Evidence map›Paper›PMID 33500480›Full record

ArticleScientific reports2021

Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma.

Paula Sánchez-Fernández, Cristina Riobello, María Costales, Blanca Vivanco, Virginia N Cabal, Rocío García-Marín, Laura Suárez-Fernández, Fernando López, Rubén Cabanillas, Mario A Hermsen and 1 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 2 pooled it
6.1field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.

  1. Pooled it
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  5. Clinical, genetic and immunohistochemical characterization of sinonasal tumors with neuroectodermal differentiation.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
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  7. Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Paula Sánchez-Fernández *Department Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Cristina Riobello *Department Head and Neck Oncology, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Centro de Investigación Biomédica en Red (CIBER-ONC), Edf. FINBA, N-1 F49, C/ Avenida de Roma s/n, 33011, Oviedo, Spain.
María CostalesDepartment Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Blanca VivancoDepartment Pathology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Virginia N CabalDepartment Head and Neck Oncology, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Centro de Investigación Biomédica en Red (CIBER-ONC), Edf. FINBA, N-1 F49, C/ Avenida de Roma s/n, 33011, Oviedo, Spain.
Rocío García-MarínDepartment Head and Neck Oncology, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Centro de Investigación Biomédica en Red (CIBER-ONC), Edf. FINBA, N-1 F49, C/ Avenida de Roma s/n, 33011, Oviedo, Spain.
Laura Suárez-FernándezDepartment Head and Neck Oncology, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Centro de Investigación Biomédica en Red (CIBER-ONC), Edf. FINBA, N-1 F49, C/ Avenida de Roma s/n, 33011, Oviedo, Spain.
Fernando LópezDepartment Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Rubén CabanillasCabanillas Precision Consulting, Zurich, Switzerland.
Mario A HermsenDepartment Head and Neck Oncology, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Centro de Investigación Biomédica en Red (CIBER-ONC), Edf. FINBA, N-1 F49, C/ Avenida de Roma s/n, 33011, Oviedo, Spain. mhermsen@hca.es.ORCID http://orcid.org/0000-0002-5959-6289
José Luis LlorenteDepartment Otolaryngology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Centro de Investigación Biomédica en Red de Cáncer · ESHospital Universitario Central de Asturias · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intestinal-type sinonasal adenocarcinoma (ITAC) is a rare tumor carrying poor prognosis and needing new treatment options. The aim of this study was to identify actionable gene mutations that can guide new personalized target-specific therapies in ITAC patients. A series of 48 tumor and 27 corresponding germline DNA samples were analyzed by next generation sequencing using a panel of 120 genes. In total, 223 sequence variants were found in 70 genes. Matched tumor/germline comparison in 27 cases revealed that 57% were in fact germline variants. In 20 of these 27 cases, 58 somatic variants in 33 different genes were identified, the most frequent being PIK3CA (5 cases), APC and ATM (4 cases), and KRAS, NF1, LRP1B and BRCA1 (3 cases). Many of the somatic gene variants affected PI3K, MAPK/ERK, WNT and DNA repair signaling pathways, although not in a mutually exclusive manner. None of the alterations were related to histological ITAC subtype, tumor stage or survival. Our data showed that thorough interpretation of somatic mutations requires sequencing analysis of the corresponding germline DNA. Potentially actionable somatic mutations were found in 20 of 27 cases, 8 of which being biomarkers of FDA-approved targeted therapies. Our data implicate new possibilities for personalized treatment of ITAC patients.

Indexed as

AdenocarcinomaBiomarkers, TumorClass I Phosphatidylinositol 3-KinasesDNA RepairGenes, BRCA1High-Throughput Nucleotide SequencingHumansMutationProto-Oncogene Proteins p21(ras)Receptors, LDLBiomarkers, TumorClass I Phosphatidylinositol 3-KinasesKRAS protein, humanLRP1B protein, humanPIK3CA protein, humanProto-Oncogene Proteins p21(ras)Receptors, LDL

Identifiers

PMID33500480
PMCPMC7838394
OpenAlexW3123548326

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.