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https://www.readbyqxmd.com/read/29113157/lack-of-microsatellite-instability-in-gastrointestinal-stromal-tumors
#1
Nathália C Campanella, Cristovam Scapulatempo-Neto, Lucas Faria Abrahão-Machado, Antônio Talvane Torres De Oliveira, Gustavo N Berardinelli, Denise Peixoto Guimarães, Rui M Reis
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointestinal stromal tumor (GIST) development is associated with activating mutations of KIT proto-oncogene receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor α (PDGFRA), which are oncogenes that predict the response to imatinib mesylate...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29094232/phase-i-trial-of-bortezomib-daily-dose-safety-pharmacokinetic-profile-biological-effects-and-early-clinical-evaluation-in-patients-with-advanced-solid-tumors
#2
Rastislav Bahleda, Marie-Cécile Le Deley, Apexa Bernard, Shalini Chaturvedi, Michael Hanley, Audrey Poterie, Anas Gazzah, Andreea Varga, Mehdi Touat, Eric Deutsch, Christophe Massard, Helgi Van De Velde, Antoine Hollebecque, Magali Sallansonnet-Froment, Damien Ricard, Hervé Taillia, Eric Angevin, Vincent Ribrag, Jean-Charles Soria
Purpose This phase I study investigated bortezomib in solid tumors used as a daily subcutaneous regimen. Previous regimens showed only modest activity in solid tumors which was potentially related to sub-optimal tumor penetration. We aimed at exploring if daily low dose administration of bortezomib may allow a greater and tolerable pharmacokinetic exposure which might be required for antitumor activity in solid tumors. Patients and methods This 3 + 3 design, dose escalation, monocentric study aimed at defining the maximum tolerated dose of daily low dose schedule of bortezomib...
November 2, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28970330/early-response-evaluation-by-18-f-fdg-pet-influences-management-in-gastrointestinal-stromal-tumor-gist-patients-treated-with-imatinib-with-neo-adjuvant-intent
#3
Sheima Farag, Lioe-Fee de Geus-Oei, Winette T Van der Graaf, Frits van Coevorden, Dirk J Grunhagen, Anna K L Reyners, Pieter A Boonstra, Ingrid M E Desar, Hans J Gelderblom, Neeltje Steeghs
Objective: FDG-PET has previously proven to be an effective way for early response evaluation of imatinib treatment in GISTs. However, it is unclear whether this affects treatment decisions in GIST patients treated with neo-adjuvant intent. Methods: We retrospectively scored change in management based on the early response evaluation by FDG-PET scans in patients entered in the Dutch GIST registry and treated with neo-adjuvant imatinib . Results: Seventy FDG-PET scans in 63 patients treated with neo-adjuvant imatinib were conducted for early response evaluation...
September 28, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28924001/diagnosis-of-endocrine-disease-sdhx-mutations-beyond-pheochromocytomas-and-paragangliomas
#4
Massimo Mannelli, Letizia Canu, Tonino Ercolino, Elena Rapizzi, Serena Martinelli, Gabriele Parenti, Giuseppina De Filpo, Gabriella Nesi
Mutations in one of the five genes encoding the succinate dehydrogenase (SDHx) or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas (PHEO) and paragangliomas (PGL). Recently, other solid growths, such as gastrointestinal stromal tumors (GISTs), renal cell carcinomas (RCCs) and pituitary adenomas (PAs) have been associated with these syndromes. In the absence of prospective studies assessing their frequency, at present, their occurrence seems too infrequent to suggest systematic screening for SDHx mutation carriers...
September 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28870911/sunitinib-inhibits-breast-cancer-cell-proliferation-by-inducing-apoptosis-cell-cycle-arrest-and-dna-repair-while-inhibiting-nf-%C3%AE%C2%BAb-signaling-pathways
#5
Hesham M Korashy, Zaid H Maayah, Fawaz E Al Anazi, Abdulaziz M Alsaad, Ibrahim O Alanazi, Osamah M Belali, Fahad O Al-Atawi, Aws Alshamsan
The tyrosine kinase inhibitor sunitinib was recently approved for use against gastrointestinal stromal tumors and advanced renal cell carcinoma. Yet, the protective effect of sunitinib against breast cancer has been poorly investigated. In this study, we investigated the antiproliferative and apoptogenic effects of sunitinib and the possible mechanism involved against the MCF7 human breast cancer cell line. Treatment of MCF7 cells with sunitinib caused concentration-dependent cell growth suppression due to apoptosis...
