Giant syringocystadenocarcinoma papilliferum with conjunctival recurrence: Possible Schimmelpenning syndrome with postzygotic G13R HRAS and K601N BRAF signature.

Autor: Dupont, Aurore, Vergara, Rémi, Pacaud, Alizé, Dequidt, Laure, Dutriaux, Caroline, Saunier, Valentine, Caumont, Charline, Jullie, Marie‐Laure, Taïeb, Alain, Morice‐Picard, Fanny, Dousset, Léa
Předmět:
Zdroj: Journal of the European Academy of Dermatology & Venereology; Dec2023, Vol. 37 Issue 12, pe1420-e1422, 3p
Abstrakt: This article discusses a rare case of a malignant sweat gland tumor called syringocystadenocarcinoma papilliferum (SCACP) with a conjunctival recurrence. The patient also had Schimmelpenning-Feuerstein-Mims (SFM) syndrome, which is characterized by the presence of sebaceous hamartoma (SH) and extracutaneous abnormalities. The patient received chemotherapy and chemoradiotherapy for the unresectable tumor, leading to a complete response. Molecular analysis revealed mutations in HRAS and BRAF genes, which may have contributed to the development and recurrence of the tumor. The article highlights the importance of exploring rare mutations for potential novel therapeutic approaches. [Extracted from the article]
Databáze: Complementary Index