Abstract：
BACKGROUND:Mutations in the activation segment of the v-raf murine sarcoma viral oncogene homolog B (BRAF) gene are present in approximately 50% of melanomas. The selective BRAF inhibitor vemurafenib has demonstrated significant clinical benefits in patients with melanomas harboring the most common mutations (V600E, V600K and V600R). However, the clinical activity of BRAF inhibitors in patients with rare mutations of codon 600 and the surrounding codons has not been documented. CASE PRESENTATION:We used the BRAF inhibitor vemurafenib to treat a patient presenting a rare p.V600_K601delinsD-mutated melanoma. An objective response was evidenced by two months of progression-free survival. By cloning and sequencing BRAF exon 15, we confirmed that a dual mutation was present on a single allele and thus resulted in a BRAFV(600DK601del) mutant protein. We also performed an in silico crystal structure analysis of the mutated protein, in order to characterize the nature of the putative interaction between vemurafenib and the mutant protein. CONCLUSION:This clinical experience suggests that (i) patients with BRAFV(600DK601del)-mutation-positive melanoma can be treated successfully with the oral BRAF inhibitor vemurafenib and (ii) molecular screening in this context should encompass rare and complex mutations.
journal_name
BMC Cancerjournal_title
BMC cancerauthors
Trudel S,Odolczyk N,Dremaux J,Toffin J,Regnier A,Sevestre H,Zielenkiewicz P,Arnault JP,Gubler Bdoi
10.1186/1471-2407-14-727subject
Has Abstractpub_date
2014-09-29 00:00:00pages
727issn
1471-2407pii
1471-2407-14-727journal_volume
14pub_type
杂志文章相关文献
BMC CANCER文献大全abstract：BACKGROUND:Antiangiogenic therapies are considered promising for the treatment of glioblastoma (GB). The non-collagenous C-terminal globular NC1 domain of type VIII collagen a1 chain, Vastatin, is an endogenous antiangiogenic polypeptide. Sustained enhanced expression of Vastatin was shown to inhibit tumour growth and ...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-017-3125-8
更新日期：2017-02-13 00:00:00
abstract：:Recently, Shu-Yu Tai et al. reported that personal hair dye use increased risk of prostate cancer with a dose-response effect. Although hair dyes were identified as carcinogenic in animals and increased risk of some cancers among hairdressers, the existing epidemiological data did not support that personal hair dye us...
journal_title：BMC cancer
pub_type： 评论,杂志文章
doi：10.1186/s12885-017-3656-z
更新日期：2017-11-07 00:00:00
abstract：BACKGROUND:Oesophagectomy remains the only curative intervention for oesophageal cancer, with defined nutritional and health-related quality of life (HR-QOL) consequences. It follows therefore that there is a significant risk of decline in physical wellbeing with oesophagectomy however this has been inadequately quanti...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-019-5888-6
更新日期：2019-07-12 00:00:00
abstract：BACKGROUND:A disintegrin and metalloprotease 8 (ADAM8) has been reported to be associated with various malignancies. However, no studies have examined ADAM8 association in colorectal cancer (CRC). The aim of this study was to investigate the expression and function of ADAM8 in CRC. METHODS:Expression level of ADAM8 in...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-14-568
更新日期：2014-08-07 00:00:00
abstract：BACKGROUND:It is not known what combination of bevacizumab and chemotherapy agents is the best therapeutic regimen. Comparative study results among the efficacies of bevacizumab plus chemotherapy remain controversial in patients with HER2-negative metastatic breast cancer. METHODS:We searched Pubmed, Embase, and Cochr...
journal_title：BMC cancer
pub_type： 杂志文章,meta分析
doi：10.1186/s12885-020-6674-1
更新日期：2020-03-04 00:00:00
abstract：BACKGROUND:Acute myeloid leukemia (AML) is predominantly a disease of older patients with a poor long-term survival. Approval of decitabine (DAC) in the European Union (EU) in 2012 for the treatment of patients with AML ≥65 years marks the potential for hypomethylating agents in elderly AML. Nevertheless the situation ...