September 2017: Anticancer Research
https://www.readbyqxmd.com/read/28868481/the-role-of-endoscopic-ultrasound-in-the-diagnostic-assessment-of-subepithelial-lesions-of-the-upper-gastrointestinal-tract
#6
Francisca Dias de Castro, Joana Magalhães, Sara Monteiro, Sílvia Leite, José Cotter
INTRODUCTION: The identification of subepithelial lesions is a relatively frequent finding at endoscopy however their natural history is not well known. Our aim was to analyze the role of endoscopic ultrasound (EUS) in the diagnostic approach of subepithelial lesions of the upper gastrointestinal tract. METHODS: Retrospective study which included 324 patients undergoing upper radial EUS for evaluation of subepithelial lesions from 2008 to 2014. The EUS features, presumptive diagnosis and management decision were analyzed...
November 2016: GE Port J Gastroenterol
https://www.readbyqxmd.com/read/28864106/gastric-mesenchymal-tumors-as-incidental-findings-during-roux-en-y-gastric-bypass
#7
Everton Cazzo, Helena Paes de Almeida de Saito, José Carlos Pareja, Elinton Adami Chaim, Francisco Callejas-Neto, João de Souza Coelho-Neto
BACKGROUND: Occurrences of mesenchymal tumors have been more recognized in recent years, and the incidental diagnosis of these lesions during bariatric surgery has been previously reported. OBJECTIVE: To describe the cases of incidentally diagnosed mesenchymal tumors during consecutive bariatric surgeries. SETTING: Private health-providing service, Brazil. METHODS: A retrospective population-based study, which enrolled individuals who consecutively underwent Roux-en-Y gastric bypass at a single center from January 2006 through July 2016...
July 29, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28710566/remarkable-effects-of-imatinib-in-a-family-with-young-onset-gastrointestinal-stromal-tumors-and-cutaneous-hyperpigmentation-associated-with-a-germline-kit-trp557arg-mutation-case-report-and-literature-overview
#8
S Farag, L E van der Kolk, H H van Boven, A C J van Akkooi, G L Beets, J W Wilmink, N Steeghs
Gastrointestinal stromal tumors (GISTs) occur mostly sporadically. GISTs associated with a familial syndrome are very rare and are mostly wild type for KIT and platelet-derived growth factor alpha (PDGFRA). To date 35 kindreds and 8 individuals have been described with GISTs associated with germline KIT mutations. This is the third family described with a germline p.Trp557Arg mutation in exon 11 of the KIT gene. The effect of imatinib in patients harboring a germline KIT mutation has been rarely described. Moreover, in some studies imatinib treatment was withheld considering the lack of evidence for efficacy of this treatment in GIST patients harboring a germline KIT mutation...
July 14, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28694578/mesenteric-leiomyoma-in-infancy
#9
Henrique Pavan, Marcos Frata Rihl, Sergio Luiz Oliveira de Freitas
A 10-year-old female presented with a palpable mass occupying the entire abdomen. Computerized tomography scan showed a large expansive lesion measuring 22 cm × 20 cm × 13 cm. The mass was resected and the diagnosis of leiomyoma was made from immunehistochemical findings. Mesenteric leiomyoma is an uncommon tumor among gastrointestinal stromal tumors.
July 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28681655/effectiveness-and-safety-of-endoscopic-resection-for-gastric-gists-a-systematic-review
#10
Qiang Zhang, Liang-Qing Gao, Ze-Long Han, Xiao-Feng Li, Li-Hui Wang, Si-De Liu
AIMS: To evaluate the effectiveness and safety of endoscopic resection for gastric gastrointestinal stromal tumors (GISTs). MATERIAL AND METHODS: The effectiveness and safety of endoscopic resection were mainly assessed by complete resection rate, postoperative adverse event rate, and recurrence rate. Moreover, a comparison of endoscopic with laparoscopic resection for gastric GISTs was made through weighted mean difference by STATA 12.0 with regard to operation time, blood loss, and length of stay after including patients who underwent endoscopic or laparoscopic resection for gastric GISTs in the comparative studies...
