Novel germline mutation:: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer

被引：54

作者：

Ikeda, Koei ^{[1
,2
,3
]}

Nomori, Hiroaki ^{[1
,2
,3
]}

Mori, Takeshi ^{[1
,2
,3
]}

Sasaki, Jiichiro ^{[1
,2
,3
]}

Kobayashi, Toshiaki ^{[1
,2
,3
]}

机构：

[1] Kumamoto Univ, Grad Sch Med Sci, Dept Thorac Surg, Kumamoto 8608556, Japan

[2] Kumamoto Univ Hosp, Dept Resp Med, Kumamoto, Japan

[3] Natl Canc Ctr, Dept Assist Diagnost Technol, Tokyo, Japan

来源：

ANNALS OF THORACIC SURGERY | 2008年 / 85卷 / 04期

关键词：

D O I：

10.1016/j.athoracsur.2007.10.012

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A novel germline transmission of the epidermal growth factor receptor (EGFR) mutation V843I in a family with multiple members with lung cancer is reported. The proband was a 70-year-old woman with multiple adenocarcinomas who exhibited secondary EGFR mutations, either L858R or L861Q, in the specimens of resected tumors, in addition to a germline EGFR V843I mutation. These observations suggest that the germline EGFR V843I mutation might have altered EGFR signaling in the multicentric development of adenocarcinoma, bronchoalveolar carcinoma, and atypical adenomatous hyperplasia and also might have had a role in the development of lung cancer in multiple members of her family.

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收藏

页码：1430 / 1432

页数：3

相关论文

共 8 条

[1] Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR [J].

Bell, DW ;

Gore, I ;

Okimoto, RA ;

Godin-Heymann, N ;

Sordella, R ;

Mulloy, R ;

Sharma, SV ;

Brannigan, BW ;

Mohapatra, G ;

Settleman, J ;

Haber, DA .

NATURE GENETICS, 2005, 37 (12) :1315-1316

[2] Epidermal growth factor receptor mutation in lung cancer are linked to bronchioloalveolar differentiation [J].

Blons, Helene ;

Cote, Jean-Francois ;

Le Corre, Delphine ;

Riquet, Marc ;

Fabre-Guilevin, Elisabeth ;

Laurent-Puig, Pierre ;

Danel, Claire .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2006, 30 (10) :1309-1315

[3] The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies [J].

Ji, Hongbin ;

Li, Danan ;

Chen, Liang ;

Shimamura, Takeshi ;

Kobayashi, Susumu ;

McNamara, Kate ;

Mahmood, Umar ;

Mitchell, Albert ;

Sun, Yangping ;

Al-Hashem, Ruclayyah ;

Chirieac, Lucian R. ;

Padera, Robert ;

Bronson, Roderick T. ;

Kim, William ;

Janne, Pasi A. ;

Shapiro, Geoffrey I. ;

Tenen, Daniel ;

Johnson, Bruce E. ;

Weissleder, Ralph ;

Sharpless, Norman E. ;

Wong, Kwok-Kin .

CANCER CELL, 2006, 9 (06) :485-495

[4] OVERVIEW - GENES THAT PREDISPOSE TO CANCER [J].

KNUDSON, AG .

MUTATION RESEARCH, 1991, 247 (02) :185-190

[5] Somatic mutations of epidermal growth factor receptor in bile duct and gallbladder carcinoma [J].

Leone, F ;

Cavalloni, G ;

Pignochino, Y ;

Sarotto, I ;

Ferraris, R ;

Piacibello, W ;

Venesio, T ;

Capussotti, L ;

Risio, M ;

Aglietta, M .

CLINICAL CANCER RESEARCH, 2006, 12 (06) :1680-1685

[6] Epidermal growth factor receptor mutations in needle biopsy/aspiration samples predict response to gefitinib therapy and survival of patients with advanced nonsmall cell lung cancer [J].

Shih, JY ;

Gow, CH ;

Yu, CJ ;

Yang, CH ;

Chang, YL ;

Tsai, MF ;

Hsu, YC ;

Chen, KY ;

Su, WP ;

Yang, PC .

INTERNATIONAL JOURNAL OF CANCER, 2006, 118 (04) :963-969

[7] EGFR tyrosine kinase domain mutations are detected in histologically normal respiratory epithelium in lung cancer patients [J].

Tang, XN ;

Shigematsu, H ;

Bekele, BN ;

Roth, JA ;

Minna, JD ;

Hong, WK ;

Gazdar, AF ;

Wistuba, II .

CANCER RESEARCH, 2005, 65 (17) :7568-7572

[8] MULTICENTRIC ADENOCARCINOMA OF THE LUNG - CT-PATHOLOGICAL CORRELATION [J].

ZWIREWICH, CV ;

MILLER, RR ;

MULLER, NL .

RADIOLOGY, 1990, 176 (01) :185-190