journal_title：BMC cancer
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1186/s12885-015-1432-5
更新日期：2015-05-26 00:00:00
abstract：BACKGROUND:One of the basic prerequisites for generating evidence-based data is the availability of classification systems. Attempts to date to classify breast cancer operations have focussed on specific problems, e.g. the avoidance of secondary corrective surgery for surgical defects, rather than taking a generic appr...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-9-108
更新日期：2009-04-08 00:00:00
abstract：BACKGROUND:The influence of the tumor microenvironment and tumor-stromal interactions on the heterogeneity of response within breast cancer subtypes have just begun to be explored. This study focuses on patients with estrogen receptor-positive/human epidermal growth factor receptor 2-positive (ER+/HER2+) breast cancer ...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-016-2302-5
更新日期：2016-04-18 00:00:00
abstract：BACKGROUND:The purpose of the PROLUCA study is to investigate the efficacy of preoperative and early postoperative rehabilitation in a non-hospital setting in patients with operable lung cancer with special focus on exercise. METHODS:Using a 2 x 2 factorial design with continuous effect endpoint (Maximal Oxygen Uptake...
journal_title：BMC cancer
pub_type： 杂志文章,随机对照试验
doi：10.1186/1471-2407-14-404
更新日期：2014-06-04 00:00:00
abstract：BACKGROUND:Sorafenib is an orally active multikinase tyrosine kinase inhibitor (TKI) that targets B-type Raf kinase (BRAF), vascular endothelial growth factor receptors (VEGFR) 1 and 2, and rearranged during transfection (RET), inducing anti-angiogenic and pro-apoptotic actions in a wide range of solid tumors. A side e...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-016-2060-4
更新日期：2016-01-19 00:00:00
abstract：BACKGROUND:Cancer patient pathways (CPPs) were implemented in 2015 to reduce waiting time, regional variation in waiting time, and to increase the predictability of cancer care for the patients. The aims of this study were to see if the national target of 70% of all cancer patients being included in a CPP was met, and ...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-020-06979-y
更新日期：2020-05-30 00:00:00
abstract：BACKGROUND:About 5-10% of breast cancer is due to inherited disease predisposition. Many previously identified susceptibility factors are involved in the maintenance of genomic integrity. AATF plays an important role in the regulation of gene transcription and cell proliferation. It induces apoptosis by associating wit...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-9-457
更新日期：2009-12-21 00:00:00
abstract：BACKGROUND:The expression of a neural crest stem cell marker, polysialic acid (polySia), and its main carrier, neural cell adhesion molecule (NCAM), have been detected in some malignant tumors with high metastatic activity and unfavorable prognosis, but the diagnostic and prognostic value of polySia-NCAM in neuroblasto...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-9-57
更新日期：2009-02-17 00:00:00
abstract：BACKGROUND:A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. METHODS:In order to evaluate the NuMa gene for breast cancer sus...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-8-71
更新日期：2008-03-10 00:00:00
abstract：BACKGROUND:Shared decision-making (SDM) is recommended for men facing prostate cancer (PC) screening decisions. We synthesize the evidence on the comparative effectiveness of SDM with usual care. METHODS:We searched academic and grey literature databases, and other sources for primary randomised controlled trials (RCT...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-018-4794-7
更新日期：2018-10-22 00:00:00
abstract：BACKGROUND:Gastrointestinal stromal tumors (GIST), one of the most common mesenchymal tumors of the gastrointestinal tract, prior to routine immunohistochemical staining and the introduction of tyrosine kinase inhibitors, were often mistaken for neoplasms of smooth muscle origin such as leiomyomas, leiomyosarcomas or l...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-12-90
更新日期：2012-03-19 00:00:00
abstract：BACKGROUND:Many advanced human tumors, including hepatocellular carcinomas (HCC) are auxotrophic for arginine due to down-regulation of argininosuccinate synthetase (ASS1), the rate-limiting enzyme in arginine synthesis. The arginine-lowering agent PEGylated arginine deiminase (ADI-PEG 20) has shown efficacy as a monot...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-14-621
更新日期：2014-08-28 00:00:00
abstract：BACKGROUND:Aldo-keto reductase (AKR) 1C family member 3 (AKR1C3), one of four identified human AKR1C enzymes, catalyzes steroid, prostaglandin, and xenobiotic metabolism. In the prostate, AKR1C3 is up-regulated in localized and advanced prostate adenocarcinoma, and is associated with prostate cancer (PCa) aggressivenes...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-10-672
更新日期：2010-12-06 00:00:00
abstract：BACKGROUND:The EGFR and downstream signaling pathways play an important role in tumorigenesis in oral squamous cell carcinoma (OSCC). Gene copy number alteration is one mechanism for overexpressing the EGFR protein and was also demonstrated to be related to lymph node metastasis, tumor invasiveness and perineural invas...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-017-3586-9
更新日期：2017-08-30 00:00:00
abstract：BACKGROUND:Many studies have reported the prognostic significance of the bone scan index (BSI) for metastatic castration-resistant prostate cancer (mCRPC); however, these reports are controversial. This study investigated the BSI in mCRPC and its relationship with prognosis. METHODS:The PubMed, Cochrane, and Embase da...
