Liquid biopsy: a non-invasive approach for Hodgkin lymphoma genotyping
| Autor: | Alicia Antón, José Antonio Queizán, Verónica González-Calle, M. Eugenia Sarasquete, Marcos González, Alejandro Martín, Miguel Alcoceba, Alejandro Medina, Luis G Díaz, Ramón García-Sanz, Cristina Jimenez, Rebeca Cuello, Francisco Javier Díaz Gálvez, M. Carmen Chillón, Pilar Tamayo, Maria Vidal, Oscar Blanco, María García-Álvarez |
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| Přispěvatelé: | Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Junta de Castilla y León, Cancer Research UK, European Commission |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Oncology medicine.medical_specialty Poor prognosis Adolescent Genotype Genotyping Techniques DNA sequencing Young Adult Internal medicine Next generation sequencing medicine Humans Prospective Studies Liquid biopsy Genotyping Alleles Aged Aged 80 and over business.industry Non invasive Liquid Biopsy High-Throughput Nucleotide Sequencing DNA Neoplasm Hematology Middle Aged Prognosis Hodgkin Disease GNA13 Mutation Hodgkin lymphoma Female Low serum albumin business Circulating tumour DNA |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | The Hodgkin lymphoma (HL) genomic landscape is hardly known due to the scarcity of tumour cells in the tissue. Liquid biopsy employing circulating tumour DNA (ctDNA) can emerge as an alternative tool for non-invasive genotyping. By using a custom next generation sequencing (NGS) panel in combination with unique molecule identifiers, we aimed to identify somatic variants in the ctDNA of 60 HL at diagnosis. A total of 277 variants were detected in 36 of the 49 samples (73·5%) with a good quality ctDNA sample. The median number of variants detected per patient was five (range 1–23) with a median variant allele frequency of 4·2% (0·84–28%). Genotyping revealed somatic variants in the following genes: SOCS1 (28%), IGLL5 (26%), TNFAIP3 (23%), GNA13 (23%), STAT6 (21%) and B2M (19%). Moreover, several poor prognosis features (high LDH, low serum albumin, B-symptoms, IPI ≥ 3 or at an advanced stage) were related to significantly higher amounts of ctDNA. Variant detection in ctDNA by NGS is a feasible approach to depict the genetic features of HL patients at diagnosis. Our data favour the implementation of liquid biopsy genotyping for the routine evaluation of HL patients. This work was partially supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness CIBERONC-CB16/12/00233, and “Una manera de hacer Europa” (Innocampus; CEI-2010-1-0010)”, the Health Council of the Junta de Castilla y León (GRS2037/A/19) (GRS1845/A/18) and private Gilead (GLD/18/00063). MGA is supported with a grant from the Accelerator consortia (Cancer Research UK; C355/A26819). CJ and AM are supported by the ISCII (CD19/00030 and FI19/00320). MES is supported by Contrato Miguel Servet tipo II (CPII18/00028). MA is financed by CIBER-CB16/12/00233. All Spanish funding is co-sponsored by the European Union FEDER program. |
| Databáze: | OpenAIRE |
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