Concordance analysis between liquid biopsy (ctDNA) and tumor DNA molecular profiles from panel-based next-generation sequencing.

Natalia Rodon Fonta , Yessica No Garbarinoa, Olga Díaz Castelloa, Juan Moya Amorosb, c, Pedro Barrios Sánchezc, d, David Coroleu Lletgetc, Mª Antonia Lequerica Cabelloc, Joan Borras Marcetc, Sandra Mecho Mecae, Isabel Escapee, Javier Martinez-Ageae, Estefania Garcia f, Marta Ferrer f y Xavier Puig Torrusa, g,  h.

 

a BIOPAT, Biopatologia Molecular SL. Grup Assistència. Avenida Diagonal, 660. 08034 Barcelona, España.

b Ex-jefe de Servicio de Cirugía torácica del Hospital Universitario de Bellvitge y Catedratico de Universidad acreditado (ANECA).

Servicio de Cirugía del Hospital de Barcelona-SCIAS. Grup Assistència. Avenida Diagonal, 660. 08034 Barcelona, España.

d Experto Consultor del Complex Hospitalari Moises Broggi.  Calle Jacint Verdaguer, 12, 08970 Sant Joan Despí, Barcelona.

e Servicio de Radiología del Hospital de Barcelona-SCIAS. Grup Assistència. Avenida Diagonal, 660. 08034 Barcelona, España.

f Servicio de Oncologia del Hospital de Barcelona-SCIAS. Grup Assistència. Avenida Diagonal, 660. 08034 Barcelona, España.

gHistopat Laboratoris SL. Calle Mendel,1. 08034 Barcelona, España.

hSCIAS-Hospital de Barcelona. Grup Assistència. Avenida Diagonal, 660. 08034 Barcelona, España.

 

INTRODUCTION

Analysis of circulating tumor DNA (ctDNA), also known as liquid biopsy, has been postulated to be a useful test in the prognostication, molecular profiling, and monitoring of cancer patients. In this series we aimed to analyze the concordance between the mutation status of formalin-fixed paraffin-embedded (FFPE) tumor samples and matched ctDNA, considering tumor molecular profiling as the gold standard technique.

METHODS

This retrospective study included cancer patients with complete diagnostics and gene mutations detected in a previous FFPE tumor tissue NGS study with a matched frozen plasma sample available for an NGS ctDNA assay.

RESULTS AND DISCUSSION

Sixty patients were included, 24 with colorectal carcinoma (CRC) and 36 with non-small cell lung cancer (NSCLC). In 27.1% of ctDNA studies a new mutation not previously detected in the matched tumor was found. 11.9% of these ctDNA results had the potential to impact clinical management. Globally, the concordance rate between FFPE tumor samples and ctDNA was 44.4%. When tumors were stratified by stage, the concordance was 76.5%, 70%, 36.4%, and 0% in tumor stages IV, III, II, and I, respectively. ctDNA molecular profiles showed a good concordance rate in advanced stage tumors and identified undetected mutations in tumor tissues. In early tumor stages the concordance was low, casting doubt on the usefulness of ctDNA in these patients.

 

Rev Esp Patol   DOI: 10.1016/j.patol.2022.01.001

 

2022-05-23T16:24:49+00:00