Figure - available from: Child's Nervous System
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Imaging of diffuse peritoneal carcinomatosis (a) at diagnosis (main disease burden circled in dotted red) and (b) after near gross total resection of lesions
Source publication
Background
Although recurrent anaplastic ependymoma in pediatric patients is not uncommon, recurrent disease leading to widespread metastases to the peritoneum is extremely rare.Case ReportWe present a case of an 18-month old male who initially presented with posterior fossa anaplastic ependymoma, who then proceeded to present 1 year later with spi...
Citations
... Among these, PFA ependymoma, characterized by lack of trimethylation of histone H3 at lysine 27 (H3 K27-me3) and elevated chromosome X open reading frame 67 (CXorf67) expression, is the commonest and aggressive form (2,3). Previous studies revealed that PFA ependymoma comprises ependymal cells with poor differentiation and active mitosis; therefore, the tumors have frequent local relapses and might metastasize to distant brain and spinal canal areas through the cerebrospinal fluid (1). However, extraneural metastasis of pediatric ependymoma is rare (4)(5)(6). ...
Ependymoma is the third most common pediatric primary brain tumor, with its most aggressive subtype being posterior fossa group A (PFA). Extraneural metastasis of pediatric PFA ependymoma is rare. Herein, we present a case of a 9-year-old girl with PFA ependymoma characterized by a lack of trimethylation of histone H3 at lysine 27 and elevated chromosome X open reading frame 67 expression. Despite multiple surgeries and radiotherapies, the patient had a rapid recurrence and developed osseous and pulmonary metastases, which may be attributed to the homozygous deletion of cyclin-dependent kinase (CDK) inhibitor 2A/B and CDK12 mutation. Importantly, the CDK12 mutation observed in the patient may be indicative of the need for further work-up to consider chemotherapy rather than administering poly (adenosine diphosphate-ribose) polymerase inhibitors. Taken together, this is the first report of pediatric PFA ependymoma with extraneural metastases, wherein we clarified the diagnostic procedures of this newly identified PFA ependymoma and provided new cues to study the invasiveness of this disease and treatment selection for such patients.
Ependymomas account for 10% of all malignant pediatric central nervous system tumors. Standard therapy includes maximal safe surgical resection, followed by focal radiation. Despite the aggressive therapy, progression-free survival is poor. Most ependymoma relapses occur locally at the original tumor site. Extraneural presentations of ependymoma are extremely rare, and no standard of care treatment exists. We present a single-institution case series of 3 patients who experienced extraneural relapses of supratentorial ependymoma and describe their treatment and outcome. These cases of extraneural relapse highlight the possible modes of extraneural spread, including hematogenous, lymphatic, and microscopic seeding through surgical drains and shunts. In addition, they illustrate the increase in histologic grade and mutational burden that may occur at the time of relapse. These cases illustrate the role of aggressive, individualized treatment interventions using a combination of surgery, radiation, and chemotherapy.
