Published online Jan 26, 2020. doi: 10.12998/wjcc.v8.i2.264
Peer-review started: November 11, 2019
First decision: November 22, 2019
Revised: December 15, 2019
Accepted: January 1, 2020
Article in press: January 1, 2020
Published online: January 26, 2020
Processing time: 67 Days and 0.4 Hours
Peutz-Jeghers syndrome (PJS) is a rare inherited disease, which can result in gastrointestinal and other organs malignant tumors. However, we do not have consistent diagnosis, treatment, and follow-up plans.
The research motivation is that many scholars do not realize the risk of PJS associated malignancy. Meanwhile, there are also disputes about diagnosing and treating for PJS.
Through evaluating the clinical symptoms, diagnosis, and treatment, we aimed to present our methods for treating malignant change secondary to PJS.
We reviewed 46 PJS patients from 2014 to 2017. Among these patients, five developed malignant tumors. Hence, we collected their clinical, imaging, and pathological data for further analysis. In addition, we followed these five patients after they were discharged from hospital.
The PJS patients were first diagnosed with malignant tumor at about 43.6 years old. Among them, three patients received operations and pathology confirmed adenocarcinoma. One patient underwent genetic testing, which showed an STK11 mutation. Three patients received XELOX chemotherapy, while one patient die from tumor progression after 6 months. The other two patients received endoscopic resection; postoperative pathology confirmed high grade intraepithelial neoplasia. The surviving patients had no recurrence.
If PJS patients are suspected to have secondary malignant changes, endoscopy and imageological examination are often needed to evaluate the tumor. For patients suited for endoscopic resection, we can perform the ESD. Otherwise, radical operation should be considered. After surgery, we need to conduct pathological examination and gene detection. For advanced tumor, patients need to receive adjuvant chemotherapy. Meanwhile, we also need to pay attention to the prevention in PJS patients.
PJS patients do not always have typical symptoms. Compared with common people, they have higher tumor susceptibility. Therefore, they need to regularly check-up the body and take measures to prevent associated tumor complications and improve prognosis.