Evidence map›Paper›PMID 38711096›Full record

ArticleGenes and environment : the official journal of the Japanese Environmental Mutagen Society2024

Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure.

Lauri J Sipilä, Riku Katainen, Mervi Aavikko, Janne Ravantti, Iikki Donner, Rainer Lehtonen, Ilmo Leivo, Henrik Wolff, Reetta Holmila, Kirsti Husgafvel-Pursiainen and 1 more

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Article in Genes and environment : the official journal of the Japanese Environmental Mutagen Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
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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.

Lauri J SipiläDepartment of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8), PO Box 63, Helsinki, FI-00014, Finland.
Riku KatainenDepartment of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8), PO Box 63, Helsinki, FI-00014, Finland.
Mervi AavikkoDepartment of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8), PO Box 63, Helsinki, FI-00014, Finland.
Janne RavanttiDepartment of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8), PO Box 63, Helsinki, FI-00014, Finland.
Iikki DonnerOrganismal and Evolutionary Biology Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Viikinkaari 9, Helsinki, 00014, Finland.
Rainer LehtonenDepartment of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8), PO Box 63, Helsinki, FI-00014, Finland.
Ilmo LeivoInstitute of Biomedicine, Pathology, University of Turku, Kiinamyllynkatu 10, Turku, D 5035, 20520, Finland.
Henrik WolffFinnish Institute of Occupational Health, PB 40, Helsinki, 00251, Finland.
Reetta HolmilaFinnish Institute of Occupational Health, PB 40, Helsinki, 00251, Finland.
Kirsti Husgafvel-PursiainenFinnish Institute of Occupational Health, PB 40, Helsinki, 00251, Finland.
Lauri A AaltonenDepartment of Medical and Clinical Genetics, University of Helsinki, Biomedicum Helsinki, Haartmaninkatu 8), PO Box 63, Helsinki, FI-00014, Finland. lauri.aaltonen@helsinki.fi.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSinonasal adenocarcinoma is a rare cancer, encompassing two different entities, the intestinal-type sinonasal adenocarcinoma (ITAC) and the non-intestinal-type sinonasal adenocarcinoma (non-ITAC). Occurrence of ITAC is strongly associated with exposure to hardwood dusts. In countries with predominant exposure to softwood dust the occurrence of sinonasal adenocarcinomas is lower and the relative amount of non-ITACs to ITACs is higher. The molecular mechanisms behind the tumorigenic effects of wood dust remain largely unknown.

methodsWe carried out whole-genome sequencing of formalin-fixed paraffin-embedded (FFPE) samples of sinonasal adenocarcinomas from ten wood dust-exposed and six non-exposed individuals, with partial tobacco exposure data. Sequences were analyzed for the presence of mutational signatures matching COSMIC database signatures. Driver mutations and CN variant regions were characterized.

resultsMutation burden was higher in samples of wood dust-exposed patients (p = 0.016). Reactive oxygen species (ROS) damage-related mutational signatures were almost exclusively identified in ITAC subtype samples (p = 0.00055). Tobacco smoke mutational signatures were observed in samples of patients with tobacco exposure or missing information, but not in samples from non-exposed patients. A tetraploidy copy number (CN) signature was enriched in ITAC subtype (p = 0.042). CN variation included recurrent gains in COSMIC Cancer Gene Census genes TERT, SDHA, RAC1, ETV1, PCM1, and MYC. Pathogenic variants were observed most frequently in TP53, NF1, CHD2, BRAF, APC, and LRP1B. Driver mutations and copy number gains did not segregate by subtype.

conclusionsOur analysis identified distinct mutational characteristics in ITAC and non-ITAC. Mutational signature analysis may eventually become useful for documentation of occupation-related cancer, while the exact mechanisms behind wood dust-driven carcinogenesis remain elusive. The presence of homologous recombination deficiency signatures implies a novel opportunity for treatment, but further studies are needed.

Indexed as

CancerEnvironmental exposureFormalin-fixed paraffin-embedded tissueMutational signatureOccupational healthSinonasal adenocarcinomaTobaccoWood dust

Identifiers

PMID38711096
PMCPMC11071320

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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.