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The patient, a 1967-born male with no prior history of gastrointestinal disease, visited the Gastroenterology Department due to epigastric pain and nausea. Initial tests revealed mild anemia (Hb 10.9g/dL), a positive fecal occult blood test (FOBT), elevated CEA (49.5 U/mL), and a slightly increased CA 72-4 level.

Suspecting gastrointestinal lesions, precancerous or cancerous conditions, Assoc. Prof. Dr. Nguyen Quang Duat from the Department of Gastroenterology and Hepatology ordered an upper and lower GI endoscopy for further evaluation. The gastroscopy showed grade A gastroesophageal reflux, erosive gastritis, and a positive H. pylori infection. Notably, two pedunculated polyps measuring 30x35mm were found in the transverse colon.

The polyps were removed using a snare technique, with four clips applied for hemostasis and wound protection. The entire polyps were sent for histopathological examination. The results confirmed moderately differentiated adenocarcinoma arising from a Peutz-Jeghers polyp, without vascular or neural invasion, corresponding to Haggitt levels 3–4.��

Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of hamartomatous polyps in the gastrointestinal tract and distinctive pigmented spots around the lips, inside the mouth, on the hands, feet, and eyelids. These polyps most commonly develop in the small intestine but can also be found in the colon and stomach. They may cause various gastrointestinal symptoms such as cramping abdominal pain, diarrhea, constipation, gastro-intestinal bleeding leading to anemia, or even intussusception due to disrupted bowel motility.

Individuals with this syndrome have an elevated lifetime risk of developing multiple types of cancer, including colorectal, gastric, pancreatic, breast, testicular, ovarian, lung, and others. Without appropriate monitoring and early detection, the lifetime cancer risk in Peutz-Jeghers patients can be as high as 93%.

Cases where colorectal cancer arises on the background of a rare hereditary syndrome like Peutz-Jeghers require particularly accurate diagnosis and early intervention to improve treatment outcomes and patient prognosis.

After diagnosing malignant polyps in the context of Peutz-Jeghers syndrome, a multidisciplinary consultation was held, and the patient underwent surgery to re-sect the affected colon segment. Postoperative pathology revealed no residual adenocarcinoma in the resected colon specimen, and all three regional lymph nodes were free of metastasis. This indicates a curative surgical outcome, offering the patient a high chance of successful treatment and reduced risk of recurrence.

Importantly, the patient’s family members were also advised and screened. His two sons underwent gastroscopy and colonoscopy, during which colonic polyps were found and removed. Fortunately, histopathological analysis showed no dysplasia or malignancy.

Assoc. Prof. Dr. Nguyen Quang Duat emphasized: “Patients with Peutz-Jeghers syndrome should undergo regular health checkups and close monitoring to detect any new lesions or malignant transformations early. Family members also need genetic counseling and screening, as this is an inherited disorder that may affect future generations.”

Currently in Vietnam, stool-based testing for gene mutations linked to Peutz-Jeghers syndrome is available using the eColon technique, which detects methylation changes in the SDC2 and TFPI2 genes. This helps effectively screen high-risk individuals within affected families. Combining endoscopic screening with stool testing brings significant benefits in early detection and effective management of the disease.

For consultations or appointments with our gastroenterology specialists, or to learn more about cancer screening packages, please contact our HOTLINE at 024.35771100, message us on our Facebook page "�����ƽ��," or Zalo OA at zalo.me/2008009049335817955.