journal_title：BMC cancer
pub_type： 杂志文章,meta分析
doi：10.1186/s12885-020-06739-y
更新日期：2020-03-20 00:00:00
abstract：BACKGROUND:Tamoxifen has dramatically reduced the recurrence and mortality rate of estrogen receptor positive breast cancer. However, the efficacy of tamoxifen varies between individuals and 40% of patients will have a recurrence despite adjuvant tamoxifen treatment. Factors that predict tamoxifen efficacy would be hel...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-13-612
更新日期：2013-12-28 00:00:00
abstract：BACKGROUND:Tetratricopeptide repeat domain 9A (TTC9A) protein is a recently identified protein which contains three tetratricopeptide repeats (TPRs) on its C-terminus. In our previous studies, we have shown that TTC9A was a hormonally-regulated gene in breast cancer cells. In this study, we found that TTC9A was over-ex...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-8-231
更新日期：2008-08-12 00:00:00
abstract：BACKGROUND:We conducted a case-control study to evaluate the role of UDP-glucuronosyltransferase 1A7 (UGT1A7) polymorphisms in the onset of hepatocellular carcinoma (HCC). METHODS:The study included 165 patients with HCC, 134 with cirrhosis and 142 controls without liver disease, matched for age and hospital. All were...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-7-214
更新日期：2007-11-19 00:00:00
abstract：:Following definitive chemoradiation for anal squamous cell carcinoma (ASCC), patients face a variety of chronic issues including: bowel dysfunction, accelerated bone loss, sexual dysfunction, and psychosocial distress. The increasing incidence of this disease, high cure rates, and significant long-term sequelae warran...
journal_title：BMC cancer
pub_type： 杂志文章,评审
doi：10.1186/s12885-019-6053-y
更新日期：2019-09-11 00:00:00
abstract：BACKGROUND:Neoadjuvant Chemotherapy (NC) including trastuzumab induces a high rate of pathological Complete Responses (pCR) in patients with locally advanced HER2-overexpressing Breast Cancer (BC), but is penalized by a severe cardiotoxicity when combined with anthracyclines. A phase II study was designed to assess whe...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-14-954
更新日期：2014-12-15 00:00:00
abstract：BACKGROUND:Combinations of trastuzumab with either docetaxel or vinorelbine are considered valuable treatment options for HER2-positive metastatic breast cancer patients. We performed a retrospective comparison of the clinical outcomes associated with either one of these combinations. METHODS:From a multi-institutiona...
journal_title：BMC cancer
pub_type： 杂志文章,多中心研究
doi：10.1186/1471-2407-10-28
更新日期：2010-02-01 00:00:00
abstract：BACKGROUND:Doxorubicin-based chemotherapy is currently the most frequently used treatment for triple negative breast cancer (TNBC), yet the response rate is not high due to the lack of a biomarker allowing identification of responsive patients before the chemotherapy is initiated. We have demonstrated that doxorubicin ...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/s12885-018-4724-8
更新日期：2018-08-13 00:00:00
abstract：BACKGROUND:The purpose of this study was to identify the risk factors associated with fatal pulmonary hemorrhage (PH) in patients with locally advanced non-small cell lung cancer (NSCLC), treated with chemoradiotherapy. METHODS:The medical records of 583 patients with locally advanced NSCLC, who were treated with chem...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-12-27
更新日期：2012-01-20 00:00:00
abstract：BACKGROUND:Extramammary Paget's disease (EMPD) remains a rare condition with only a limited number of cases reported in the literature. EMPD is mainly composed of intraepidermal Paget cells, and possesses variable clinical behaviors and histological appearances, leading to difficulty in the diagnosis of this disease. ...
journal_title：BMC cancer
pub_type： 杂志文章
doi：10.1186/1471-2407-10-405
更新日期：2010-08-04 00:00:00
abstract：BACKGROUND:Currently, clinical studies on the prognosis of prostate cancer (PC) taking aspirin were developing, but the precise mechanism of aspirin on tumor cells was still unclear. In addition, the conclusion that aspirin can improve the prognosis of PC patients continues to be controversial. Therefore, we collected ...
journal_title：BMC cancer
pub_type： 杂志文章,meta分析
doi：10.1186/s12885-019-6415-5
更新日期：2019-12-05 00:00:00
