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Mutation Spectrum i...
Mutation Spectrum in Liquid Versus Solid Biopsies From Patients With Advanced Gastroenteropancreatic Neuroendocrine Carcinoma.
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Knappskog, Stian (author)
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Grob, Tobias (author)
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Venizelos, Andreas (author)
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Amstutz, Ursula (author)
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Hjortland, Geir O (author)
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Lothe, Inger M (author)
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Kersten, Christian (author)
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Hofsli, Eva (author)
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Sundlöv, Anna (author)
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Elvebakken, Hege (author)
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Garresori, Herish (author)
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Couvelard, Anne (author)
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- Svensson, Johanna (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology
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Sorbye, Halfdan (author)
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Perren, Aurel (author)
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(creator_code:org_t)
- 2023
- 2023
- English.
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In: JCO precision oncology. - 2473-4284. ; 7
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- Gastroenteropancreatic neuroendocrine carcinomas (GEP-NEC) are rare and have a poor prognosis. Most GEP-NEC are diagnosed with metastatic disease, with only minor biopsies available for molecular diagnostics. We assessed the applicability of liquid biopsies for molecular profiling of GEP-NEC.We performed massive parallel sequencing of 76 cancer-related genes in circulating tumor DNA from 50 patients with advanced GEP-NEC and compared findings to previous analyses of solid tumor biopsies from the same patients. Plasma samples were collected before therapy, and the median time span between blood and tissue sampling was 25 days.We detected 178 somatic mutations in the liquid biopsies, 127 (71%) were also detected in the solid biopsies, whereas 51 (29%) were unique to the liquid biopsies. In the same 76 genes, we previously detected 199 somatic mutations (single nucleotide variants) in solid biopsies, of which 127 (64%) were also now detected in liquid biopsies. In exploratory subgroup assessments, concordance was higher in patients with liver metastases (P = 1.5 × 10-5) and increasing with level of liver involvement (P = 1.2 × 10-4). The concordance was similar between GEP-NEC with different primary sites, except being lower in esophageal cases (P = .001). Concordance was not associated with tumor mutation burden. Tumor tissue mutations also detected in liquid biopsies was lower for MSI (40%) versus MSS tumors (70%; P = 7.8 × 10-4). We identified potentially targetable mutations in plasma of 26 (52%) of patients with GEP-NEC; nine patients (18%) had potentially targetable mutation detected only in liquid biopsies.Liquid biopsy analyses may be an applicable alternative to solid biopsies in GEP-NEC. Liquid biopsies may add additional mutations compared with tumor biopsies alone and could be useful for biomarker assessment in clinical trials for these patients.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Humans
- Pancreatic Neoplasms
- drug therapy
- Carcinoma
- Neuroendocrine
- drug therapy
- Biomarkers
- Tumor
- genetics
- Mutation
- Biopsy
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Knappskog, Stian
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Grob, Tobias
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Venizelos, Andre ...
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Amstutz, Ursula
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Hjortland, Geir ...
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Lothe, Inger M
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show more...
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Kersten, Christi ...
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Hofsli, Eva
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Sundlöv, Anna
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Elvebakken, Hege
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Garresori, Heris ...
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Couvelard, Anne
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Svensson, Johann ...
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Sorbye, Halfdan
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Perren, Aurel
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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JCO precision on ...
- By the university
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University of Gothenburg