Female pathological tumors are easily misdiagnosed and missed in clinical practice. Especially in patients with Peutz-Jeghers syndrome (PJS) who often have a variety of rare types of gynecological tumors. We reported a patient with a case of PJS with a lower abdominal mass as the clinical manifestation. Physical and auxiliary examinations showed a large pelvic and abdominal mass. According to the patient's PJS history, gastric adenocarcinoma (GAC) was diagnosed after timely cervical biopsy. The patient underwent abdominal and pelvic mass resection and extensive hysterectomy. The tumor extensively disseminated to the bilateral ovaries, endometrium, fallopian tubes and pelvis. The cyclin-dependent kinase inhibitor 2A gene mutation was demonstrated in cervical GAC samples using next-generation sequencing. We summarized the literature on PJS accompanied by GAC with metastases to bilateral ovaries and analyzed the clinical characteristics of female patients with PJS combined with multiple gynecological tumors. Being aware of the PJS history of the patient is helpful for the standardized diagnosis and treatment of PJS-related gynecological tumors.
Keywords: CDKN2A; Peutz-Jeghers syndrome; STK11; cervical gastric-type adenocarcinoma; extensive metastases; next generation sequencing.
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