scholarly journals Rare and novel GNAS gene mutations in Chinese patients with thyroid cancer

2021 ◽  
Author(s):  
Zhuo Wang ◽  
Changwen Jing ◽  
Haixia Cao ◽  
Jianzhong Wu ◽  
Rong Ma
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Gnas Gene

Novel Recurrent Altered Genes in Chinese Patients With Anaplastic Thyroid Cancer

2021 ◽  
Author(s):  
Lingyun Zhang ◽  
Zhixiang Ren ◽  
Zhengzheng Su ◽  
Yang Liu ◽  
Tian Yang ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Copy Number ◽  
Treatment Strategies ◽  
Gene Mutations ◽  
Anaplastic Thyroid Cancer ◽  
Chinese Patients ◽  
Driver Gene ◽  
Phosphatidylinositol 3 Kinase ◽  
Entire Cohort ◽  
Whole Exome

Abstract Background Anaplastic thyroid cancer (ATC) is a rare but lethal malignancy, and few systematic investigations on genomic profiles of ATC have been performed in Chinese patients. Methods Fifty-four ATC patients in West China Hospital between 2010 to 2020 were retrospectively analyzed, while 29 patients with available samples were sequenced by whole-exome sequencing (WES). The associations between genomic alterations and clinical characteristics were statistically evaluated. Results The median overall survival was 3.0 months in the entire cohort, which was impacted by multiple clinical features, including age, tumor size, and different treatment strategies. In the WES cohort, totally 797 nonsilent mutations were detected; the most frequently altered genes were TP53 (48%), BRAF (24%), PIK3CA (24%), and TERT promoter (21%). Although these mutations have been well-reported in previous studies, ethnic specificity was exhibited in terms of mutation frequency. Moreover, several novel significantly mutated genes were identified including RBM15 (17%), NOTCH2NL (14%), CTNNA3 (10%), and KATNAL2 (10%). WES-based copy number alteration analysis also revealed a high frequent gain of NOTCH2NL (41%), which induced its increased expression. Gene mutations and copy number alterations were enriched in phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin (mTOR), NOTCH, and WNT pathways. Conclusions This study reveals shared and ethnicity-specific genomic profiles of ATC in Chinese patients and suggests NOTCH2NL may act as a novel candidate driver gene for ATC tumorigenesis.

scholarly journals Morphological and Genetic Heterogeneity of Synchronous Multifocal Lung Adenocarcinoma in a Chinese Cohort

2020 ◽  
Author(s):  
Donglin Zhu ◽  
Dan Cao ◽  
Minghong Shen ◽  
Jinghuan Lv
Keyword(s):  
Lung Cancer ◽  
Primary Lung Cancer ◽  
Gene Mutations ◽  
Tumor Location ◽  
Chinese Patients ◽  
Molecular Testing ◽  
Additional Tool ◽  
Molecular Features ◽  
Pathologic Features ◽  
Genotypic Analysis

Abstract Background: Synchronous multifocal lung cancer (SMLC) is seen with increasing frequency in clinical practice globally. Because of innate variation in clinical management and outcome, it is vital to distinguish properly between synchronous multifocal primary lung cancer (SMPLC) and intrapulmonary metastasis (IM). The pathologic features and principal classification criteria of multifocal lung cancer remain unclear. Methods: We have collected a unique cohort of Chinese patients with SMLC, and fully explored the morphologic, immunohistochemical, and molecular features of the disease. Twenty-one SMLC patients with a total of 50 tumors were included in our study. The pathological features presented by these cases were analyzed, including tumor location, tumor size, pathological types, predominant pattern of adenocarcinoma, and immunohistochemical staining. We undertook molecular testing of nine driver oncogenes associated with lung cancer, including EGER, KRAS, BRAF, NRAS, ALK, ROS1, RET, HER2, and PIK3CA. Results: According to Martini-Melamed classification and refined standard, 8 and 17 cases were considered as SMPLC respectively. Gene mutations were identified in 18 tumors (36%). There were 12 patients had different gene mutations. Conclusions: We demonstrate that conventional morphological assessment is not sufficient to establish clearly the clonal relationship of SMPLC. Instead the evaluation of histological subtypes, including non-mucinous adherent components, is required. Multiplex genotypic analysis may also prove a useful additional tool.

Interleukin 27 -964A > G genetic polymorphism and serum IL-27p28 levels in Chinese patients with papillary thyroid cancer

Tumor Biology ◽  
2015 ◽  
Vol 36 (10) ◽  
pp. 8207-8211 ◽  
Author(s):  
Shulong Zhang ◽  
Xueren Gao ◽  
Yong Wang ◽  
Jianguang Jia ◽  
Qiang Zhang ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Genetic Polymorphism ◽  
Papillary Thyroid Cancer ◽  
Chinese Patients ◽  
Papillary Thyroid ◽  
Interleukin 27

scholarly journals Simultaneous detection of expression and gene mutations of HER2/neu in Chinese patients with gastric cancer

2010 ◽  
Vol 1 (3) ◽  
pp. 559-563 ◽  
Author(s):  
XIULI ZhANG ◽  
JIANHUI QU ◽  
GANG SUN ◽  
JING YANG ◽  
YUNSHENG YANG
Keyword(s):  
Gastric Cancer ◽  
Simultaneous Detection ◽  
Gene Mutations ◽  
Chinese Patients

scholarly journals Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations

2020 ◽  
Vol 11 ◽  
Author(s):  
Xiaoxuan Liu ◽  
Xiaohui Duan ◽  
Yingshuang Zhang ◽  
Aping Sun ◽  
Dongsheng Fan
Keyword(s):  
Gene Mutations ◽  
Cross Sectional Study ◽  
Large Cohort ◽  
Chinese Patients ◽  
Sectional Study ◽  
Cross Sectional

p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy

2019 ◽  
Author(s):  
Mara Giacché ◽  
Alessandra Panarotto ◽  
Maria Chiara Tacchetti ◽  
Rossella Tosini ◽  
Federica Campana ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Founder Effect ◽  
Medullary Thyroid Cancer ◽  
Gene Mutations ◽  
Northern Italy ◽  
Medullary Thyroid ◽  
Ret Gene

scholarly journals NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

2010 ◽  
Vol 109 (3) ◽  
pp. 192-200 ◽  
Author(s):  
Pa-Fan Hsiao ◽  
Shuan-Pei Lin ◽  
Shu-Shien Chiang ◽  
Yu-Hung Wu ◽  
Hsiu-Chin Chen ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Chinese Patients ◽  
Incontinentia Pigmenti
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