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  • Title: Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome.
    Author: Neaga S, Beiu C, Popa LG, Orlov Slavu CM, Anghel AW.
    Journal: Cureus; 2024 Aug; 16(8):e67152. PubMed ID: 39295706.
    Abstract:
    Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant condition characterized by a predisposition to multiple basal cell carcinomas (BCCs) and other neoplasms and is commonly associated with pathogenic variants in the PTCH1 or SUFU tumor suppressor genes. However, the absence of these genetic markers does not preclude the diagnosis due to the variable genetic expression of the syndrome. Diagnosis relies on a set of established major and minor criteria, particularly when genetic testing fails to identify the typical pathogenic variants. The primary clinical manifestation of GGS is the development of multiple BCCs. While these typically exhibit slow growth and remain localized, they can manifest more aggressive behavior in individuals with GGS, including local invasiveness and metastatic potential. Moreover, patients with GGS display heightened sensitivity to ionizing radiation, leading to general contraindications for radiation therapy (RT) due to the risk of inducing additional BCCs. Despite these concerns, we report a case where RT was the only feasible treatment for an inoperable BCC that had metastasized to the parotid gland in a GGS patient. The successful use of RT, which resulted in a cure without adverse effects, illustrates that RT may be a viable option for some GGS patients, reflecting individual variability in radiation sensitivity. This case underscores the importance of personalized treatment plans in managing the complex presentations of GGS, challenging the traditional constraints regarding the use of RT in these patients and suggesting the potential for its reconsideration under specific circumstances.
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