The molecular cartography of malignant and benign sebaceous tumours
(2026) Nature Communications — Vol. 17, n° 1, p. 14 [1-18] (2026)
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- Abstract
- Sebaceous tumours (STs) are rare skin appendage tumours and include benign sebaceous adenoma (SA) and sebaceoma (SM), malignant extra-ocular sebaceous carcinoma (SC-E) and peri-ocular sebaceous carcinoma (SC-O). Here, an extensive worldwide collection of 286 tumours is deeply characterised, revealing a propensity to develop in the context of a high tumour mutational burden (except in SC-O) which is most frequently associated with mismatch repair deficiency (dMMR), followed by UV-induced damage, POLE/POLD1 mutations, and AID/APOBEC activation signatures. Biallelic TP53 inactivation with concomitant ZNF750 and/or RB1 mutation is seen in SC-E/SC-O. Amplification of 8q (including MYC) is related to SC-O, while amplification of 1q21.3 (including HRNR) and chromosome 20 are shared by SC-O and SC-E, as is deletion of 13q14.3 (where RB1 resides). The most frequently mutated gene is NOTCH1. Extensive fusion gene, expression and molecular cluster analyses provide a molecular portrait of this rare and enigmatic tumour type. © The Author(s) 2025.
- Affiliations
Wellcome Sanger Institute Experimental Cancer Genetics
Citations
Ferreira de Castro Moutinho, I., Rueda, O. M., van der Weyden, L., Sahni, S., Cast, O., Wong, K., Del Castillo Velasco-Herrera, M., Caldwell, H., Boccacino, J. M., Alegbe, T., Mehta, I., Gunjur, A., Gupta, P., Harle, V., Koga, K., Matzusaki, I., Fujimoto, M., Wiedemeyer, K., Stratigos, A., et al. (2026). The molecular cartography of malignant and benign sebaceous tumours. Nature Communications, 17(1), 14 [1-18]. https://doi.org/10.1038/s41467-025-66584-0 (Original work published 2026)