Molecular Testing of EGFR, EGFR Resistance Mutation, ALK and ROS1 Achieved by EBUS-TBNA in Chile

Fernández-Bussy, Sebastián; Labarca, Gonzalo; Pires, Yumay; Caviedes, Iván; Burotto, Mauricio

doi:10.1016/j.arbr.2016.11.007

Cited by 19 publications

(17 citation statements)

References 8 publications

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“…Concomitantly, key changes in the treatment of lung cancer (ie, targeted therapy and immunotherapy) have rendered crucial the systematic search for specific driver molecular alterations (ie, EGFR mutation and ALK / ROS1 rearrangements) and other predictive biomarkers (PD‐L1) in patients with advanced disease . As a consequence, the suitability of EBUS‐TBNA samples from lymphadenopathy for the molecular analysis of cancer samples has been investigated in several individual studies . A recent systematic review with meta‐analysis, which included 33 studies and 2869 patients, concluded that EBUS‐TBNA from lymphadenopathy has a high yield (>90%) for EGFR and ALK testing .…”

Section: Introductionmentioning

confidence: 99%

“…5,6 As a consequence, the suitability of EBUS-TBNA samples from lymphadenopathy for the molecular analysis of cancer samples has been investigated in several individual studies. [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] A recent systematic review with meta-analysis, which included 33 studies and 2869 patients, concluded that EBUS-TBNA from lymphadenopathy has a high yield (>90%) for EGFR and ALK testing. 27 However, data on the yield for ROS1 and PD-L1, as well as those on the suitability of EBUS-TBNA samples for next-generation sequencing were scant and prevented the authors from drawing definitive conclusions.…”

Section: Introductionmentioning

confidence: 99%

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Adequacy of endosonography‐derived samples from peribronchial or periesophageal intrapulmonary lesions for the molecular profiling of lung cancer

Livi

Ardizzoni

Cancellieri

et al. 2019

Clinical Respiratory J

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Introduction and Objectives Endosonography is increasingly used for the diagnosis of centrally located, bronchoscopically invisible intrapulmonary lesions, but data regarding its utility for molecular profiling are lacking. We aimed to assess the suitability of endosonography samples obtained from intrapulmonary lesions for cancer genotyping and programmed‐death ligand 1 (PD‐L1) testing. Methods A prospectively collected database regarding 99 consecutive patients undergoing endosonography for the diagnosis of an intrapulmonary lesion was retrospectively reviewed. Genotyping ± PD‐L1 testing was carried out in the 53 patients with advanced lung cancer and was classified as complete if all clinically indicated tests could be performed, incomplete if at least one test could not be carried out, and unsuccessful if the sample was unsuitable for molecular analysis. Results All clinically indicated biomarkers could be tested in 44 (83%) patients, whereas the molecular profiling was classified as incomplete in 6 (11.3%), and unsuccessful in 3 (5.7%). Thirty‐seven genetic alterations (KRAS mutation, 17; EGFR mutation, 17; ALK rearrangement, 3) and 2 cases of PD‐L1 expression >50% were found in 31 (58%) patients. EGFR was successfully analysed in 94.1% of cases, KRAS in 93.9%, ALK in 89%, ROS1 in 90% and PD‐L1 in 63.1%. Conclusion Endosonography‐derived samples from intrapulmonary lesions were suitable for a thorough molecular profiling in most patients. The few cases of incomplete accomplishment of the testing algorithm were related to the failure of PD‐L1 analysis due to the exhaustion of the sample or the lack of sufficient tumour cells in the paraffin‐embedded material.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Adequacy of endosonography‐derived samples from peribronchial or periesophageal intrapulmonary lesions for the molecular profiling of lung cancer

Livi

Ardizzoni

Cancellieri

et al. 2019

Clinical Respiratory J

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“…Endobronchial ultrasound‐guided transbronchial needle aspiration (EBUS‐TBNA), as an alternative to mediastinoscopy, is a minimally invasive procedure that integrates real‐time evaluation during bronchoscopy and sampling of mediastinal and pulmonary hilar lymph nodes and parenchymal masses in patients with advanced NSCLC for morphologic diagnosis, staging, and molecular analysis . Several studies, which are summarized in Table , have demonstrated that cell blocks obtained by EBUS‐TBNA can be reliably used for ALK FISH testing; indeed, informative results were obtained in greater than 90% of cases, and the rearrangement detection rate was similar (3.9%) to that of surgical specimens (3.4%) …”

