Familial intestinal tumor with multiple tumor syndrome was proposed by Turcot in 1959, hence it is also called Turcot syndrome. The characteristic of this disease is the presence of familial intestinal tumors accompanied by tumors in other parts of the body. It is often associated with central nervous system tumors, such as neuroepithelial tumors, glioblastomas, also known as glioma polyp syndrome. Clinically, it is very rare and is an autosomal recessive genetic disorder.

bubble_chart Etiology

The colonic adenomatous changes in this disease are similar to familial polyposis, but they are mostly multiple large papillary adenomas, sparsely distributed in the intestine. In some patients, only a few adenomas are clustered in a specific segment of the intestine, rather than being uniformly dense. Additionally, this condition is often associated with central nervous system tumors, such as gliomas and medulloblastomas, as well as tumors in other locations, including thyroid adenomas, duodenal and small intestinal adenomas, hamartomas, and carcinoids. This disease has a high potential for malignant transformation.

bubble_chart Clinical Manifestations

Before malignant transformation, the clinical manifestations of this disease are similar to familial polyp disease, presenting with intermittent abdominal pain, abdominal discomfort, diarrhea, bloody stools, hematochezia, weight loss, malnutrition, and anemia. Intestinal obstruction may occur due to hyperplasia. Symptoms associated with central nervous system tumors are often prominent, such as headache, dizziness, nausea, vomiting, visual disturbances, and limb movement disorders. Patients often die from brain tumors before malignant transformation occurs.

The diagnosis of this disease relies on a family history of familial colonic adenomatous diseases and the clinical features of the aforementioned colonic and cranial lesions. Double-contrast colonography and fiberoptic colonoscopy help determine the size and extent of colonic lesions and the presence of malignancy. CT and MRI examinations aid in the diagnosis of brain tumors.

bubble_chart Treatment Measures

Since colon adenomas are prone to malignant transformation, active surgical treatment should be pursued after diagnosis, which may involve resection of the entire colon and rectum or preservation of the rectum with removal of the entire colon. The treatment principles for associated tumors are generally the same as for those without adenomas. Due to the multifocal nature of this disease, surgical outcomes are relatively poor. For cases with malignant transformation, radiotherapy or chemotherapy may be attempted, but the efficacy remains uncertain.