一例 Peutz-Jeghers 综合征合并乳腺癌、双侧性索肿瘤伴环形小管和 STK11 基因突变引起的恶性腺瘤。
A case of Peutz-Jeghers syndrome with breast cancer, bilateral sex cord tumor with annular tubules, and adenoma malignum caused by STK11 gene mutation.
机构信息
Program in Women's Oncology, Department of Obstetrics and Gynecology, Women and Infants Hospital, Brown University, Providence, RI, USA.
出版信息
Int J Gynecol Cancer. 2009 Dec;19(9):1591-4. doi: 10.1111/IGC.0b013e3181ae3f71.
BACKGROUND
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and women with this syndrome are at an increased risk of developing intestinal and extraintestinal malignancies including breast and gynecologic malignancies. This case report presents a patient with PJS with a concomitant breast cancer, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.
CASE
A 43-year-old woman presented with an advanced-stage breast cancer and a pelvic mass. The patient was treated with neoadjuvant chemotherapy followed by laparotomy with a hysterectomy and oophorectomy. Final pathologic examination revealed a concomitant breast cancer with metastasis to the ovaries, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.
CONCLUSIONS
Patients with PJS are at a high risk for intestinal and extraintestinal malignancies and can present with multiple concomitant malignancies.
背景
Peutz-Jeghers 综合征（PJS）是一种罕见的常染色体显性遗传疾病，患有该综合征的女性患肠道和肠道外恶性肿瘤的风险增加，包括乳腺癌和妇科恶性肿瘤。本病例报告介绍了一例 PJS 患者，同时患有乳腺癌、双侧卵巢环形管状间质瘤和宫颈恶性腺瘤。
病例
一名 43 岁女性因晚期乳腺癌和盆腔肿块就诊。患者接受了新辅助化疗，随后行剖腹手术，包括子宫切除术和卵巢切除术。最终病理检查显示同时患有乳腺癌伴卵巢转移、双侧卵巢环形管状间质瘤和宫颈恶性腺瘤。
结论
PJS 患者患肠道和肠道外恶性肿瘤的风险较高，可同时患有多种恶性肿瘤。
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