O64: GENOMIC PROFILING USING CIRCULATING NUCLEIC ACIDS IN STAGE IV MELANOMA PATIENTS RECEIVING IMMUNOTHERAPY REVEALS A NOVEL GENE AMPLIFICATION LANDSCAPE AND ALLOWS FOR DETECTION OF ACTIONABLE GENE MUTATIONS

نویسندگان

چکیده

Abstract Introduction Serial monitoring for disease progression and therapeutic efficacy at the molecular level in metastatic melanoma is hampered by a lack of reliable blood borne biomarkers. Molecular profiling tumours almost impractical due to risks procedure related morbidity sampling inefficiency representing tumour heterogeneity. Cell free DNA allows changes over course immunotherapy. We investigated utility somatic mutation gene amplification analyses patients receiving Method was extracted from plasma using QIAamp Circulating Nucleic Acid Kit (Qiagen). Pathway focused status performed ARMs PCR QBiomarker Somatic Mutation Arrays Gene analysis Real Time Quantitative (Roche) RT2 Profiler Result A total twenty with stage IV immunotherapy were enrolled this study. The BRAF p.V600E detected cfDNA 80% positive patients. also profiled 84 genes cancer inflammation immunity pathway. There significant difference copy numbers several (CTLA-4, CXCL12, CXCL5, IDO1, TGFB, IFNG, IL4, PTGS2, AICDA, HLA-A, CCL4, ACKR3, TP53, MYC) between progressive response (n=20, p < 0.05). Conclusion postulate that cell pathway may be useful evaluating response. Take-home message Genomic circulating nucleic acids melanoma.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...

متن کامل

detection of six novel mutations in wasp gene in fifteen iranian wiskott-aldrich patients.

wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia,  eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia  (xlt) that  presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...

متن کامل

Analysis of HER2 gene amplification using Differential PCR in breast cancer patients of Isfahan Province

Background: Amplification of HER2 is seen in 20-30% of breast cancer cases. Measurement of HER2 gene amplification appears to be of vital importance in planning the treatment schedule for patients with breast carcinoma. The aim of our study was to evaluate HER2 amplification status in malignant and benign breast tumors by differential PCR (dPCR). Materials and Methods: The genomic DNA was ex...

متن کامل

Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia

Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...

متن کامل

Detection of R882 Mutations in DNMT3A Gene in Acute Myeloid Leukemia: A Method Comparison Study

Background: Somatic mutations in the hotspot region of the DNA-methyltransferase 3A (DNMT3A) gene were recurrently identified in acute myeloid leukemia (AML). It is believed that DNMT3A mutations confer an adverse prognosis for AML patients. These lines of evidence support the need for a rapid and cost-efficient method for the detection of these mutations. The present study aimed to establish h...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: British Journal of Surgery

سال: 2021

ISSN: ['1365-2168', '0007-1323']

DOI: https://doi.org/10.1093/bjs/znab117.064