Tumor mutational burden on cytological samples: A pilot study.

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RESEARCH PRODUCT

Tumor mutational burden on cytological samples: A pilot study.

Roberta Sgariglia Giancarlo Troncone Francesco Pepe Antonino Iaccarino Albino Eccher Mariantonia Nacchio Rossella Tufano Mariacarolina Micheli Pasquale Pisapia Danilo Rocco Ilaria Girolami Umberto Malapelle Gianluca Russo Gianluca Gragnano Pietro Micheli Antonio Russo Caterina De Luca Valerio Gristina

subject

Oncology Male Cancer Research medicine.medical_specialty Lung Neoplasms Cytological Techniques DNA Mutational Analysis 030209 endocrinology & metabolism Pilot Projects 03 medical and health sciences 0302 clinical medicine Internal medicine Carcinoma Non-Small-Cell Lung medicine Biomarkers Tumor Humans Lung cancer Predictive biomarker Aged Retrospective Studies next generation sequencing TMB business.industry Advanced stage Treatment options High-Throughput Nucleotide Sequencing Ion semiconductor sequencing Amplicon medicine.disease Prognosis lung cancer Oncology 030220 oncology & carcinogenesis Mutation cytology Tissue material Female immunotherapy Non small cell business Follow-Up Studies

description

Background Immune-checkpoint inhibitors (ICIs) represent an important treatment option for patients who have advanced stage non-small cell lung cancer (NSCLC). Currently, evaluation of the expression level of programmed death-ligand 1 (PD-L1) has proven highly successful as a positive predictive biomarker for ICIs. In addition to PD-L1, other promising predictive biomarkers are emerging, including high tumor mutational burden (TMB-H). However, measuring TMB-H remains challenging for several reasons, among which is the difficulty in obtaining adequate tissue material from NSCLC patients. There are no data in the current literature regarding the possibility of adopting cell blocks (CBs) for TMB evaluation; therefore, our goal was to evaluate the feasibility of analyzing TMB on CBs. Methods For evaluation of differences in run metric parameters, 8 pairs of histological and CB samples from patients with NSCLC were analyzed using the Oncomine Tumor Mutational Load Assay on Ion Torrent S5 GS next-generation sequencing (NGS) platform. Results Most CBs (6/8, 75.0%) were successfully analyzed by adopting the broad NGS panel approach. CBs provided results similar to those obtained on histological matched specimens in terms of median total reads (7207048.80 vs 7558817.80), median mapped reads (7075753.83 vs 7513822.00), median read lengths (115.50 vs. 113.00), median percentage of reads on-target (97.49% vs. 98.45%), median average reads per amplicon (454.67 vs 476.14), and median uniformity of amplicon coverage (83.52% vs 84.13%). Conclusion In this pilot study, we demonstrated the technical feasibility of assessing TMB on CBs.

year	journal	country	edition	language
2020-11-17	Cancer cytopathologyReferences

10.1002/cncy.22400 https://pubmed.ncbi.nlm.nih.gov/33378102