病例报告:Goltz-Gorlin综合征中的乳头甲状腺癌
Flavia Costanza1, Giampaolo Papi1,2, Stefania Corrado3
1Endocrinology, Diabetology and Internal Medicine Unit, Catholic University of the Sacred Heart, Rome, Italy.
Frontiers in endocrinology
|October 20, 2023
概括
戈尔茨-戈林综合征 (GGS) 是一种罕见的遗传疾病,与PORCN基因变异有关. 本病例报告详细介绍了GGS患者的第一个乳头甲状腺癌 (PTC) 病例,表明该基因与瘤易感性之间的潜在联系.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 内分泌学 在内分泌学.
背景情况:
- 戈尔茨-戈林综合征 (GGS) 或焦皮肤缺血症是一种罕见的X相关性疾病.
- 它是由PORCN基因的致病变体引起的,导致各种异常.
- 约有300个GGS病例被记录在案,这突显了它的罕见性.
研究的目的:
- 在患有GGS的患者中报告第一个乳头甲状腺癌 (PTC) 病例.
- 研究PORCN基因变异在瘤易感性中的潜在作用.
- 审查GGS临床发现,并讨论潜在的病原遗传机制.
主要方法:
- 一个16岁女性患有GGS的案例介绍.
- 诊断工作包括甲状腺超声波和细针吸收活检.
- 手术干预 (甲状腺切除和淋巴切除) 随后进行组织学检查和放射性治疗.
主要成果:
- 该患者被诊断患有GGS,随后发展为乳头甲状腺癌 (PTC).
- 组织学检查证实了PTC与淋巴结微转移.
- 患者在治疗后3个月和6个月的随访中没有出现复发.
结论:
- 这是Goltz-Gorlin综合征患者中第一次报告PTC病例.
- 病原性PORCN变异可能会导致对甲状腺癌的易感性.
- 需要进一步的研究来阐明将GGS与瘤发生联系起来的病原遗传机制.
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