Peutz-Jeghers综合征伴宫颈腺癌及神经内分泌癌一例并文献复习
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东南大学附属中大医院

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国家自然科学基金(No.8187101983,No.81801417)


Co-occurrence of cervical adenocarcinoma coupled with cervical neuroendocrine carcinoma in the context of Peutz–Jeghers syndrome: A Case Report and Literature Review
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东南大学附属中大医院

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    摘要:

    Peutz-Jeghers综合征(PJS)是一种常染色体显性遗传病,发病机制主要为 STK11/ LKB1 基因的失活,临床特点包括胃肠道的多发性息肉、皮肤黏膜的异常色素沉积和多种恶性肿瘤的患病风险明显增加。多种女性生殖系统的疾病与PJS相关,包括卵巢环状小管性索肿瘤、宫颈微小偏离型腺癌等,但宫颈腺癌合并小细胞神经内分泌癌很少被报道,本文报道一例Peutz-Jeghers综合征合并宫颈腺癌及小细胞神经内分泌癌,同时合并STK11/LKB1基因胚系突变,旨在帮助我们了解这种罕见疾病,并呼吁多学科关注Peutz-Jeghers综合征。

    Abstract:

    Peutz-jeghers syndrome (PJS) is an autosomal dominant genetic disease whose pathogenesis is mainly the inactivation of STK11/ LKB1 gene. Its clinical features include multiple polyps of the gastrointestinal tract, abnormal pigmentation of skin and mucous membrane, and significantly increased risk of various malignant tumors Several diseases of the female reproductive system have been associated with PJS, including annular tubule neoplasms of the ovary, microdeviated adenocarcinoma of the cervix. However, cervical adenocarcinoma combined with small cell neuroendocrine carcinoma has rarely been reported. Here, we report a case of Peutz-Jeghers syndrome manifested by cervical adenocarcinoma and small cell neuroendocrine carcinoma and combined with STK11/LKB1 gene germline mutation, aiming to help us understand this rare disease and call for multidisciplinary attention to Peutz-jeghers syndrome.

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  • 收稿日期:2022-10-29
  • 最后修改日期:2023-03-14
  • 录用日期:2023-07-09
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