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Methylation Drivers and Prognostic Implications in Sinonasal Poorly Differentiated Carcinomas.
Libera, Laura; Ottini, Giorgia; Sahnane, Nora; Pettenon, Fabiana; Turri-Zanoni, Mario; Lambertoni, Alessia; Chiaravalli, Anna Maria; Leone, Federico; Battaglia, Paolo; Castelnuovo, Paolo; Uccella, Silvia; Furlan, Daniela; Facco, Carla; Sessa, Fausto.
Afiliação
  • Libera L; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Ottini G; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Sahnane N; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Pettenon F; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Turri-Zanoni M; Division of Otorhinolaryngology, Department of Biotechnology and Life Sciences, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Lambertoni A; Division of Otorhinolaryngology, Department of Biotechnology and Life Sciences, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Chiaravalli AM; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Leone F; Division of Otorhinolaryngology, Department of Biotechnology and Life Sciences, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Battaglia P; Division of Otorhinolaryngology, Department of Biotechnology and Life Sciences, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Castelnuovo P; Division of Otorhinolaryngology, Department of Biotechnology and Life Sciences, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Uccella S; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Furlan D; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Facco C; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
  • Sessa F; Unit of Pathology, Department of Medicine and Surgery, ASST Sette-Laghi, University of Insubria, 21100 Varese, Italy.
Cancers (Basel) ; 13(19)2021 Oct 08.
Article em En | MEDLINE | ID: mdl-34638515
ABSTRACT

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.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article