Methylation Drivers and Prognostic Implications in Sinonasal Poorly Differentiated Carcinomas Article Swipe
Laura Libera
,
Giorgia Ottini
,
Nora Sahnane
,
Fabiana Pettenon
,
Mario Turri‐Zanoni
,
Alessia Lambertoni
,
Anna Maria Chiaravalli
,
Federico Leone
,
Paolo Battaglia
,
Paolo Castelnuovo
,
Silvia Uccella
,
Daniela Furlan
,
Carla Facco
,
Fausto Sessa
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3390/cancers13195030
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3390/cancers13195030
Background: Poorly differentiated sinonasal carcinomas (PDSNCs) are rare and aggressive malignancies, which include squamous cell carcinoma (SCC), sinonasal undifferentiated carcinoma (SNUC), and neuroendocrine carcinomas (NEC). Several epigenetic markers have been suggested to support the histopathological classification, predict prognosis, and guide therapeutic decision. Indeed, molecularly distinct subtypes of sinonasal carcinomas, including SMARCB1-INI1 or SMARCA4 deficient sinonasal carcinoma, isocitrate dehydrogenase (IDH)-mutant SNUC, ARID1A mutant PDSNCs, and NUT carcinomas, have recently been proposed as separate entities. Identification of aberrant DNA methylation levels associated with these specific epigenetic driver genes could be useful for prognostic and therapeutic purpose. Methods: Histopathological review and immunohistochemical study was performed on 53 PDSNCs. Molecular analysis included mutational profile by NGS, Sanger sequencing, and MLPA analyses, and global DNA methylation profile using LINE-1 bisulfite-PCR and pyrosequencing analysis. Results: Nine SWI/SNF complex defective cases and five IDH2 p.Arg172x cases were identified. A significant correlation between INI-1 or IDH2 defects and LINE-1 hypermethylation was observed (p = 0.002 and p = 0.032, respectively), which were associated with a worse prognosis (p = 0.007). Conclusions: Genetic and epigenetic characterization of PDSNCs should be performed to identify distinct prognostic entities, which deserved a tailored clinical treatment.
Related Topics
Concepts
Sanger sequencing
DNA methylation
Epigenetics
SMARCA4
Biology
Cancer research
Pathology
Methylation
SMARCB1
Carcinoma
Medicine
DNA sequencing
Gene
Genetics
Chromatin remodeling
Gene expression
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/cancers13195030
- https://www.mdpi.com/2072-6694/13/19/5030/pdf?version=1634029105
- OA Status
- gold
- Cited By
- 19
- References
- 44
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3202804314
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3202804314Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/cancers13195030Digital Object Identifier
- Title
-
Methylation Drivers and Prognostic Implications in Sinonasal Poorly Differentiated CarcinomasWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-10-08Full publication date if available
- Authors
-
Laura Libera, Giorgia Ottini, Nora Sahnane, Fabiana Pettenon, Mario Turri‐Zanoni, Alessia Lambertoni, Anna Maria Chiaravalli, Federico Leone, Paolo Battaglia, Paolo Castelnuovo, Silvia Uccella, Daniela Furlan, Carla Facco, Fausto SessaList of authors in order
- Landing page
-
https://doi.org/10.3390/cancers13195030Publisher landing page
- PDF URL
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https://www.mdpi.com/2072-6694/13/19/5030/pdf?version=1634029105Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.mdpi.com/2072-6694/13/19/5030/pdf?version=1634029105Direct OA link when available
- Concepts
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Sanger sequencing, DNA methylation, Epigenetics, SMARCA4, Biology, Cancer research, Pathology, Methylation, SMARCB1, Carcinoma, Medicine, DNA sequencing, Gene, Genetics, Chromatin remodeling, Gene expressionTop concepts (fields/topics) attached by OpenAlex
- Cited by
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19Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 6, 2023: 5, 2022: 7Per-year citation counts (last 5 years)
- References (count)
