Rare mutations in non-small-cell lung cancer

被引：4

作者：

D'Arcangelo, Manolo ^{[1
,2
]}

D'Incecco, Armida ^{[2
]}

Cappuzzo, Federico ^{[2
]}

机构：

[1] Univ Colorado, Ctr Canc, Aurora, CO 80045 USA

[2] Osped Civile Livorno, Ist Toscano Tumori, I-57100 Livorno, Italy

来源：

FUTURE ONCOLOGY | 2013年 / 9卷 / 05期

关键词：

ALK; BRAF; DDR2; EGFR; gene rearrangement; HER2; mutation; non-small-cell lung cancer; RET; ROS1; GROWTH-FACTOR-RECEPTOR; TYROSINE KINASE INHIBITORS; PHASE-II TRIAL; ANAPLASTIC LYMPHOMA KINASE; EGFR T790M MUTATION; ACQUIRED-RESISTANCE; CLINICOPATHOLOGICAL FEATURES; MISSENSE MUTATIONS; 1ST-LINE TREATMENT; SOMATIC MUTATIONS;

D O I：

10.2217/FON.13.16

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

In the last decade, new insights in molecular biology have changed the therapeutic landscape of non-small-cell lung cancer. Since 2004, when activating mutations of the EGFR were firstly identified, several genetic aberrations have been discovered, mainly in adenocarcinoma. EGFR mutations are a relatively frequent event in non-small-cell lung cancer, generally consisting of exon 19 deletion or exon 21 substitution. In adenocarcinoma, additional rare mutations are detectable in the EGFR gene, as well as in other genes, including ALK, ROS1, RET, HER2 and BRAF. Recent studies in squamous cell carcinoma identified TP53 as the most frequent mutation, followed by additional more rare mutations, including PI3KCA, PTEN, DDR2 and FGFR. The aim of the present review is to analyze the potential prognostic and predictive role of rare mutations.

引用

页码：699 / 711

页数：13

共 123 条

[1] The multifaceted roles of the receptor tyrosine kinase ROS in development and cancer [J].

Acquaviva, Jaime ;

Wong, Ricky ;

Charest, Al .

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER, 2009, 1795 (01) :37-52

[2] GDNF family neurotrophic factor signaling: Four masters, one servant? [J].

Airaksinen, MS ;

Titievsky, A ;

Saarma, M .

MOLECULAR AND CELLULAR NEUROSCIENCE, 1999, 13 (05) :313-325

[3] Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients [J].

Ali, Bassam R. ;

Xu, Huifang ;

Akawi, Nadia A. ;

John, Anne ;

Karuvantevida, Noushad S. ;

Langer, Ruth ;

Al-Gazali, Lihadh ;

Leitinger, Birgit .

HUMAN MOLECULAR GENETICS, 2010, 19 (11) :2239-2250

[4]

[Anonymous], J THOR ONCOL S19

[5] Prevalence, Clinicopathologic Associations, and Molecular Spectrum of ERBB2 (HER2) Tyrosine Kinase Mutations in Lung Adenocarcinomas [J].

Arcila, Maria E. ;

Chaft, Jamie E. ;

Nafa, Khedoudja ;

Roy-Chowdhuri, Sinchita ;

Lau, Christopher ;

Zaidinski, Michael ;

Paik, Paul K. ;

Zakowski, Maureen F. ;

Kris, Mark G. ;

Ladanyi, Marc .

CLINICAL CANCER RESEARCH, 2012, 18 (18) :4910-4918

[6] Nucleophosmin-anaplastic lymphoma kinase of large-cell anaplastic lymphoma is a constitutively active tyrosine kinase that utilizes phospholipase C-γ to mediate its mitogenicity [J].

Bai, RY ;

Dieter, P ;

Peschel, C ;

Morris, SW ;

Duyster, J .

MOLECULAR AND CELLULAR BIOLOGY, 1998, 18 (12) :6951-6961

[7] Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor - Mutant lung adenocarcinomas with acquired resistance to kinase inhibitors [J].

Balak, Marissa N. ;

Gong, Yixuan ;

Riely, Gregory J. ;

Somwar, Romel ;

Li, Allan R. ;

Zakowski, Maureen F. ;

Chiang, Anne ;

Yang, Guangli ;

Ouerfelli, Ouathek ;

Kris, Mark G. ;

Ladanyi, Marc ;

Miller, Vincent A. ;

Pao, William .

CLINICAL CANCER RESEARCH, 2006, 12 (21) :6494-6501

[8] ROS1 Rearrangements Define a Unique Molecular Class of Lung Cancers [J].

Bergethon, Kristin ;

Shaw, Alice T. ;

Ou, Sai-Hong Ignatius ;

Katayama, Ryohei ;

Lovly, Christine M. ;

McDonald, Nerina T. ;

Massion, Pierre P. ;

Siwak-Tapp, Christina ;

Gonzalez, Adriana ;

Fang, Rong ;

Mark, Eugene J. ;

Batten, Julie M. ;

Chen, Haiquan ;

Wilner, Keith D. ;

Kwak, Eunice L. ;

Clark, Jeffrey W. ;

Carbone, David P. ;

Ji, Hongbin ;

Engelman, Jeffrey A. ;

Mino-Kenudson, Mari ;

Pao, William ;

Iafrate, A. John .

JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (08) :863-870

[9]

Brose MS, 2002, CANCER RES, V62, P6997

[10] Mutational analysis of the HER2 gene in lung tumors from Caucasian patients:: Mutations are mainly present in adenocarcinomas with bronchioloalveolar features [J].

Buttitta, Fiamma ;

Barassi, Fabio ;

Fresu, Giuseppina ;

Felicioni, Lara ;

Chella, Antonio ;

Paolizzi, Diego ;

Lattanzio, Giuseppe ;

Salvatore, Simona ;

Camplese, Pier P. ;

Rosini, Sandra ;

Iarussi, Teodorico ;

Mucilli, Felice ;

Mezzetti, Andrea ;

Sacco, Rocco ;

Marchetti, Antonio .

INTERNATIONAL JOURNAL OF CANCER, 2006, 119 (11) :2586-2591

← 1 2 3 4 5 6 7 8 9 10 →