July 6, 2017: Minimally Invasive Therapy & Allied Technologies: MITAT
https://www.readbyqxmd.com/read/28454120/phosphodiesterase-3a-a-new-player-in-development-of-interstitial-cells-of-cajal-and-a-prospective-target-in-gastrointestinal-stromal-tumors-gist
#11
Pierre Vandenberghe, Perrine Hagué, Steven C Hockman, Vincent C Manganiello, Pieter Demetter, Christophe Erneux, Jean-Marie Vanderwinden
We previously identified phosphodiesterase 3A (PDE3A) as a marker for interstitial cells of Cajal (ICC) in adult mouse gut. However, PDE3A expression and function during gut development and in ICC-derived gastrointestinal stromal tumors (GIST) remained unknown. Here we found that PDE3A was expressed throughout ICC development and that ICC density was halved in PDE3A-deficient mice. In the human imatinib-sensitive GIST882 cell line, the PDE3 inhibitor cilostazol halved cell viability (IC50 0.35 μM) and this effect synergized with imatinib (Chou-Talalay's CI50 0...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28259173/subepithelial-rectal-gastrointestinal-stromal-tumor-the-use-of-endoscopic-ultrasound-guided-fine-needle-aspiration-to-establish-a-definitive-cytological-diagnosis-a-case-report
#12
Vitor Ottoboni Brunaldi, Martin Coronel, Danielle Azevedo Chacon, Eduardo Turiani Hourneaux De Moura, Sérgio E Matuguma, Eduardo Guimarães Hourneaux De Moura, Diogo Turiani Hourneaux De Moura
BACKGROUND: Gastrointestinal stromal tumors are the most common mesenchymal neoplasms affecting the gastrointestinal tract. The stomach is the most common location to be affected, and the rectum one of the rarest, but the whole gastrointestinal tract remains susceptible. Gastrointestinal stromal tumors account for only 0.1% of rectal tumors. Currently, endoscopic ultrasound plays an essential role in the diagnostic process of gastrointestinal stromal tumors, especially when the affected sites have a worse outcome and higher morbidity rates...
March 5, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28199882/mesenteric-inflammatory-pseudotumor-a-difficult-diagnosis-case-report
#13
Vítor Neves Lopes, César Alvarez, M Jesus Dantas, Carla Freitas, João Pinto-de-Sousa
INTRODUCTION: Inflammatory pseudotumor (IP) is an uncommon benign neoplasm. It was first described in the lung but it has been recognized in several somatic and visceral locations. Mesenteric presentation is rare and its clinical presentation is variable but patients can be completely asymptomatic. Complete surgical resection is the only curable treatment. Rational follow-up protocols have not been established yet. PRESENTATION OF CASE: A 57 years-old man, with no relevant comorbidities and completely asymptomatic, apart from a lump on the right hypochondrium, was submitted to surgical resection of a large mesenteric mass...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28198176/what-is-changing-in-the-surgical-treatment-of-gastrointestinal-stromal-tumors-after-multidisciplinary-approach-a-comprehensive-literature-s-review
#14
Belinda DE Simone, Luca Ansaloni, Massimo Sartelli, Federico Coccolini, Salomone DI Saverio, Maria A Pantaleo, Maristella Saponara, Margherita Nannini, Harishine K Abongwa, Josephine A Napoli, Fausto Catena
INTRODUCTION: Gastrointestinal stromal tumors (GIST) represent the most common mesenchymal neoplasms of the gastrointestinal tract. Surgery is the only curative treatment for GIST. The aim of our review was to highlight the changes in the surgical treatment of GIST after the introduction of TKI therapy in a multimodality management (neo-adiuvant or adiuvant setting). EVIDENCE ACQUISITION: We carried out a review of the recent literature about surgical treatment of GIST according to its anatomical location and size according to PRISMA STATEMENT to systematic review...
June 2017: Minerva Chirurgica
https://www.readbyqxmd.com/read/28153448/giant-primary-extra-gastrointestinal-stromal-tumor-of-the-liver
#15
Ana María Carrillo Colmenero, Mario Serradilla Martín, Manuel de Dios Redondo Olmedilla, Francisco Manuel Ramos Pleguezuelos, Pedro López Leiva
No abstract text is available yet for this article.
