دورية أكاديمية
Integrating NGS-derived mutational profiling in the diagnosis of multiple lung adenocarcinomas.
| العنوان: | Integrating NGS-derived mutational profiling in the diagnosis of multiple lung adenocarcinomas. |
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| المؤلفون: | Ezer N; Department of Medicine, Division of Respirology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; Centre for Outcomes Research and Evaluation - Research Institute of the McGill University Health Center, Montreal, 1001 Decarie Blvd., QC, Canada., Wang H; Division of Pathology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada; Research Molecular Pathology Center, Lady Davis Institute, 3755 Côte Ste-Catherine Road, Montreal, QC, Canada., Corredor AG; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada; Division of Molecular Genetics, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada., Fiset PO; Division of Pathology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada., Baig A; Division of Pathology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada., van Kempen LC; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada; Division of Molecular Genetics, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; University Medical Center of Groningen, PO box 30.001, 9700 RB, Groningen, Netherlands., Chong G; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada; Division of Molecular Genetics, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada., Issac MSM; Research Institute of the McGill University Health Centre, 1001 Decarie Blvd, Montreal, QC, Canada; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, El Saray St., El Manial, Postal Code 11956, Cairo, Egypt., Fraser R; Division of Pathology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada., Spatz A; Division of Pathology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada; Research Molecular Pathology Center, Lady Davis Institute, 3755 Côte Ste-Catherine Road, Montreal, QC, Canada., Riviere JB; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada; Division of Molecular Genetics, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada., Broët P; UMR 1018, INSERM, CESP, Paris-Saclay University, Faculty of Medicine, Paul-Brousse Hospital AP-AP, Villejuif, France; Research Center, CHU Ste-Justine, University of Montreal, 3175 Côte-Sainte-Catherine Road, H3T 1C5, Montreal, QC, Canada., Spicer J; Division of Thoracic and Upper GI Surgery, McGill University Health Center, 1650 Cedar Avenue Montreal, H3G 1A4, Montreal, QC, Canada., Camilleri-Broët S; Division of Pathology, McGill University Health Center, 1001 Decarie Blvd., Montreal, QC, Canada; OPTILAB-MUHC & Department of Laboratory Medicine, 1001 Decarie Blvd., Montreal, QC, Canada. Electronic address: sophie.camilleri-broet@mcgill.ca. |
| المصدر: | Cancer treatment and research communications [Cancer Treat Res Commun] 2021; Vol. 29, pp. 100484. Date of Electronic Publication: 2021 Oct 29. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101694651 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-2942 (Electronic) Linking ISSN: 24682942 NLM ISO Abbreviation: Cancer Treat Res Commun Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : Elsevier, [2016]- |
| مواضيع طبية MeSH: | Adenocarcinoma of Lung/*diagnosis , High-Throughput Nucleotide Sequencing/*methods , Lung Neoplasms/*diagnosis, Adenocarcinoma of Lung/pathology ; Aged ; Aged, 80 and over ; Female ; Humans ; Lung Neoplasms/pathology ; Male ; Middle Aged ; Mutation |
| مستخلص: | Microabstract: Integration of Next Generation Sequencing (NGS) information for use in distinguishing between Multiple Primary Lung Cancer and intrapulmonary metastasis was evaluated. We used a probabilistic model, comprehensive histologic assessment and NGS to classify patients. Integrating NGS data confirmed initial diagnosis (n = 41), revised the diagnosis (n = 12), while resulted in non-informative data (n = 8). Accuracy of diagnosis can be significantly improved with integration of NGS data. Background: Distinguishing between multiple primary lung cancers (MPLC) and intrapulmonary metastases (IPM) is challenging. The goal of this study was to evaluate how Next Generation Sequencing (NGS) information may be integrated in the diagnostic strategy. Patients and Methods: Patients with multiple lung adenocarcinomas were classified using both the comprehensive histologic assessment and NGS. We computed the joint probability of each pair having independent mutations by chance (thus being classified as MPLC). These probabilities were computed using the marginal mutation rates of each mutation, and the known negative dependencies between driver genes and different gene loci. With these NGS-driven data, cases were re-classified as MPLC or IPM. Results: We analyzed 61 patients with a total of 131 tumors. The most frequent mutation was KRAS (57.3%) which occured at a rate higher than expected (p < 0.001) in lung cancer. No mutation was detected in 25/131 tumors (19.1%). Discordant molecular findings between tumor sites were found in 46 patients (75.4%); 11 patients (18.0%) had concordant molecular findings, and 4 patients (6.6%) had concordant molecular findings at 2 of the 3 sites. After integration of the NGS data, the initial diagnosis was confirmed for 41 patients (67.2%), the diagnosis was revised for 12 patients (19.7%) or was considered as non-informative for 8 patients (13.1%). Conclusion: Integrating the information of NGS data may significantly improve accuracy of diagnosis and staging. (Copyright © 2021. Published by Elsevier Ltd.) |
| فهرسة مساهمة: | Keywords: Comprehensive histologic assessment; Intrapulmonary metastases; Multiple primary lung cancers; NGS; Probabilistic model |
| تواريخ الأحداث: | Date Created: 20211113 Date Completed: 20220310 Latest Revision: 20220310 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.ctarc.2021.100484 |
| PMID: | 34773797 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 2468-2942 |
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| DOI: | 10.1016/j.ctarc.2021.100484 |