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Molecularly defined sinonasal malignancies: an overview with focus on the current WHO classification and recently
Alena Skálová1,2, Abbas Agaimy3, Martina Bradova4,5
1Sikl's Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic. skalova@biopticka.cz.
Abstract:
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.
Insights
Molecular testing is revolutionizing head and neck tumor classification, identifying new tumor types and aiding diagnosis. Key genetic alterations in sinonasal malignancies guide prognosis and treatment selection.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Head and neck tumor classification has advanced with molecular testing.
- Novel tumor types unique to head and neck sites are being defined.
- Immunohistochemical markers aid in identifying genetic alterations.
Purpose of the Study:
- To review principal molecular alterations in sinonasal malignancies.
- To highlight practical implications for diagnosis, prognosis, and treatment.
- To emphasize the integration of molecular data into head and neck pathology.
Main Methods:
- Review of current literature on molecular alterations in head and neck tumors.
- Focus on genetic changes in sinonasal malignancies.
- Discussion of diagnostic and prognostic implications of molecular findings.
Main Results:
- Molecular techniques enable the definition of novel head and neck tumor types.
- Specific genes (DEK, AFF2, NUTM1, IDH1-2, SWI/SNF) are frequently altered in sinonasal malignancies.
- Molecular profiling aids in accurate diagnosis and treatment prediction.
Conclusions:
- Molecularly defined classification is crucial for head and neck tumors.
- Understanding key molecular alterations improves patient outcomes.
- Integration of molecular pathology enhances diagnostic accuracy in head and neck cancer.
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