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1.
Zhonghua Bing Li Xue Za Zhi ; 48(8): 596-603, 2019 Aug 08.
Artículo en Chino | MEDLINE | ID: mdl-31422589

RESUMEN

Objective: To explore molecular characteristics of endometrial endometrioid cancer according to The Cancer Genome Atlas (TCGA) based molecular classification of endometrial carcinomas and to confirm simple and clinically applicable surrogate methodologies in pathological practice. Methods: Two hundred and twenty-eight cases of endometrial endometroid adenocarcinomas (EnACs) collected from August 2001 to August 2017 from Peking University Health Science Center, Peking University Third Hospital were molecularly categorized by using Sanger sequencing for the exonuclease domain mutations (EDM) of POLE, and by immunohistochemistry for p53 and mismatch repair (MMR) proteins. The cohort was classified into polymerase-E exonuclease domain mutation (POLE EDM), mismatch repair deficiency (MMR-D), p53 abnormal (p53-abn) and p53 wild type (p53-wt) groups. The correlation between molecular subgroups and the clinical-pathological features including prognosis were analyzed. Results: The cohort was distributed as follows: 11(4.8%) POLE EDM, 47(20.6%) MMR-D, 9(4.0%) p53-abn and 161(70.6%) p53-wt. p53-wt subgroup patients demonstrated significantly higher lymph node metastasis (P=0.011) and more advanced stage (P=0.036) than those of somatic hypermutation group cases (POLE EDM and MMR-D). In the FIGO grade 2-3 EnACs cohort, TCGA molecular subtyping was significantly correlated with progression-free survival and overall survival (P=0.043). POLE EDM subgroup had the best survival, while p53-abn subgroup had the worst. Conclusions: Identification of POLE EDM and MMR-D subgroups provides independent and highly valuable prognostic information beyond established histological classification. Based on immunohistochemistry of MMR, p53 and POLE mutational analysis, this pragmatic molecular classification scheme can be served as a reliable surrogate for TCGA molecular classification, which has potential to be used routinely in Chinese pathological practice.


Asunto(s)
Carcinoma Endometrioide , Neoplasias Endometriales , Femenino , Genoma Humano , Humanos , Pronóstico
2.
Genet Mol Res ; 12(4): 6052-8, 2013 Dec 02.
Artículo en Inglés | MEDLINE | ID: mdl-24338399

RESUMEN

To explore the relationship between Myf5 gene polymorphisms and production performance traits in Songliao white geese, we used the chicken Myf5 sequence to design primers and amplified part of the exon 1 sequence of the Songliao white goose Myf5 gene. Results of single-strand conformation polymorphism polymerase chain reaction analysis revealed polymorphisms of the amplified fragment, including three genotypes (AA, AB, and BB). Three varieties were dominated by allele A and were mainly expressed in AA genotypes. We also identified that the Myf5 gene has one single nucleotide change (A→G) on exon 1 at locus 1344, and another (G→C) at locus 1410. Analysis of variance showed significant differences between genotypes before slaughter in live weight, carcass weight, eviscerated weight, leg muscle weight, weight of the wings, and slaughter rate. There were no significant differences with respect to other growth and carcass traits evaluated.


Asunto(s)
Proteínas Aviares/genética , Gansos/genética , Factor 5 Regulador Miogénico/genética , Polimorfismo de Nucleótido Simple , Animales , Secuencia de Bases , Gansos/crecimiento & desarrollo , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Músculo Esquelético/crecimiento & desarrollo , Análisis de Secuencia de ADN
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