Novel Germline Mutation: EGFR V843I in Patient With Multiple Lung Adenocarcinomas and Family Members With Lung Cancer

Ikeda, Koei; Mori, Takeshi; Sasaki, Jiichiro; Kobayashi, Toshiaki

doi:10.1016/j.athoracsur.2007.10.012

Cited by 59 publications

(35 citation statements)

References 8 publications

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“…Notably, the somatic mutations occurred cis to the germline T790M mutation, similar to the secondary resistant mutation described above. The other article reported the V843I germline mutation, which was detected in a Japanese woman and her family members with lung cancer [56]. Despite the very low frequency of these germline mutations in somatic lung cancer, somatic V843I or T790M mutations have been reported in lung cancers [56,57], suggesting some role in the pathogenesis.…”

Section: Germline Mutationsmentioning

confidence: 95%

“…The other article reported the V843I germline mutation, which was detected in a Japanese woman and her family members with lung cancer [56]. Despite the very low frequency of these germline mutations in somatic lung cancer, somatic V843I or T790M mutations have been reported in lung cancers [56,57], suggesting some role in the pathogenesis. Multiple development of lung adenocarcinoma and their precursor lesions were common in these patients, although in vitro studies indicated that cell lines with only the T790M mutation showed tyrosine phosphorylation at levels similar to those in the wild-type EGFR [36,37].…”

Section: Germline Mutationsmentioning

confidence: 95%

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EGFR mutations and the terminal respiratory unit

Yatabe

2010

Cancer Metastasis Rev

104

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Considerable knowledge has accumulated about mutations of the epidermal growth factor receptor (EGFR)-tyrosine kinase domain since these were first identified in 2004. Patients with nonsmall cell lung cancer with this mutation show dramatic clinical responses to treatment with EGFR-tyrosine kinase inhibitors, whose effectiveness has been established recently in large clinical trials. Most of the mechanisms responsible for resistance to treatment, which most responders experience eventually, have been elucidated, and methods to overcome resistance have been developed. In addition to the clinical benefit, understanding EGFR mutations sheds new light on the molecular and pathological aspects of this adenocarcinoma subset, which include frequent development in nonsmokers or females, and particular clusters within the molecular classification in lung cancer. In contrast to the involvement of EGFR mutations in the early stage of lung adenocarcinoma development, EGFR amplification is superimposed on the progression to invasive cancer. In this review, I summarize the clinicopathological characteristics of EGFR mutations in lung cancer. I also provide an overview of the current understanding of the lung adenocarcinoma subset harboring EGFR mutations with special reference to the molecular classification of lung cancer and the novel concept of the "terminal respiratory unit."

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Section: Germline Mutationsmentioning

confidence: 95%

Section: Germline Mutationsmentioning

confidence: 95%

EGFR mutations and the terminal respiratory unit

Yatabe

2010

Cancer Metastasis Rev

104

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“…The biological functions of this protein include the activation of achroacyte, participation in signal transmission, and the facilitation of cell adhesion. Overexpression of these two transmenbrane proteins have been demonstrated in many studies, and they play important roles in facilitating the proliferation, invasion, metastasis, and apoptosis of lung cancer cells (Cichy et al, 2005;Malle et al, 2005;Gao et al, 2007;Sartori et al, 2007;Eren et al, 2008;Fukui and Mitsudomi, 2008;Hirsch et al, 2008;Ikeda et al, 2008;Jin et al, 2011). In the present study, these two membrane proteins were selected as antigens of lung adenocarcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…Many studies (Cichy et al, 2005;Malle et al, 2005;Gao et al, 2007;Sartori et al, 2007;Eren et al, 2008;Fukui and Hirsch et al, 2008;Ikeda et al, 2008;Mitsudomi, 2008;Jin et al, 2011) have found overexpressions of these two transmembrane proteins in lung adenocarcinoma and these proteins play important roles in facilitating the proliferation, invasion, metastasis, and apoptosis of lung cancer cells. In the present study, two types of transmembrane proteins (EGFR and CD44) were selected as the target antigens of lung adenocarcinoma.…”

Section: Introductionmentioning

confidence: 99%

Radioimmunoimaging with Mixed Monoclonal Antibodies of Nude Mice Bearing Human Lung Adenocarcinoma Xenografts

Duan¹,

Li²,

Zhu³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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“…Two rare germ-line mutations (T790M [80] and V843I [81]) in the EGFR tyrosine kinase domain were identified in two families in which multiple members developed lung cancers. In both reports, each proband developed multiple lung adenocarcinomas with additional somatic EGFR mutations, suggesting a role of these germ-line mutations in lung carcinogenesis.…”

Section: Genetic Factorsmentioning

confidence: 99%

Lung cancers unrelated to smoking: characterized by single oncogene addiction?

et al. 2011

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Lung cancer is a major cause of cancer-related mortality worldwide. Currently, adenocarcinoma is its most common histological subtype in many countries. In contrast with small cell lung cancer or squamous cell carcinoma, lung adenocarcinoma often arises in never-smokers, especially in East Asian countries, as well as in smokers. Adenocarcinoma in never-smokers is associated with a lower incidence of genetic alterations (i.e., somatic mutations, loss of heterozygosity, and methylation) than in smokers. In addition, most adenocarcinomas in never-smokers harbor one of the proto-oncogene aberrations that occur in a mutually exclusive manner (EGFR mutation, KRAS mutation, HER2 mutations, or ALK translocation). It is of note that the proliferation and survival of lung cancer cells that harbor one of these oncogenic aberrations depend on the signaling from each aberrantly activated oncoprotein (oncogene addiction). Therefore, most adenocarcinomas in never-smokers can be effectively treated by molecularly targeted drugs that inhibit each oncoprotein. Moreover, from a pathological aspect, lung adenocarcinoma in never-smokers is characterized by terminal respiratory unit-type adenocarcinoma and a particular gene expression profile. Finally, epidemiological analyses have identified many candidate causes of lung cancer in never-smokers (genetic, environmental, and hormonal factors). The elucidation of the particular features of lung cancer unrelated to smoking and the development of new therapeutic modalities may reduce the mortality from lung cancers in the future.

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Novel Germline Mutation: EGFR V843I in Patient With Multiple Lung Adenocarcinomas and Family Members With Lung Cancer

Cited by 59 publications

References 8 publications

EGFR mutations and the terminal respiratory unit

EGFR mutations and the terminal respiratory unit

Radioimmunoimaging with Mixed Monoclonal Antibodies of Nude Mice Bearing Human Lung Adenocarcinoma Xenografts

Lung cancers unrelated to smoking: characterized by single oncogene addiction?

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