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Sökning: L773:2473 4284 > (2023) > Mutation Spectrum i...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004011naa a2200565 4500
001oai:gup.ub.gu.se/331166
003SwePub
008240528s2023 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/3311662 URI
0247 a https://doi.org/10.1200/PO.22.003362 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Knappskog, Stian4 aut
2451 0a Mutation Spectrum in Liquid Versus Solid Biopsies From Patients With Advanced Gastroenteropancreatic Neuroendocrine Carcinoma.
264 1c 2023
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a Humans
653 a Pancreatic Neoplasms
653 a drug therapy
653 a Carcinoma
653 a Neuroendocrine
653 a drug therapy
653 a Biomarkers
653 a Tumor
653 a genetics
653 a Mutation
653 a Biopsy
7001 a Grob, Tobias4 aut
7001 a Venizelos, Andreas4 aut
7001 a Amstutz, Ursula4 aut
7001 a Hjortland, Geir O4 aut
7001 a Lothe, Inger M4 aut
7001 a Kersten, Christian4 aut
7001 a Hofsli, Eva4 aut
7001 a Sundlöv, Anna4 aut
7001 a Elvebakken, Hege4 aut
7001 a Garresori, Herish4 aut
7001 a Couvelard, Anne4 aut
7001 a Svensson, Johannau Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology4 aut0 (Swepub:gu)xsvjod
7001 a Sorbye, Halfdan4 aut
7001 a Perren, Aurel4 aut
7102 a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för onkologi4 org
7730 t JCO precision oncologyg 7q 7x 2473-4284
8564 8u https://gup.ub.gu.se/publication/331166
8564 8u https://doi.org/10.1200/PO.22.00336

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