Next-Generation Sequencing Reveals High Concordance of Recurrent Somatic Alterations Between Primary Tumor and Metastases From Patients With Non–Small-Cell Lung Cancer

Vignot, Stéphane; Frampton, Garrett M.; Soria, Jean‐Charles; Yelensky, Roman; Commo, Frédéric; Brambilla, Christian; Palmer, Gary A.; Moro-Sibilot, Denis; Ross, Jeffrey S.; Cronin, Maureen; André, Fabrice; Stephens, Philip J.; Lazar, Vladimir; Miller, Vincent A.; Brambilla, Élisabeth

doi:10.1200/jco.2012.47.7737

Cited by 161 publications

(133 citation statements)

References 24 publications

(7 reference statements)

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“…Earlier studies using a few genes indicated a broad range of discordance (25%-49%) in driver mutations between primary and metastatic lung tumors, but most recent studies using a next-generation sequencing approach have demonstrated much greater concordance (94%). 18 All of these observations support the assumption that somatic mutations can potentially be used as a marker of clonal relationship. However, the same mutations can occur in different tumor types.…”

Section: Multiple Tumor Nodulessupporting

confidence: 59%

Lung Carcinoma Staging Update

Đačić

2016

Archives of Pathology &Amp; Laboratory Medicine

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Context.— The International Association for the Study of Lung Cancer Staging Committee has prospectively created an international lung cancer database that was used to address many lung cancer staging questions, such as tumor size, nodal status, and metastatic disease. The proposed changes for the upcoming 8th edition of the cancer staging manual were based on survival data and better prognostic stratification of patients with lung cancer. Objectives.— To review published recommendations for the revision of lung carcinoma TNM staging and to address potential challenges in pathologic staging. Data Source.— PubMed available articles by the International Association for the Study of Lung Cancer Staging Committee were reviewed. Conclusions.— The TNM system remains the best prognosticator of lung cancer outcome. The recommendations are established on new prospective data analysis and reflect the improvements in prognostic separation of patients with lung cancer based on a multidisciplinary approach.

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Section: Multiple Tumor Nodulessupporting

confidence: 59%

Lung Carcinoma Staging Update

Đačić

2016

Archives of Pathology &Amp; Laboratory Medicine

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“…The other subclones do not contribute to the metastasizing process. Vignot et al observed a similar pattern in lung tumours and their metastases 6.…”

Section: Discussionmentioning

confidence: 71%

Somatic mutation profiles in primary colorectal cancers and matching ovarian metastases: Identification of driver and passenger mutations

Crobach

Ruano

Eijk

et al. 2016

The Journal of Pathology CR

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The mutational profiles of primary colorectal cancers (CRCs) and corresponding ovarian metastases were compared. Using a custom‐made next generation sequencing panel, 115 cancer‐driving genes were analyzed in a cohort of 26 primary CRCs and 30 matching ovarian metastases (four with bilateral metastases). To obtain a complete overview of the mutational profile, low thresholds were used in bioinformatics analysis to prevent low frequency passenger mutations from being filtered out. A subset of variants was validated using Sanger and/or hydrolysis probe assays. The mutational landscape of CRC that metastasized to the ovary was not strikingly different from CRC in consecutive series. When comparing primary CRCs and their matching ovarian metastases, there was considerable overlap in the mutations of early affected genes. A subset of mutations demonstrated less overlap, presumably being passenger mutations. In particular, primary CRCs showed a substantially high number of passenger mutations. We also compared the primary CRCs and matching metastases for stratifying variants of six genes (KRAS, NRAS, BRAF, FBXW7, PTEN and PIK3CA) that select for established (EGFR directed) or future targeted therapies. In a total of 31 variants 12 were not found in either of the two locations. Tumours thus differed in the number of discordant variants between the primary tumours and matching metastases. Half of these discordant variants were definitive class 4/5 pathogenic variants. However, in terms of temporal heterogeneity, no clear relationship was observed between the number of discordant variants and the time interval between primary CRCs and the detection of ovarian metastases. This suggests that dormant metastases may be present from the early days of the primary tumours.

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“…Recent genomic studies have demonstrated the heterogeneity and genetic evolution in different regions of the same tumour, between primary and metastatic tumours, and between different metastatic sites. Despite this apparent heterogeneity, key driver mutations are well preserved in the metastatic as well as the primary tumours [13][14][15]. This suggests that genomic profiles of the primary tumour are likely to reflect the genomic spectrum of the metastasis, and the primary tumour tissue can be a surrogate for genomic profiling of all tumours [14].…”

Section: The Selection Of Biopsy Sitementioning

confidence: 92%

Tumour tissue sampling for lung cancer management in the era of personalised therapy: what is good enough for molecular testing?

Kim

Tsao

2014

Eur Respir J

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In the era of personalised cancer therapy, the demand for molecular profiling of the patient's tumour is steadily increasing. In advanced nonsmall cell lung cancer (NSCLC) patients, testing for epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) gene rearrangements has become an essential component of clinical practice to select patients who are most likely to benefit from EGFR and ALK tyrosine kinase inhibitors, respectively. Furthermore, obtaining tissue specimens from recurrent or metastatic tumours or from patients who develop resistance to initial effective therapies are essential for our understanding of the molecular basis of tumour progression and development of drug resistance. Therefore, the sampling of tumour tissue that is representative and is adequate in quantity and quality for pathological diagnosis and genomic profiling is crucial. In this review, we will discuss factors that should be considered in obtaining and processing biopsy specimens to enable routine molecular analysis in NSCLC patients. @ERSpublications Personalised therapy: adequate tumour tissue sampling for pathological diagnosis and molecular profiling is critical

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Next-Generation Sequencing Reveals High Concordance of Recurrent Somatic Alterations Between Primary Tumor and Metastases From Patients With Non–Small-Cell Lung Cancer

Cited by 161 publications

References 24 publications

Lung Carcinoma Staging Update

Lung Carcinoma Staging Update

Somatic mutation profiles in primary colorectal cancers and matching ovarian metastases: Identification of driver and passenger mutations

Tumour tissue sampling for lung cancer management in the era of personalised therapy: what is good enough for molecular testing?

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