IllnessEpendymoma, differential diagnosis

NGS +

Ependymomas are glial tumors. They can occur intracranially (supratentorial or infratentorial) or spinal. They occur more frequently in children than in adults. In 6-15% of cases, the tumors have already metastasized liquorgenically at the time of new diagnosis. Depending on their degree of differentiation, they are divided into low-grade malignant ependymomas (WHO grade I and II) and high-grade, malignant, so-called anaplastic ependymomas (WHO grade III). The histopathological classification alone does not allow for consistent and reliable survival prognoses in retrospective studies. Ependymomas with similar histological grades can take a very different clinical course.

The prognosis of ependymomas depends largely on molecular classification, resectability and the degree of dissemination. With complete resection and postoperative radiotherapy, recurrence-free 5-year survival rates of 50-75% are achieved. A variety of complications can occur in patients who have survived long-term, such as neurological deficits, cognitive impairment, sensory hearing loss and secondary malignancies.

No clear etiology has yet been established for most ependymomas.

Pathogenic variants in e.g. YAP1 or NF2 can be detected somatically.

Only a few familial ependymomas are known. Patients with neurofibromatosis type 2 have an increased incidence of spinal intramedullary ependymomas. Ependymomas have also been reported in patients with Li-Fraumeni syndrome (pathogenic changes in the tumor suppressor gene TP53).

If ependymomas or other tumors occur frequently in a family, genetic counseling should be offered.

(according to Hofmann et al, Pediatrics. 2020; S2300-2301, according to StatPearls https://www.ncbi.nlm.nih.gov/books/NBK538244/; YAO et al. Clin J Cancer. 2011; 30(10):669-681), PMID: 21959044)

• Allelic: Autoinflammatory disease, familial, Behcet-like-3 (RELA)
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Noonan syndrome 10 (LZTR1)
• Allelic: Noonan syndrome 2 (LZTR1)
• Allelic: Osteosarcoma (TP53)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Allelic: Watson syndrome (NF1)
• Allelic:: Meningioma, NF2-related, somatic (NF2)
• Allelic:: Schwannomatosis, somatic (NF2)
• Allelic:: Schwannomatosis, vestibular (NF2)
• Glioma susceptibility 1 (TP53)
• Neurofibromatosis, type 1 (NF1)