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美国肺腺癌的西班牙裔与非西班牙裔白种人患者的 EGFR 突变。

EGFR mutations in US Hispanic versus non-Hispanic white patients with lung adenocarcinoma.

机构信息

From the Department of Pathology (Dr Zhang), Molecular Diagnostics Laboratory (Dr Fan), and Department of Pathology (Dr Jagirdar), The University of Texas Health Science Center at San Antonio, and Laboratory Service, Audie L. Murphy Memorial Veterans Affairs Medical Center (Dr Tio), San Antonio; and Department of Pathology and Immunology, Baylor College of Medicine (Dr McQuitty), and Department of Pathology and Genomic Medicine, The Methodist Hospital (Drs Olsen and Cagle, Ms Hendrickson, and Mr Newton), Houston, Texas.

出版信息

Arch Pathol Lab Med. 2014 Apr;138(4):543-5. doi: 10.5858/arpa.2013-0311-OA. Epub 2013 Aug 12.

Abstract

CONTEXT

Lung cancer is the leading cause of cancer deaths worldwide. First-generation tyrosine kinase inhibitors improve progression-free survival in lung cancers with epidermal growth factor receptor (EGFR) mutations. EGFR mutations occur predominantly in exons 19 and 21 in lung adenocarcinomas of Asians (∼30%), whites (∼15%), and African Americans (∼19%). However, minimal information exists on the prevalence or type of genetic changes that occur in lung cancers in US Hispanic patients. We investigated the EGFR mutation frequency in primary lung adenocarcinomas in US Hispanics compared with non-Hispanic whites.

OBJECTIVE

To evaluate EGFR mutations in lung adenocarcinomas from US Hispanic patients compared with those from non-Hispanic white patients.

DESIGN

DNA samples were extracted from paraffin-embedded tissue of consecutive lung adenocarcinomas from 83 patients. Samples were collected from 40 Hispanics and 43 non-Hispanic whites. Mutations in EGFR were analyzed using a custom assay. Results.-Fourteen of 83 patients (16.9%) had EGFR mutations in their tumor DNA, including 6 of 40 Hispanics (15.0%) and 8 of 43 non-Hispanic whites (18.6%). No association with age, sex, or tumor stage was identified. Smoking history could not be obtained for most of the 83 patients, although 8 of the 11 patients with EGFR mutations for whom smoking history was obtained were nonsmokers. Most of the tumors with EGFR mutations (12 of 14; 85.7%) were acinar with lepidic or papillary subtypes. EGFR mutations occurred in exon 19 (42.8%), exon 18 (28.6%), exon 20 (28.6%), and exon 21 (14.3%). Two cases had 2 mutations identified in different exons.

CONCLUSION

The frequency of EGFR mutations is similar in US Hispanics compared with non-Hispanic whites.

摘要

背景

肺癌是全球癌症死亡的主要原因。第一代酪氨酸激酶抑制剂可改善具有表皮生长因子受体(EGFR)突变的肺癌患者的无进展生存期。EGFR 突变主要发生在亚洲人(约 30%)、白种人(约 15%)和非裔美国人(约 19%)的肺腺癌中。然而,在美国西班牙裔患者的肺癌中,关于发生的遗传变化的类型或流行程度的信息很少。我们研究了美国西班牙裔患者与非西班牙裔白人患者的原发性肺腺癌中 EGFR 突变的频率。

目的

评估美国西班牙裔患者肺腺癌中的 EGFR 突变与非西班牙裔白人患者的比较。

设计

从 83 例连续肺腺癌患者的石蜡包埋组织中提取 DNA 样本。样本来自 40 名西班牙裔和 43 名非西班牙裔白人。使用定制的检测方法分析 EGFR 突变。结果:83 例患者中有 14 例(16.9%)肿瘤 DNA 中存在 EGFR 突变,包括 40 名西班牙裔中的 6 例(15.0%)和 43 名非西班牙裔白人中的 8 例(18.6%)。未发现与年龄、性别或肿瘤分期有关。由于大多数 83 例患者无法获得吸烟史,因此尽管 11 例 EGFR 突变患者中有 8 例获得了吸烟史,但这 8 例患者均为不吸烟者。14 例 EGFR 突变肿瘤中,大多数(12 例;85.7%)为腺泡型,具有贴壁或乳头状亚型。EGFR 突变发生在 19 号外显子(42.8%)、18 号外显子(28.6%)、20 号外显子(28.6%)和 21 号外显子(14.3%)。有 2 例病例在不同外显子中发现了 2 种突变。

结论

与非西班牙裔白人相比,美国西班牙裔患者中 EGFR 突变的频率相似。

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