scholarly journals Adenocarcinoma of the lung with concomitant ALK fusion gene and EGFR gene mutation: A case report and literature review

2015 ◽  
Vol 4 (2) ◽  
pp. 203-205 ◽  
Author(s):  
TAO FAN ◽  
YING-JIE SONG ◽  
XIU-LI LIU
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Fusion Gene ◽  
Egfr Gene ◽  
Adenocarcinoma Of The Lung ◽  
Egfr Gene Mutation

Global profiling of EGFR gene mutation, amplification, regulation and tissue protein expression in unknown primary carcinomas: to target or not to target?

2007 ◽  
Vol 24 (2) ◽  
pp. 79-86 ◽  
Author(s):  
Leukothea Dova ◽  
George Pentheroudakis ◽  
Ioannis Georgiou ◽  
Vassiliki Malamou-Mitsi ◽  
George Vartholomatos ◽  
...  
Keyword(s):  
Protein Expression ◽  
Gene Mutation ◽  
Unknown Primary ◽  
Tissue Protein ◽  
Egfr Gene ◽  
Egfr Gene Mutation

scholarly journals Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando
Keyword(s):  
Physical Activity ◽  
Case Report ◽  
Literature Review ◽  
Point Mutation ◽  
Gene Mutation ◽  
Musculoskeletal Disorder ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

Detection of EGFR Gene Mutation in Lung Cancer by Mutant-Enriched Polymerase Chain Reaction Assay

2006 ◽  
Vol 12 (1) ◽  
pp. 43-48 ◽  
Author(s):  
Hiroaki Asano ◽  
Shinichi Toyooka ◽  
Masaki Tokumo ◽  
Kouichi Ichimura ◽  
Keisuke Aoe ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Polymerase Chain Reaction ◽  
Gene Mutation ◽  
Polymerase Chain Reaction Assay ◽  
Chain Reaction ◽  
Egfr Gene ◽  
Polymerase Chain ◽  
Egfr Gene Mutation

scholarly journals Detected EGFR mutation in cerebrospinal fluid of lung adenocarcinoma patients with meningeal metastasis

Open Medicine ◽  
2016 ◽  
Vol 11 (1) ◽  
pp. 93-96 ◽  
Author(s):  
Jiang Rong ◽  
Ma Chunhua ◽  
Lv Yuan ◽  
Mu Ning ◽  
Li Jinduo ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Lung Adenocarcinoma ◽  
Gene Mutation ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Egfr Mutations ◽  
Egfr Gene ◽  
Sequencing Method ◽  
Direct Sequencing Method ◽  
Egfr Gene Mutation

AbstractObjectiveTo discuss the application of ARMS method to detect EGFR gene mutation in cerebrospinal fluid of lung adenocarcinoma patients with meningeal metastasis.Methods5 cases of lung adenocarcinoma were identified with meningeal metastasis that were cleared EGFR gene mutation by gene sequencing method. From each patient 5ml cerebrospinal fluid was obtained by lumbar puncture. ARMS method was used to detect EGFR mutations in cerebrospinal fluid.Results5 samples of cerebrospinal fluid were successfully detected by ARMS method, 3 samples found that EGFR gene mutations, the mutations in line with direct sequencing method.ConclusionARMS method can be used to detect EGFR gene mutations of cerebrospinal fluid samples in lung adenocarcinoma with meningeal metastasis. But cerebrospinal fluid specimens from histological specimens, blood samples need to be confirmed by further comparative study whether there is advantage.

Sign in / Sign up

Export Citation Format

Share Document