PDF herunterladen
Open Access
CC BY 4.0 · Glob Med Genet 2023; 10(03): 172-187
DOI: 10.1055/s-0043-1771193
Original Article

BL-MOL-AR Project, Preliminary Results about Liquid Biopsy: Molecular Approach Experience and Research Activity in Oncological Settings

Autoren

  • Alessandro Pancrazzi

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Francesco Bloise

    2   Oncology Department, Unit of Medical Oncology, San Donato Hospital, Arezzo, Italy

  • Alice Moncada

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Roberta Perticucci

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Stefania Vecchietti

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Francesca Pompili

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Francesca Ricciarini

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Silvia Lenzi

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Cristina Gatteschi

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

  • Sabrina Giusti

    2   Oncology Department, Unit of Medical Oncology, San Donato Hospital, Arezzo, Italy

  • Maria Pia Rosito

    2   Oncology Department, Unit of Medical Oncology, San Donato Hospital, Arezzo, Italy

  • Sabrina Del Buono

    2   Oncology Department, Unit of Medical Oncology, San Donato Hospital, Arezzo, Italy

  • Paola Belardi

    2   Oncology Department, Unit of Medical Oncology, San Donato Hospital, Arezzo, Italy

  • Alessandra Bruni

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Filippo Borri

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Andrea Campione

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Lorella Laurini

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Rossella Occhini

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Loretta Presenti

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Viviana Viticchi

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Maja Rossi

    4   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, Misericordia Hospital, Grosseto, Italy

  • Sara Bardi

    4   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, Misericordia Hospital, Grosseto, Italy

  • Antonio D'Urso

    5   General Management, Local Health Unit South-East Tuscany, Tuscany, Italy

  • Simona Dei

    5   General Management, Local Health Unit South-East Tuscany, Tuscany, Italy

  • Duccio Venezia

    6   Diagnostic Imaging Department, Radiology Unit, San Donato Hospital, Arezzo, Italy

  • Raffaele Scala

    7   Cardio Thoracic Neuro Vascular Department, Pneumology Unit, San Donato Hospital, Arezzo, Italy

  • Carmelo Bengala

    8   Oncology Department, Unit of Medical Oncology, Misericordia Hospital, Grosseto, Italy

  • Nicola Libertà Decarli

    9   Oncology Department, Pathological Anatomy Laboratory, Misericordia Hospital, Grosseto, Italy

  • Andrea Carnevali

    3   Oncology Department, Pathological Anatomy Laboratory, San Donato Hospital, Italy

  • Carlo Milandri

    2   Oncology Department, Unit of Medical Oncology, San Donato Hospital, Arezzo, Italy

  • Agostino Ognibene

    1   Laboratory Medicine Department, Clinical and Molecular Pathology Sector, San Donato Hospital, Arezzo, Italy

Funding This work was supported through equipment donations by CALCIT, the Independent Committee for the Fight against Tumors from Arezzo, and the Committee for Life from Grosseto. Resources were also used from the structural fund of the Department of Laboratory and Transfusion Medicine of the South East Tuscany local health unit (BL-MOL-AR project, CINECA registration number: 16609).
Weitere Informationen
Auch verfügbar auf
  Lizenzen und Reprints

Abstract

Background Liquid biopsy is mainly used to identify tumor cells in pulmonary neoplasms. It is more often used in research than in clinical practice. The BL-MOL-AR study aims to investigate the efficacy of next-generation sequencing (NGS) and clinical interpretation of the circulating free DNA (cfDNA) levels. This study reports the preliminary results from the first samples analyzed from patients affected by various neoplasms: lung, intestinal, mammary, gastric, biliary, and cutaneous.

Methods The Biopsia Liquida-Molecolare-Arezzo study aims to enroll cancer patients affected by various malignancies, including pulmonary, intestinal, advanced urothelial, biliary, breast, cutaneous, and gastric malignancies. Thirty-nine patients were included in this preliminary report.

At time zero, a liquid biopsy is executed, and two types of NGS panels are performed, comprising 17 genes in panel 1, which is already used in the routine tissue setting, and 52 genes in panel 2. From the 7th month after enrollment, 10 sequential liquid biopsies are performed up to the 17th month. The variant allele frequency (%) and cfDNA levels (ng/mL) are measured in every plasmatic sample.

Results The NGS results obtained by different panels are similar even though the number of mutations is more concordant for lung pathologies. There are no significant differences in the actionability levels of the identified variants. Most of the molecular profiles of liquid biopsies reflect tissue data.

Conclusions Preliminary data from this study confirm the need to clarify the limitations and potential of liquid biopsy beyond the lung setting. Overall, parameters related to cfDNA levels and variant allele frequency could provide important indications for prognosis and disease monitoring.

Keywords

liquid biopsy - cfDNA - NGS

Ethics Approval and Consent to Participate

The current study was performed in accordance with the ethical guidelines established by the Declaration of Helsinki. All participants in this study provided informed consent as approved by the ethics committee of the South East Tuscany local health unit.


Consent for Publication

Not applicable.


Availability of Data and Materials

Datasets and custom scripts are available upon request.


Author Contributions

FB and PB organized the recruitment agenda and FB together with CB, SG, MPR, SD, CM, and RS carried out the visits. AM, FP, MR, and SB performed the primary analyses of the NGS data. AC, NLD, VV, AB, FB, RO, LP, LL, and AC examined the histological preparations. RP, SV, SL, FR, and CR processed the blood samples and set up the molecular investigations. DV carried out the radio diagnostic investigations. AD and SD provided the facilities. AO conceived the project and AP wrote it, processed and interpreted the data, and wrote the manuscript. All the authors read and approved the final manuscript.




Publikationsverlauf

Artikel online veröffentlicht:
14. Juli 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany