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戈林-戈尔茨综合征患者腮腺转移性基底细胞癌的成功放疗

Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome.

作者信息

Neaga Stefan, Beiu Cristina, Popa Liliana G, Orlov Slavu Cristina M, Anghel Andrei W

机构信息

Dermatology, Elias Emergency University Hospital, Bucharest, ROU.

Oncologic Dermatology, Elias Emergency University Hospital, Carol Davila University of Medicine and Pharmacy, Bucharest, ROU.

出版信息

Cureus. 2024 Aug 18;16(8):e67152. doi: 10.7759/cureus.67152. eCollection 2024 Aug.

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.

摘要

戈林-戈尔茨综合征(GGS),也称为痣样基底细胞癌综合征(NBCCS),是一种常染色体显性疾病,其特征是易患多发性基底细胞癌(BCC)和其他肿瘤,通常与PTCH1或SUFU肿瘤抑制基因的致病性变异有关。然而,由于该综合征的基因表达可变,缺乏这些基因标记并不能排除诊断。诊断依赖于一套既定的主要和次要标准,特别是当基因检测未能识别出典型的致病性变异时。GGS的主要临床表现是多发性BCC的发生。虽然这些肿瘤通常生长缓慢且局限,但在GGS患者中可能表现出更具侵袭性的行为,包括局部侵袭性和转移潜能。此外,GGS患者对电离辐射高度敏感,由于有诱发额外BCC的风险,导致放射治疗(RT)存在一般禁忌。尽管存在这些问题,但我们报告了一例病例,其中RT是一名GGS患者腮腺转移的不可切除BCC的唯一可行治疗方法。RT的成功使用导致治愈且无不良反应,表明RT可能是一些GGS患者的可行选择,反映了辐射敏感性的个体差异。该病例强调了个性化治疗计划在管理GGS复杂表现中的重要性,挑战了这些患者使用RT的传统限制,并表明在特定情况下重新考虑其使用的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4692/11408743/f3ecf58e1e0e/cureus-0016-00000067152-i01.jpg

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