背景:Peutz-Jeghers综合征(PJS)的特征是胃肠道中存在错构瘤性息肉和嘴唇上的粘膜皮肤色素沉着,口腔粘膜,鼻子,手指,和脚趾。女性生殖道的同步粘液性化生和瘤形成(SMMN-FGT)是指在至少两个部位发生多灶性粘液性病变,包括子宫颈,子宫,输卵管,和卵巢,在女性生殖道。SMMN-FGT和PJS是发病率非常低的罕见疾病,尤其是同时发生的时候。
方法:我们报告了一个病例,其中一名左卵巢有较大肿块的妇女接受了妇科手术,被诊断为宫颈胃型腺癌和子宫内膜粘液性病变,双侧输卵管,和卵巢,即,SMMN-FGT,通过术后石蜡病理学检查。患者因腹胀和增大而求医。妇科超声显示骨盆有多房性囊性肿块,而血清肿瘤标志物在正常范围内,碳水化合物抗原199和碳水化合物抗原125水平轻度升高。宫颈薄层细胞学检查结果为阴性。患者有PJS家族史,皮肤和粘膜有黑点,年龄8岁。由于肠梗阻和肠套叠,她接受了多次部分小肠切除术和胃肠道息肉切除术。她接受了左附件切除术,子宫切除术,右输卵管切除术,大网膜切除,阑尾切除术和右卵巢活检,并接受了6个疗程的洛普加卡铂辅助化疗。基因检测显示丝氨酸苏氨酸激酶11种系杂合突变,治疗后18个月随访期间无复发迹象。
结论:这是一种罕见的病例,其中PJS并发SMMN-FGT。由于其极端稀有,没有指导方针,但报道的病例似乎表明预后不良。我们回顾性回顾了所有PJS和SMMN-FGT之间的碰撞病例,并探讨了临床特征,病理特征,诊断,治疗方法,两种疾病并存时的预后。目的是加深临床医生对这种疾病的认识,以便早期发现,诊断和治疗。
BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation on the lips, oral mucosa, nose, fingers, and toes. Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT) refers to the occurrence of multifocal mucinous lesions in at least two sites, including the cervix, uterus, fallopian tubes, and ovaries, in the female genital tract. SMMN-FGT and PJS are rare diseases with a very low incidence, especially when occurring simultaneously.
METHODS: We report a case in which a woman with a large mass on the left ovary underwent a gynecological surgery and was diagnosed with cervical gastric-type adenocarcinoma and mucinous lesions in the endometrium, bilateral fallopian tubes, and ovary, i.e., SMMN-FGT, by postoperative paraffin pathology. The patient sought medical attention for abdominal distension and enlargement. A gynecological ultrasound revealed a multilocular cystic mass in the pelvis, while serum tumor markers were within normal limits, with mildly elevated carbohydrate antigen 199 and carbohydrate antigen 125 levels. Cervical thin-prep cytology test result was negative. The patient had a family history of PJS with black spots on her skin and mucous membranes since the age of 8 years. She underwent multiple partial small bowel resections and gastrointestinal polypectomy owing to intestinal obstruction and intussusception. She underwent left adnexectomy, hysterectomy, right salpingectomy, greater omental resection, appendectomy and right ovary biopsy, and received six courses of adjuvant chemotherapy with Lopressor plus Carboplatin. Genetic testing revealed a heterozygous serine threonine kinase 11 germline mutation and there were no signs of recurrence during the 18-month follow-up period after treatment.
CONCLUSIONS: This is a rare case in which PJS was complicated by SMMN-FGT. Owing to its extreme rarity, there are no guidelines, but reported cases appear to indicate a poor prognosis. We retrospectively reviewed all cases of collisions between PJS and SMMN-FGT and explored the clinical features, pathological characteristics, diagnosis, treatment methods, and prognosis when the two diseases coexisted. The aim is to deepen the clinicians\' understanding of this disease for early detection, diagnosis and treatment.