Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy
| Autor: | Bahar Dasgeb, Youssefian Leila, Amir Hossein Saeidian, Jun Kang, Wenyin Shi, Elizabeth Shoenberg, Adam Ertel, Paolo Fortina, Hassan Vahidnezhad, Jouni Uitto |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | International Journal of Dermatology and Venerology, Vol 4, Iss 2, Pp 70-75 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2096-5540 2641-8746 00000000 |
| DOI: | 10.1097/JD9.0000000000000170 |
| Popis: | Abstract. Objective:. Well-defined germ-line mutations in the PTCH1 gene are associated with syndromic multiple basal cell carcinomas (BCCs). Here, we used whole exome sequencing (WES) to identify the role of patched-1 in patients with multiple, unusually large BCCs. Methods:. A 72-year old patient presenting with numerous BCCs progressing to large ulcerating lesions was enrolled. WES was used to identify the pathogenic gene locus. Results:. Genetic work-up by WES identified a homozygous PTCH1 nonsense mutation in the tumor tissue but not present in her blood cells or in non-lesional skin. In addition, heterozygous missense mutations were identified in three cancer-associated genes (EPHB2, RET, and GALNT12) in blood cells as well as in lesional and non-lesional skin. We also tested systemic immune therapy as a potentially beneficial approach to treat patients with numerous large BCCs on scatted areas of involvement. A rapid and sustained response to nivolumab was noted, suggesting that it is an efficacious drug for long-term therapeutic outcome. Conclusion:. PTCH1, EPHB2, RET, and GALNT12 may potentially contribute to the synergistic oncogene driven malignant transformation manifesting as multiple, unusually large BCCs. |
| Databáze: | Directory of Open Access Journals |
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