Possible Considerations for the Management of Turcot’s Syndrome?

Background: Turcot’s syndrome (TS) is a rare disease with known incidence of about 1-2 cases per year. It is, however, linked to high mortality due to the brain cancer. And because of this, we propose recommendations, aimed at preventing the mortality of the patients and to minimize the risk of undiagnosed Turcot’s syndrome. Methods: The authors collected the worldwide published data on TS, from the year of its definition till 2018, all of which was published on the search engines, such as Medline, Medknow, Cohraine and Wiley. Results: We included 97 patients, 57 from which are females and 40 males with median age of 22 years. The most common type of cancer is medulloblastoma, followed by glioblastoma and astrocytoma. We further divided the patients into two categories based on the first symptom of the disease and we made an algorithm of approaching these patients. Conclusion: TS is a disease that affects mostly members of families with multiple genetic mutations and types of cancers. And because of the unknown mechanisms of inheritance, it is useful to establish guidelines for the approach of those patients, in order to minimize the high mortality rate.

The rare case of a combination two brain tumors with total colon polyposis

Objectives of publication: Presentation of a rare clinical observation from our own practice. Key points: The combination of brain tumors and colon polyposis often described in the literature as a syndrome Turcot. Turcot's syndrome is a genetic disease with different clinical manifestations. This is a rare syndrome (a little more than 150 cases are described), and therefore, the standardization of approaches to diagnosis and treatment is not currently defined. We present the clinical case of manifestations of the Turcot’s syndrome of our practice. Сlinical observation: Male patients, from birth to the skin marked multiple cafe-au-lait spots. At age 14 years, according to a magnetic resonance imaging multiple brain tumors are revealed, two different histologically tumor brains (one of which is benign (pilocytic astrocytoma), the other is malignant (anaplastic ependymoma)) and total colon adenomatous polyposis were diagnosed. Currently, syndromic pathology is not verified. Receives one of polychemotherapy protocols for treating tumors of the central nervous system. It is planned to conduct additional studies aimed at clarifying the genetic defect, with a view to a possible optimization of the therapy (modification of the plane of polychemotherapy, use of an option of radiation therapy, use of a target therapy). Conclusions: The results of a comprehensive survey of the use of modern techniques of molecular biology and cytogenetics affect the prognosis of the disease and treatment strategy.

Familial Adenomatous Polyposis and Benign Intracranial Tumors: A New Variant of Gardner's Syndrome

Introduction:Familial adenomatous polyposis (FAP) is associated with malignant tumors of the central nervous system, predominantly medulloblastomas and glioblastoma multiforme (Turcot's syndrome) and with craniofacial osteomas (Gardner's syndrome). This report details the occurrence of benign, intracranial tumors in two related individuals with Gardner's syndrome, an asso ciation not previously described.Patients and Methods:A 57-year-old woman (the propositus), her sister, two of her nieces and one of her grandnephews were previously diagnosed with Gardner's syndrome. The propositus came to neurosurgical attention because of vertigo associated with what proved to be an epidermoid cyst of the cerebellopontine angle. Her unaffected children and her relatives with Gardner's syndrome were examined and underwent computed tomography or magnetic resonance imaging.Results:A 39-year-old woman with Gardner's syndrome, the niece of the propositus, was found to harbor an asymptomatic left frontal meningioma.Discussion:Familial adenomatous polyposis, Gardner's syndrome, and that variant of Turcot's syndrome in which medulloblastoma predominate, are associated with a mutation of the adenomatous polyposis coli gene. The demonstration that patients with Gardner's syndrome can also have benign, nonneuroglial, intracranial tumors adds to the previously known extracolonic lesions associated with FAP. The molecular characterization of our patients should reveal if benign intracranial tumors represent a pleiotropic manifestation of the adenomatous polyposis coli gene mutation or if other genes are implicated.