January 30, 2017: Cirugía Española
https://www.readbyqxmd.com/read/28130400/genome-wide-analyses-identifies-men1-and-max-mutations-and-a-neuroendocrine-like-molecular-heterogeneity-in-quadruple-wt-gist
#16
Maria A Pantaleo, Milena Urbini, Valentina Indio, Gloria Ravegnini, Margherita Nannini, Matilde De Luca, Giuseppe Tarantino, Sabrina Angelini, Alessandro Gronchi, Bruno Vincenzi, Giovanni Grignani, Chiara Colombo, Elena Fumagalli, Lidia Gatto, Maristella Saponara, Manuela Ianni, Paola Paterini, Donatella Santini, Maria Giulia Pirini, Claudio Ceccarelli, Annalisa Altimari, Elisa Gruppioni, Salvatore L Renne, Paola Collini, Silvia Stacchiotti, Giovanni Brandi, Paolo G Casali, Antonio D Pinna, Annalisa Astolfi, Guido Biasco
Quadruple wild-type (WT) gastrointestinal stromal tumors (GIST) is a genomic subgroup lacking KIT/PDGFRA/RAS pathways mutations, with an intact succinate dehydrogenase (SDH) complex. The aim of this work is to perform a wide comprehensive genomic study on quadruple WT GIST to improve the characterization of these patients. We selected 14 clinical cases of quadruple WT GIST, of which nine cases showed sufficient DNA quality for Whole Exome Sequencing (WES). NF1 alterations were identified directly by WES. Gene expression from Whole Transcriptome Sequencing (WTS) and miRNA profiling were performed using fresh-frozen, quadruple WT GIST tissue specimens and compared to SDH and KIT/PDGFRAmutant GIST...
January 27, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28024574/mirna-218-loaded-carboxymethyl-chitosan-tocopherol-nanoparticle-to-suppress-the-proliferation-of-gastrointestinal-stromal-tumor-growth
#17
Lin Tu, Ming Wang, Wen-Yi Zhao, Zi-Zhen Zhang, De-Feng Tang, Ye-Qian Zhang, Hui Cao, Zhi-Gang Zhang
Gastrointestinal stromal tumors (GIST) are one of the most common forms of mesenchymal cancers of the gastrointestinal tract. Although chemotherapeutic drugs inhibited the proliferation of GIST, however, sizable proportion of people developed resistance and therefore difficult to treat. In the present study, O-carboxymethyl chitosan (OCMC)-tocopherol polymer conjugate was synthesized and formulated into stable polymeric nanoparticles. The main aim of present study was to increase the therapeutic efficacy of miR-218 in GIST...
March 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/27981619/familial-progressive-hyperpigmentation-cutaneous-mastocytosis-and-gastrointestinal-stromal-tumor-as-clinical-manifestations-of-mutations-in-the-c-kit-receptor-gene
#18
Tatiana Piqueres-Zubiaurre, Zuriñe Martínez de Lagrán, Ricardo González-Pérez, Amaia Urtaran-Ibarzabal, Guiomar Perez de Nanclares
BACKGROUND: Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by the appearance of hyperpigmented patches on the skin from early infancy that increase in size and number with age. METHODS: We report the clinical and molecular studies of an 11-year-old boy who had areas of hyperpigmentation since birth that had spread across his body as irregular hyperpigmented macules and papules, and include relevant history in family members...
January 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27974047/fgfr1-and-ntrk3-actionable-alterations-in-wild-type-gastrointestinal-stromal-tumors
#19
Eileen Shi, Juliann Chmielecki, Chih-Min Tang, Kai Wang, Michael C Heinrich, Guhyun Kang, Christopher L Corless, David Hong, Katherine E Fero, James D Murphy, Paul T Fanta, Siraj M Ali, Martina De Siena, Adam M Burgoyne, Sujana Movva, Lisa Madlensky, Gregory M Heestand, Jonathan C Trent, Razelle Kurzrock, Deborah Morosini, Jeffrey S Ross, Olivier Harismendy, Jason K Sicklick
BACKGROUND: About 10-15% of adult, and most pediatric, gastrointestinal stromal tumors (GIST) lack mutations in KIT, PDGFRA, SDHx, or RAS pathway components (KRAS, BRAF, NF1). The identification of additional mutated genes in this rare subset of tumors can have important clinical benefit to identify altered biological pathways and select targeted therapies. METHODS: We performed comprehensive genomic profiling (CGP) for coding regions in more than 300 cancer-related genes of 186 GISTs to assess for their somatic alterations...
December 14, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27896638/seom-clinical-guideline-for-gastrointestinal-sarcomas-gist-2016
#20
A Poveda, V Martinez, C Serrano, I Sevilla, M J Lecumberri, R D de Beveridge, A Estival, D Vicente, J Rubió, J Martin-Broto
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract, and this disease has served as a paradigmatic model for successful rational development of targeted therapies. The introduction of tyrosine kinase inhibitors with activity against KIT/PDGFRA in both localized and advanced stages has remarkably improved the survival in a disease formerly deemed resistant to all systemic therapies. The Spanish Society of Medical Oncology (SEOM) guidelines provide a multidisciplinary and updated consensus for the diagnosis and treatment of GIST patients...
December 2016: Clinical & Translational Oncology
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