Subtyping and EGFR mutation testing from blocks of cytological materials, based on liquid‐based cytology for lung cancer at bronchoscopic examinations

Tanaka, Ryota; Ohtsuka, Kouki; Ogura, Wataru; Arai, Nobuyuki; Yoshida, Tsutomu; Nakazato, Yoko; Tachibana, Kaori; Takata, Saori; Fujiwara, Masachika; Kamma, Hiroshi; Shibahara, Junji; Kondo, Haruhiko

doi:10.1002/dc.24397

Cited by 13 publications

(24 citation statements)

References 45 publications

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“…However, in comparison with smears and CBs, residual LBC specimens have some disadvantages for NGS appilication. 7,[11][12][13][14] In NGS analysis of scraped cells from smears, the same cells observed by cytopathologists are subjected to molecular testing. The cell scraping is also possible from LBC slides, while NGS analysis from residual LBC specimens is not necessary to sacrifice the smear slides.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, residual LBC specimens would potentially serve as an alternative source for molecular testing in the diagnosis of cancers. However, in comparison with smears and CBs, residual LBC specimens have some disadvantages for NGS appilication 7,11‐14 . In NGS analysis of scraped cells from smears, the same cells observed by cytopathologists are subjected to molecular testing.…”

Section: Introductionmentioning

confidence: 99%

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Next‐generation sequencing in residual liquid‐based cytology specimens for cancer genome analysis

Yamaguchi

Akahane

Harada

et al. 2020

Diagnostic Cytopathology

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Background: Cancer genome profiling of cytology specimens using next-generation sequencing (NGS) requires adequate and good-quality DNA. Genomic examination of cytology samples was conventionally performed on cell block (CB) or smear specimens than on residual liquid-based cytology (LBC) specimens, which are high-quality DNA sources even after long-term storage. Methods: We estimated tumor fractions of 37 residual LBC specimens, including 30 fine needle aspiration (FNA) samples from the thyroid (12 papillary thyroid carcinomas and two malignant lymphomas), lymph node (13 metastatic carcinomas and one malignant lymphoma), and breast cancer (one phyllodes tumor and one invasive ductal carcinoma), two pancreatic carcinoma samples, and five liquid (ascites, pleural effusion, and cerebrospinal fluid) samples. The DNA was extracted from all samples and subjected to NGS using a customized cancer gene panel comprising 28 cancerrelated genes. Results: NGS analysis revealed somatic mutations corresponding to pathological diagnosis with adequate variant allele frequency (VAF) in 24 LBC specimens, which had significantly higher tumor fraction (72.5% ± 4.9%). Ten cases, including the five fluid samples, had very small tumor fractions (7.5% ± 2.3%) to obtain sufficient VAF. Other two samples had high tumor fractions but showed very low VAF, indicating the presence of fusion genes. The remaining one sample yielded no DNA recovery. Conclusion: The residual LBC specimens collected by FNA from the thyroid gland and lymph node were verified to carry high tumor fraction and could serve as an alternate source for molecular testing to screen and diagnose cancers without the use of CB or smears.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Next‐generation sequencing in residual liquid‐based cytology specimens for cancer genome analysis

Yamaguchi

Akahane

Harada

et al. 2020

Diagnostic Cytopathology

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“…Forty full-text articles were obtained, after exclusion of 428 studies based on title and abstract screening. Finally, 15 studies [17-31] were included in this review, with 13 studies [17-24, 27-31] included in the pooled analysis, and 25 studies excluded with reasons stated in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

Concordance of Cytological Specimens with Histological Tissue for Detection of Epidermal Growth Factor Receptor Mutation in Non-Small Cell Lung Cancer: A Systematic Review

Chua

Chuah

2021

Acta Cytologica

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Introduction: There is increasing need for more testing in non-small cell lung cancer given the introduction of newer targeted therapies. Cytological specimens including conventional smears (CS), cell blocks (CB), and liquid-based cytology (LBC) are an alternative to histologic tissue (HT) specimens in detecting EGFR mutations, but the concordance of these 2 specimens is yet to be determined. The aim of the present systematic review is to determine the concordance rates between different cytologic specimens with HT in detecting EGFR mutations. Methods: PubMed, Cochrane Library, and Google Scholar were utilized in the primary search, along with reference lists of electronically retrieved full-text articles. Concordance rates were pooled together if 2 or more studies reporting the same type of cytologic specimen were available. Results: Overall, 15 studies were included in this review, with 13 studies included in the pooled analysis. There was an overall concordance rate of 92.8% in 593 paired cytologic and HT specimens, with LBC having the highest concordance rate of 96.0%, followed by CS and CB, each with a concordance rate of 95.8%, although the concordance rate of CS and/or CB was lower at 90.6% with a larger pool of studies. LBC was found to have a significantly higher concordance rate than CS and/or CB. Conclusion: Cytological specimens have a high concordance rate in detecting EGFR mutations, when compared to HT. LBC has shown superior concordance rates compared to CS and CB. Cytological specimens should be considered as an additional and alternative source of diagnostic material for EGFR testing.

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“…These genomic alterations are detectable on cytological samples and in liquid biopsies (LB) and are certainly the first mutations that are looked for in routine clinical practice for patients in care [63]. In this regard, many targeted sequencing methods, allowing for results in a short amount of time from cytological or blood specimens, have been used in many hospitals [64][65][66]. More recently, NGS methods have developed from these specimens, notably for EGFR status evaluation at baseline [67].…”

Section: Biomarkers Assessed At Diagnosis With Cytological Samples And/or Liquid Biopsies Obtained From Advanced Non-squamous Non-small-cmentioning

confidence: 99%

What Is New in Biomarker Testing at Diagnosis of Advanced Non-Squamous Non-Small Cell Lung Carcinoma? Implications for Cytology and Liquid Biopsy

Hofman

2021

JMP

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The discovery and clinical validation of biomarkers predictive of the response of non-squamous non-small-cell lung carcinomas (NS-NSCLC) to therapeutic strategies continue to provide new data. The evaluation of novel treatments is based on molecular analyses aimed at determining their efficacy. These tests are increasing in number, but the tissue specimens are smaller and smaller and/or can have few tumor cells. Indeed, in addition to tissue samples, complementary cytological and/or blood samples can also give access to these biomarkers. To date, it is recommended and necessary to look for the status of five genomic molecular biomarkers (EGFR, ALK, ROS1, BRAFV600, NTRK) and of a protein biomarker (PD-L1). However, the short- and more or less long-term emergence of new targeted treatments of genomic alterations on RET and MET, but also on others’ genomic alteration, notably on KRAS, HER2, NRG1, SMARCA4, and NUT, have made cellular and blood samples essential for molecular testing. The aim of this review is to present the interest in using cytological and/or liquid biopsies as complementary biological material, or as an alternative to tissue specimens, for detection at diagnosis of new predictive biomarkers of NS-NSCLC.

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Subtyping and EGFR mutation testing from blocks of cytological materials, based on liquid‐based cytology for lung cancer at bronchoscopic examinations

Cited by 13 publications

References 45 publications

Next‐generation sequencing in residual liquid‐based cytology specimens for cancer genome analysis

Next‐generation sequencing in residual liquid‐based cytology specimens for cancer genome analysis

Concordance of Cytological Specimens with Histological Tissue for Detection of Epidermal Growth Factor Receptor Mutation in Non-Small Cell Lung Cancer: A Systematic Review

What Is New in Biomarker Testing at Diagnosis of Advanced Non-Squamous Non-Small Cell Lung Carcinoma? Implications for Cytology and Liquid Biopsy

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