Molecularly defined sinonasal malignancies: an overview with focus on the current WHO classification and recently described provisional entities

• Published in: Virchows Archiv : an international journal of pathology 2024-06, Vol.484 (6), p.885-900
• Main Authors: Skálová, Alena, Agaimy, Abbas, Bradova, Martina, Poorten, Vincent Vander, Hanna, Ehab, Guntinas-Lichius, Orlando, Franchi, Alessandro, Hellquist, Henrik, Simpson, Roderick H. W., Lopéz, Fernando, Nuyts, Sandra, Chiesa-Estomba, Carlos, Ng, Sweet Ping, Homma, Akihiro, Teng, Yong, Leivo, Ilmo, Ferlito, Alfio
• Format: Article
• Language: English
• Subjects: Abnormalities; Biomarkers, Tumor - analysis; Biomarkers, Tumor - genetics; Cancer; Classification; Genes; Genetics; Head & neck cancer; Head and neck; Histopathology; Human papillomavirus; Humans; Immunohistochemistry; Malignancy; Medical prognosis; Medicine; Medicine & Public Health; Mutation; Paranasal sinus; Paranasal Sinus Neoplasms - classification; Paranasal Sinus Neoplasms - diagnosis; Paranasal Sinus Neoplasms - genetics; Paranasal Sinus Neoplasms - pathology; Pathogenesis; Pathology; Review and Perspectives; Review and s; Salivary gland; Salivary glands; Soft tissues; Squamous cell carcinoma; Tumors; World Health Organization
• ISSN: 0945-6317; 1432-2307; 1432-2307
• DOI: 10.1007/s00428-024-03775-y

Classification of tumors of the head and neck has evolved in recent decades including a widespread application of molecular testing in tumors of the sinonasal tract, salivary glands, and soft tissues with a predilection for the head and neck. The availability of new molecular techniques has allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, an expanding spectrum of immunohistochemical markers specific to genetic alterations facilitates rapid identification of diagnostic molecular abnormalities. As such, it is currently possible for head and neck pathologists to benefit from a molecularly defined tumor classification while making diagnoses that are still based largely on histopathology and immunohistochemistry. This review covers the principal molecular alterations in sinonasal malignancies, such as alterations in DEK , AFF2 , NUTM1 , IDH1-2 , and SWI/SNF genes in particular, that are important from a practical standpoint for diagnosis, prognosis, and prediction of response to treatment.