DEK::AFF2 Fusion Carcinomas of Head and Neck

Ruangritchankul, Komkrit; Sandison, Ann

doi:10.1097/pap.0000000000000376

Cited by 17 publications

(5 citation statements)

References 52 publications

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“…A morphologically distinct sinonasal carcinoma (prior terminology as transitional, cylindrical cell, Schneiderian, and Ringertz carcinoma) is composed of cytologically atypical neoplastic cells arranged in ribbons that lack maturation and significant keratinization. Two subtypes have been added to the 5th edition WHO Classification of Head and Neck Tumours [52] : (i) HPV-associated – NKSCC defined by the presence of transcriptionally active HPV high risk and (ii) the emerging entity of DEK::AFF2 NKSCC characterized by recurrent DEK::AFF2 fusions [53 – 55] . Morphological differences between NKSCC-NOS and these subtypes of carcinomas are not appreciated.…”

Section: Poorly Differentiated High-grade Sinonasal Carcinomasmentioning

confidence: 99%

Top IHC/ISH Hacks for and Molecular Surrogates of Poorly Differentiated Sinonasal Small Round Cell Tumors

Bell

2024

Head and Neck Pathol

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Background Poorly differentiated sinonasal small round cell tumors (SRCTs) are rare and heterogeneous, posing challenges in diagnosis and treatment. Methods Recent advances in molecular findings and diagnostic refinement have promoted better understanding and management of these tumors. Results The newly defined and emerging sinonasal entities demonstrate diverse morphologies, specific genomic signatures, and clinical behavior from conventional counterparts. In this review of SRCTs, emphasis is placed on the diagnostic approach with the employment of a pertinent panel of immunohistochemistry studies and/or molecular tests, fine-tuned to the latest WHO 5 classification of sinonasal/paranasal tumors and personalized treatment. Conclusion Specifically, this review focuses on tumors with epithelial and neuroectodermal derivation.

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Section: Poorly Differentiated High-grade Sinonasal Carcinomasmentioning

confidence: 99%

Top IHC/ISH Hacks for and Molecular Surrogates of Poorly Differentiated Sinonasal Small Round Cell Tumors

Bell

2024

Head and Neck Pathol

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“…To conclude, the DEK::AFF2 fusion-associated carcinoma was recently detected as a distinct variant of SNSCC [34,35]. In a patient with DEK::AFF2 fusion-associated carcinoma, an exceptional response to ICIs was identified [34,36].…”

Section: Squamous Cell Carcinomamentioning

confidence: 81%

Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers

Esposito

Stucchi

Baronchelli

et al. 2022

JCM

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Despite the progress of surgery, radiotherapy, and neoadjuvant chemotherapy, the prognosis for advanced sinonasal cancers (SNCs) remains poor. In the era of precision medicine, more research has been conducted on the molecular pathways and recurrent mutations of SNCs, with the aim of understanding carcinogenesis, helping with diagnosis, identifying prognostic factors, and finding potentially targetable mutations. In the treatment of SNC, immunotherapy is rarely used, and no targeted therapies have been approved, partly because these tumors are usually excluded from major clinical trials. Data on the efficacy of targeted agents and immune checkpoint inhibitors are scarce. Despite those issues, a tumor-agnostic treatment approach based on targeted drugs against a detected genetic mutation is growing in several settings and cancer subtypes, and could also be proposed for SNCs. Our work aims to provide an overview of the main molecular pathways altered in the different epithelial subtypes of sinonasal and skull base tumors, focusing on the possible actionable mutations for which potential target therapies are already approved in other cancer types.

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“…Since the AFF2 and KLOTHO genes are targets for piR-3215034 and piR-6885965, it is necessary to compare the possible effect of piRNAs on these genes. It should be noted that the AFF2 gene is involved in the development of squamous cell carcinoma [52], sinonasal tract cancer [53], thoracic carcinoma [54], carcinomas of head and neck [55], and in renal cell carcinoma [56,57]. Therefore, by suppressing the oncogenesis caused by the AFF2 gene with piR-3215034 and piR-6885965, the expression of KLOTHO gene will be simultaneously suppressed.…”

Section: Resultsmentioning

confidence: 99%

piRNAs and miRNAs Can Bind to mRNA of <i>KLOTHO</i> and <i>FGF23</i> Genes

Ivashchenko,

Akhmetova,

Zhanuzakov

et al. 2023

Preprint

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The problem of increasing life expectancy is solved with the help of many medical and social areas. It has been established that piRNAs and miRNAs can significantly modify the expression of protein-coding genes by suppressing the translation process. The aim of this work was to establish the possibility of binding piRNAs and miRNAs with mRNA of the KLOTHO and FGF23 genes, which promote health and increase life expectancy through participation in key metabolic processes. We used the MirTarget program, which determines the quantitative characteristics of complementary interactions of all piRNAs and miRNAs nucleotides with mRNA of the genes. piR-44682, piR-1940042, piR-3008660, piR-3215034, piR-6885965, piR-7980636 and one miRNA (ID00756.3p-miR) binding to the mRNA of the KLOTHO gene were found in one cluster of binding sites (BSs). piRNA-6890096 interacted with the mRNA of KLOTHO gene in a fully complementary manner using only canonical nucleotides. Among 17494 human genes, target genes interacting with five piRNAs that bind to the mRNA of KLOTHO gene were identified. mRNA of the AFF2, BCL2L11, CPT1A, DAZAP1, NDRG3, SKIDA1, WBP4, ZIC5, ZSWIM6 genes interacted with piR-3215034 and piR-6885965, which formed clusters of BSs located in 5'UTR, CDS and 3'UTR. The piR-576442, piR-1501557, piR-1845735, piR-2069834, and piR-3029987 had BSs in the mRNAs of the FGF23 gene, located only in the 3'UTR. It is proposed to use piRNAs and miRNAs as regulators of the expression of KLOTHO and FGF23 anti-aging genes.

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DEK::AFF2 Fusion Carcinomas of Head and Neck

Cited by 17 publications

References 52 publications

Top IHC/ISH Hacks for and Molecular Surrogates of Poorly Differentiated Sinonasal Small Round Cell Tumors

Top IHC/ISH Hacks for and Molecular Surrogates of Poorly Differentiated Sinonasal Small Round Cell Tumors

Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers

piRNAs and miRNAs Can Bind to mRNA of <i>KLOTHO</i> and <i>FGF23</i> Genes

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