca(2+) into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic reticulum activates ORAI1-CRAC channels. We report on three siblings from one kind...