Published online Mar 27, 2023. doi: 10.4240/wjgs.v15.i3.480
Peer-review started: November 22, 2022
First decision: January 11, 2023
Revised: January 31, 2023
Accepted: March 3, 2023
Article in press: March 3, 2023
Published online: March 27, 2023
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and female patients may develop gynecologic tumours. The prognosis for such patients is poor and the specific pathogenesis remains uncertain. Therefore, there are currently no uniform treatment options.
Herein, we introduce the case of a 45-year-old female who was diagnosed with PJS for 45 years and cervical cancer for 3 years. Postoperative pathological examination showed metastases in the right external iliac lymph nodes. The patient was initially treated with a combination of doxorubicin and carboplatin chemotherapy and pelvic magnetic resonance showed that the metastases had grown. Subsequently, we performed whole exome sequencing in this patient and identified the relevant causative gene. In addition to the chemotherapy regimen, sindilizumab was administered and the patient was followed up. After 4 cycles of treatment, the metastases were substantially reduced and were not enlarged after six months of follow-up. This case report suggests that patients with PJS combined with cervical cancer may have a sustained response to immune-combination chemotherapy regimens.
Clinicians should be aware of the importance of immunotherapy in patients with PJS combined with advanced cervical cancer.
Core Tip: Peutz-Jeghers syndrome (PJS) is a rare genetic disease with cancerous potential. In this case, the patient was diagnosed with PJS combined with progressive cervical cancer and she initially received doxorubicin and carboplatin; however, the right parietal iliac vessel metastases did not shrink. This case suggests that the use of programmed cell death protein 1 (PD-1) inhibitors was helpful in this patient and that PD-1 inhibitors combined with chemotherapy may be a good choice for treating this disease.