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<p>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&#xa0;high tumour mutational burden&#xa0;(except in SC-O) which is&#xa0;most frequently associated with mismatch repair deficiency (dMMR), followed by UV-induced damage, <i>POLE/POLD1</i> mutations, and AID/APOBEC activation signatures. Biallelic <i>TP53</i> inactivation with concomitant <i>ZNF750</i> and/or <i>RB1</i> mutation is seen in SC-E/SC-O. Amplification of 8q (including <i>MYC</i>) is related to SC-O, while amplification of 1q21.3 (including <i>HRNR</i>) and chromosome 20 are shared by SC-O and SC-E, as is deletion of 13q14.3 (where <i>RB1</i> resides). The most frequently mutated gene is <i>NOTCH1</i>. Extensive fusion gene, expression and molecular cluster analyses provide a molecular portrait of this rare and enigmatic tumour type.</p>

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The molecular cartography of malignant and benign sebaceous tumours

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月19日

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  • I. Ferreira,
  • O. M. Rueda,
  • L. van der Weyden,
  • S. Sahni,
  • O. Cast,
  • K. Wong,
  • M. Del Castillo Velasco-Herrera,
  • H. Caldwell,
  • J. M. Boccacino,
  • T. Alegbe,
  • I. Mehta,
  • A. Gunjur,
  • P. Gupta,
  • V. Harle,
  • K. Koga,
  • I. Matzusaki,
  • M. Fujimoto,
  • K. Wiedemeyer,
  • A. Stratigos,
  • A. Oniscu,
  • K. Wang,
  • E. Ruppin,
  • P. Demetter,
  • I. M. Frayling,
  • M. J. Arends,
  • T. Brenn,
  • D. J. Adams

摘要

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.