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...
Published in New England Journal of Medicine
An inhibitor of a class of epigenetic-modifier proteins prevents and cures type 1 diabetes in a mouse model, probably through a dual effect on the macrophage and beta cell.
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...
Published in New England Journal of Medicine
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...
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.
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.
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.).
Published in New England Journal of Medicine
Continuous ruxolitinib therapy, as compared with the best available therapy, was associated with marked and durable reductions in splenomegaly and disease-related symptoms, improvements in role functioning and quality of life, and modest toxic effects. An influence on overall survival has not yet been shown. (Funded by Novartis Pharmaceuticals; Cli...
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...
