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Original research
Adequacy of small biopsy and cytology specimens for comprehensive genomic profiling of patients with non-small-cell lung cancer to determine eligibility for immune checkpoint inhibitor and targeted therapy
  1. Erin Faber1,
  2. Horiana Grosu2,
  3. Sharjeel Sabir3,
  4. Francis Anthony San Lucas4,
  5. Bedia A Barkoh4,
  6. Roland L Bassett5,
  7. Rajyalakshmi Luthra4,
  8. John Stewart1,
  9. Sinchita Roy-Chowdhuri1
  1. 1Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  2. 2Department of Pulmonary Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  3. 3Department of Interventional Radiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  4. 4Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  5. 5Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  1. Correspondence to Dr Sinchita Roy-Chowdhuri, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, USA; sroy2{at}mdanderson.org

Abstract

Aims In advanced-stage non-small-cell lung cancer (NSCLC), incomplete genotyping for guideline-recommended genomic biomarkers poses a significant challenge to making informed and timely clinical decisions. We report our institution’s experience in assessing the adequacy of small specimens for comprehensive genomic profiling for guideline-recommended lung cancer biomarker testing.

Methods We performed a retrospective evaluation of all image-guided procedures for NSCLC performed in our institution between October 2016 and July 2018, including core needle biopsy (CNB) and fine-needle aspiration (FNA) in patients who had undergone genomic profiling for lung cancer. Lung cancer biomarker adequacy, defined as successful testing of guideline-recommended biomarkers including, epidermal growth factor receptor (EGFR); serine/threonine protein kinase B-Raf (BRAF); anaplastic lymphoma kinase (ALK); proto-oncogene tyrosine protein kinase ROS (ROS1); Rearranged during Transfection (RET); Tyrosine protein kinase Met (MET); and programmed cell death ligand 1 (PD-L1), was evaluated.

Results A total of 865 cases were evaluated in this study, 785 of which included testing of all lung cancer biomarkers. Lung tissue was adequate for biomarker testing in 84% of cases; this rate increased to 87% when biomarker testing was combined with concurrently acquired FNA or CNB specimens. Biomarker testing success correlated strongly with DNA concentration (p<0.0001) and the use of 22G needles in endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) procedures (p=0.0035). Biomarker testing of CNB specimens showed a significantly higher success rate than did biomarker testing of cytology FNA specimens (p=0.0005). The adequacy of EBUS-TBNA samples was not significantly different from that of the transthoracic needle aspiration samples (p=0.40). Variables such as age, gender, lesion size, site, diagnosis and number of needle passes showed no significant correlation with success rates in lung cancer biomarker testing.

Conclusion The growing numbers of therapeutic biomarkers in NSCLC requires judicious triage of limited-volume tissue from small specimens. Our study showed that thoracic small tissue specimens can be used successfully to provide prognostic and predictive information for the current guideline-recommended biomarkers for NSCLC in most cases.

  • carcinoma
  • lung
  • lung neoplasms
  • molecular biology
  • cytological techniques

Data availability statement

All data relevant to the study are included in the article.

https://doi.org/10.1136/jclinpath-2021-207597

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    Data availability statement

    All data relevant to the study are included in the article.

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    Footnotes

    • Handling editor Runjan Chetty.

    • Twitter @Sinchita_Roy

    • Contributors Conception and design of the work: SR-C. Acquisition, analysis and interpretation of data: EF, SR-C. Acquisition of data: HG, SS, FASL and BAB. Drafting/revising the work: EF and SR-C. Analysis and interpretation of data: RLB. Final approval of the version published: all authors.

    • Funding This work was supported in part by the NIH/NCI Cancer Centre Support Grant (award number P30 CA016672) and used the Biostatistics Resource Group.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.