Role of targeted sequencing in routine diagnostics of Spitz melanocytic neoplasms : an analysis of 70 cases

Šekoranja, Daja (avtor), Zupan, Andrej (avtor), Matjašič, Alenka (avtor), Boštjančič, Emanuela (avtor), Calonje, Eduardo (avtor), Pižem, Jože (avtor)

Background: There is growing evidence that the Spitz group of melanocytic neoplasms should be restricted to those harboring kinase receptor fusions and HRAS mutations/11p15 amplification. The presence of genomic alterations characteristic of conventional melanomas (BRAF and NRAS mutations) precludes a diagnosis of a Spitz neoplasm. It is often challenging to distinguish Spitz neoplasms from conventional melanomas with spitzoid morphology on histopathological grounds alone. Methods: We report a series of 70 consecutive melanocytic tumors in which targeted sequencing was indicated to distinguish Spitz from spitzoid neoplasms and to classify Spitz neoplasms along the biological spectrum. Results: Final diagnoses incorporating molecular results included 12 conventional melanomas (nine of which with NRAS mutations), five Spitz melanomas, 35 atypical Spitz tumors, eight Spitz nevi, three melanocytic tumors with a MAP2K1 mutation, and seven desmoplastic Spitz nevi/tumors. There were significant discrepancies between initial diagnoses and final diagnoses after incorporating molecular results in 24 (34%) cases, including nine conventional melanomas favored to be Spitz neoplasms and nine Spitz neoplasms favored to be conventional melanomas. Conclusions: It is often not possible to reliably distinguish Spitz neoplasms from spitzoid melanocytic tumors without identifying their driver genomic alterations. Applying next-generation sequencing in diagnostically problematic tumors improves diagnostic accuracy.

• Jezik: Angleški jezik
• Ključne besede: MAP2K1, Spitz nevus, atypical Spitz tumor, malignant Spitz tumor, spitzoid
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2025
• Št. strani: Str. 141–153
• Številčenje: Vol. 52, iss. 2
• PID: 20.500.12556/RUL-166378
• UDK: 616-006
• ISSN pri članku: 0303-6987
• DOI: 10.1111/cup.14750
• COBISS.SI-ID: 215889411
• Datum objave v RUL: 09.01.2025

Gradivo je del revije

• Naslov: Journal of cutaneous pathology
• Skrajšan naslov: J. cutan. pathol.
• Založnik: Wiley
• ISSN: 0303-6987
• COBISS.SI-ID: 714773

Licence

• Licenca: CC BY-NC 4.0, Creative Commons Priznanje avtorstva-Nekomercialno 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc/4.0/deed.sl
• Opis: Licenca Creative Commons, ki prepoveduje komercialno uporabo, vendar uporabniki ne rabijo upravljati materialnih avtorskih pravic na izpeljanih delih z enako licenco.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: atipični Spitzov tumor, maligni Spitzov tumor, špicoid

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije