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Comparative Targeted Genome Profiling between Solid and Liquid Biopsies in Gastroenteropancreatic Neuroendocrine
Irene Gagliardi1, Federica Campolo2, Patricia Borges de Souza3
1Section of Endocrinology and Internal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Neuroendocrinology
|October 24, 2024
Summary
Liquid biopsy (LB) shows promise for evaluating the mutational profile of gastroenteropancreatic neuroendocrine tumors (GEP-NETs), offering a less invasive alternative to solid biopsy (SB). This pilot study found genetic similarities between LB and SB, supporting LB
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) exhibit significant variability in clinical presentation and genetic profiles, complicating patient management.
- Solid biopsy (SB) is invasive; liquid biopsy (LB) using circulating tumor DNA offers a less invasive approach for genetic profiling.
- Comparing the mutational profiles obtained from LB and SB is crucial for validating LB's utility in GEP-NETs.
Purpose of the Study:
- To compare the mutational profiles (MP) derived from liquid biopsy (LB) and solid biopsy (SB) in patients with GEP-NETs.
- To assess the concordance and genetic similarity between mutational data obtained from LB and SB.
- To explore the potential of LB as a viable alternative to SB for GEP-NET mutational analysis.
Main Methods:
- Simultaneous collection of SB and LB samples from 6 GEP-NET patients.
- Targeted next-generation sequencing (NGS) of 11 key genes (MEN1, DAXX, ATRX, MUTYH, SETD2, DEPDC5, TSC2, ARID1A, CHECK2, MTOR, PTEN).
- Comparative analysis of mutational status, variant types, and mutational burden between SB and LB specimens.
Main Results:
- NGS detected a comparable median number of variants in both SB (55/sample) and LB (66.5/sample) specimens.
- Commonly mutated genes in SB included ARID1A, MTOR, and ATRX, while LB consistently showed mutations in ARID1A, TSC2, MEN1, PTEN, SETD2, and MUTYH.
- Seventeen recurrent mutations were shared between SB and LB, with specific MTOR variants found in 5 out of 6 patients, indicating genetic similarity.
- Hierarchical clustering confirmed the genetic similarity between LB and SB-derived mutational profiles.
Conclusions:
- Liquid biopsy (LB) is a potentially applicable method for evaluating the mutational profile of GEP-NETs.
- The study highlights the genetic similarity between LB and SB, supporting LB's utility.
- Larger cohort studies are necessary to validate LB and determine its clinical significance in GEP-NET management.
