Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs).

Somatic mutations in the promoter region of telomerase reverse transcriptase (TERT) gene, mainly at positions c. − 124 and c. − 146 bp, are frequent in several human cancers; yet its presence in gastrointestinal stromal tumor (GIST) has not been reported to date. Herein, we searched for the presence and clinicopathological association of TERT promoter mutations in genomic DNA from 130 bona fide GISTs. We found TERT promoter mutations in 3.8% (5/130) of GISTs. The c. − 124C4T mutation was the most common event, present in 2.3% (3/130), and the c. − 146C4T mutation in 1.5% (2/130) of GISTs. No significant association was observed between TERT promoter mutation and patient’s clinicopathological features. The present study establishes the low frequency (4%) of TERT promoter mutations in GISTs. Further studies are required to confirm our findings and to elucidate the hypothetical biological and clinical impact of TERT promoter mutation in GIST pathogenesis.This project was partially supported by Barretos Cancer Hospital internal research funds (PAIP) and CNPq Universal Grant (476192/2013-7) to RMR. NCC is a recipient of an FAPESP Doctoral Fellowship (2013/25787-3). Further funding from the project ‘Microenvironment, metabolism and cancer’ that was partially supported by Programa Operacional Regional do Norte (ON.2—O Novo Norte) under the Quadro de Referência Estratégico Nacional (QREN) and the Fundo Europeu de Desenvolvimento Regional (FEDER). IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education that is partially supported by the FCT

Association of Dry Eye Tests With Extraocular Signs Among 3514 Participants in the Sjögren's Syndrome International Registry

PURPOSE: To identify a screening strategy for dry eye patients with a high likelihood of having Sjogren's syndrome (SS) through the evaluation of the association of ocular surface tests with the extraocular signs used for the diagnosis of SS. DESIGN: Multi-center cross-sectional study. METHODS: The Sjogren's International Clinical Collaborative Alliance (SICCA) registry enrolled 3,514 participants with SS or possible SS from 9 international academic sites. Ocular surface evaluation included Schirmer I testing, tear break-up time (TBUT), and staining of the cornea (0 to 6 points) and conjunctiva (0 to 6 points). Multivariate logistic regression analysis was performed to identify predictive factors for: 1) histopathologic changes on labial salivary gland (LSG) biopsies (positive = focus score of ≥1 focus/4mm(2)) and 2) positive anti-SSA/B serology. RESULTS: The adjusted odds of having a positive LSG biopsy was significantly higher among those with an abnormal Schirmer I test (adjusted OR = 1.26, 95% CI 1.05 to 1.51, P=0.014), positive conjunctival staining (for each additional unit of staining 1.46; 95% CI 1.39 to 1.53, P < 0.001) or corneal staining (for each additional unit of staining 1.14; 95% CI 1.08 to 1.21, P < 0.001). The odds of having a positive serology was significantly higher among those with an abnormal Schirmer I test (adjusted OR=1.3; 95% CI 1.09 to 1.54 P=0.004), and conjunctival staining (adjusted OR=1.51; 95% CI 1.43 to 1.58, P < 0.001). CONCLUSIONS: In addition to corneal staining which was associated with a higher likelihood of having a positive LSG biopsy, conjunctival staining and abnormal Schirmer I testing are of critical importance to include when screening dry eye patients for possible SS as they were associated with a higher likelihood of having a positive LSG biopsy and serology

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

La liste complète des auteurs est disponible sur la notice WOS : http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=INRA&SrcApp=INRA&DestLinkType=FullRecord&DestApp=WOS&KeyUT=ISI:000253008800003International audienc

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

La liste complète des auteurs est disponible sur la notice WOS : http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=INRA&SrcApp=INRA&DestLinkType=FullRecord&DestApp=WOS&KeyUT=ISI:000253008800003International audienc