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Multiple ependymomas in a patient with Turcot's syndrome
C F Torres1, D N Korones, W Pilcher
1Department of Neurology, University of Rochester School of Medicine and Dentistry, New York, USA.
Medical and Pediatric Oncology
|January 1, 1997
Summary
Turcot's syndrome (TS) is a rare genetic disorder. This case study details a patient with multiple ependymomas, a rare occurrence in TS, who achieved long-term remission.
Area of Science:
- Neuro-oncology
- Gastroenterology
- Genetics
Background:
- Turcot's syndrome (TS) is an autosomal recessive disorder characterized by the association of brain tumors and colorectal cancer.
- Germline mutations in the adenomatous polyposis coli (APC) gene or mismatch repair (MMR) genes are associated with TS.
- Colorectal polyposis and cancer are hallmarks of TS, often necessitating colectomies.
Observation:
- A 21-year-old female diagnosed with TS at 16 presented with two ependymomas: one in the left middle cerebellar peduncle and another in the sacral spinal canal.
- Family history revealed colonic polyposis and cancer in multiple relatives, consistent with TS.
- The patient exhibited retinal hyperpigmentation and skull osteomas, alongside normal neurological examinations, bone scans, and CSF analysis.
Findings:
- A germline mutation in segment 3 of the adenomatous polyposis coli (APC) gene was identified.
- The patient underwent partial resection of ependymomas, followed by radiation and chemotherapy.
- Post-surgery, paraspinal desmoid tumors were diagnosed and removed; the patient remained central nervous system tumor-free for 42 months.
Implications:
- The occurrence of multiple ependymomas in Turcot's syndrome is unprecedented in reported literature.
- This case suggests that aggressive management, including surgery and adjuvant therapy, can lead to long-term survival in TS patients with glial tumors.
- The findings contribute to understanding the diverse neurological manifestations of TS and the potential for managing complex cases.