Section: Alk Rearrangement Detection Techniquesmentioning

confidence: 99%

“…Similar to ALK , an automated software system is an aid to scoring results. Only 2 studies have performed ROS1 FISH on cytologic preparations (Table ) . One of those studies used FFPE cell blocks, and the other used smears .…”

Section: Ros1mentioning

confidence: 99%

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ALK and ROS1 testing on lung cancer cytologic samples: Perspectives

Pisapia

Lozano

Vigliar

et al. 2017

Cancer Cytopathology

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Cytologic sampling is the mainstay of diagnosing advanced lung cancer. Moreover, to select patients for personalized first-line or second-line treatment, epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) and c-ros oncogene 1 (ROS1) rearrangements are tested on cytologic preparations. Commercially available fluorescence in situ hybridization (FISH) and immunocytochemistry (ICC) assays have primarily been used for the identification of cells harboring ALK or ROS1 gene fusions on histologic rather than cytologic preparations. However, it is now recognized that FISH and ICC also can be applied on cytologic samples provided the cytopathologist is aware that FISH and ICC results are not always concordant and that the performance of ICC largely depends on antibody clones, signal detection systems, and scoring systems. Notably, the routine clinical use of FISH and ICC may be replaced by emerging next-generation sequencing and digital, color-coded barcode technologies, which have the advantage of simultaneously evaluating ALK, ROS1, and EGFR alterations in a single analysis. Although their use in clinical cytologic practice remains to be fully established, it is conceivable that this technology will replace both FISH and ICC analyses in future diagnostic algorithms. Here, the authors review studies devoted to testing ALK and ROS1 on cytology specimens in an attempt to provide an update for the cytopathologist regarding current and evolving practice. Cancer Cytopathol 2017;125:817-30. © 2017 American Cancer Society.

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Molecular analysis of peripheral lung adenocarcinoma in brush cytology obtained by EBUS plus fluoroscopy‐guided bronchoscopy

Sánchez-Font

Chalela

Martín-Ontiyuelo

et al. 2018

Cancer Cytopathology

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BACKGROUND: More than 60% of patients with lung cancer are diagnosesd at advanced stages. The introduction of targeted therapies requires molecular diagnosis to guide treatment. The aim of this study was to evaluate the feasibility of performing mutational analysis with brushing specimens obtained by radial-miniprobe endobronchial ultrasound (R-EBUS) plus fluoroscopy-guided bronchoscopy in patients with peripheral pulmonary adenocarcinoma. METHODS:Brushing specimens were deposited on cytological slides and were conserved in Roswell Park Memorial Institute (RPMI) culture medium. DNA was isolated to perform a mutational analysis with real-time quantitative polymerase chain reaction and Sanger sequencing for epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene homolog (KRAS). RESULTS: Thirty patients with adenocarcinoma were prospectively included. In 100% of the patients, the molecular study was viable with brushing specimens. In 16 (53.3%), KRAS or EGFR mutations were detected: 10 KRAS mutations (33.3%) and 6 EGFR mutations (20%). In a comparison with histological samples, a correlation of 86.6% was detected, and only 2 patients with wild-type results from brushing specimens presented with an EGFR mutation in histological samples. CONCLUSIONS: Brushing specimens conserved in RPMI medium and obtained by R-EBUS plus fluoroscopy-guided bronchoscopy are valid for molecular studies. They allow the detection of EGFR/KRAS mutations in patients with peripheral adenocarcinoma. In addition, invasive techniques are avoided, the risk of complications is reduced, and the obtained samples are optimized. Cancer Cytopathol 2018;126:860-871.

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Molecular Testing of EGFR, EGFR Resistance Mutation, ALK and ROS1 Achieved by EBUS-TBNA in Chile

Cited by 19 publications

References 8 publications

Adequacy of endosonography‐derived samples from peribronchial or periesophageal intrapulmonary lesions for the molecular profiling of lung cancer

Adequacy of endosonography‐derived samples from peribronchial or periesophageal intrapulmonary lesions for the molecular profiling of lung cancer

ALK and ROS1 testing on lung cancer cytologic samples: Perspectives

Molecular analysis of peripheral lung adenocarcinoma in brush cytology obtained by EBUS plus fluoroscopy‐guided bronchoscopy

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