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44Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.defects | 148 |
| abstract_inverted_index.include | 12 |
| abstract_inverted_index.markers | 27 |
| abstract_inverted_index.predict | 36 |
| abstract_inverted_index.profile | 109, 121 |
| abstract_inverted_index.support | 32 |
| abstract_inverted_index.(PDSNCs) | 5 |
| abstract_inverted_index.Methods: | 94 |
| abstract_inverted_index.Results: | 128 |
| abstract_inverted_index.aberrant | 75 |
| abstract_inverted_index.analysis | 106 |
| abstract_inverted_index.clinical | 191 |
| abstract_inverted_index.deserved | 188 |
| abstract_inverted_index.distinct | 44, 184 |
| abstract_inverted_index.identify | 183 |
| abstract_inverted_index.included | 107 |
| abstract_inverted_index.observed | 153 |
| abstract_inverted_index.proposed | 69 |
| abstract_inverted_index.purpose. | 93 |
| abstract_inverted_index.recently | 67 |
| abstract_inverted_index.separate | 71 |
| abstract_inverted_index.specific | 82 |
| abstract_inverted_index.squamous | 13 |
| abstract_inverted_index.subtypes | 45 |
| abstract_inverted_index.tailored | 190 |
| abstract_inverted_index.Molecular | 105 |
| abstract_inverted_index.analyses, | 116 |
| abstract_inverted_index.analysis. | 127 |
| abstract_inverted_index.carcinoma | 15, 19 |
| abstract_inverted_index.decision. | 41 |
| abstract_inverted_index.defective | 132 |
| abstract_inverted_index.deficient | 53 |
| abstract_inverted_index.entities, | 186 |
| abstract_inverted_index.entities. | 72 |
| abstract_inverted_index.including | 49 |
| abstract_inverted_index.p.Arg172x | 137 |
| abstract_inverted_index.performed | 101, 181 |
| abstract_inverted_index.prognosis | 168 |
| abstract_inverted_index.sinonasal | 3, 17, 47, 54 |
| abstract_inverted_index.suggested | 30 |
| abstract_inverted_index.aggressive | 9 |
| abstract_inverted_index.associated | 79, 164 |
| abstract_inverted_index.carcinoma, | 55 |
| abstract_inverted_index.carcinomas | 4, 23 |
| abstract_inverted_index.epigenetic | 26, 83, 175 |
| abstract_inverted_index.isocitrate | 56 |
| abstract_inverted_index.mutational | 108 |
| abstract_inverted_index.prognosis, | 37 |
| abstract_inverted_index.prognostic | 90, 185 |
| abstract_inverted_index.treatment. | 192 |
| abstract_inverted_index.Background: | 0 |
| abstract_inverted_index.carcinomas, | 48, 65 |
| abstract_inverted_index.correlation | 143 |
| abstract_inverted_index.identified. | 140 |
| abstract_inverted_index.methylation | 77, 120 |
| abstract_inverted_index.molecularly | 43 |
| abstract_inverted_index.sequencing, | 113 |
| abstract_inverted_index.significant | 142 |
| abstract_inverted_index.therapeutic | 40, 92 |
| abstract_inverted_index.(IDH)-mutant | 58 |
| abstract_inverted_index.Conclusions: | 172 |
| abstract_inverted_index.SMARCB1-INI1 | 50 |
| abstract_inverted_index.bisulfite-PCR | 124 |
| abstract_inverted_index.dehydrogenase | 57 |
| abstract_inverted_index.malignancies, | 10 |
| abstract_inverted_index.Identification | 73 |
| abstract_inverted_index.differentiated | 2 |
| abstract_inverted_index.neuroendocrine | 22 |
| abstract_inverted_index.pyrosequencing | 126 |
| abstract_inverted_index.respectively), | 161 |
| abstract_inverted_index.classification, | 35 |
| abstract_inverted_index.characterization | 176 |
| abstract_inverted_index.hypermethylation | 151 |
| abstract_inverted_index.undifferentiated | 18 |
| abstract_inverted_index.Histopathological | 95 |
| abstract_inverted_index.histopathological | 34 |
| abstract_inverted_index.immunohistochemical | 98 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 91 |
| corresponding_author_ids | https://openalex.org/A5057677177 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 14 |
| corresponding_institution_ids | https://openalex.org/I115752224 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.5699999928474426 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.83480501 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |