Embryonal tumor with multilayered rosettes: illustrative case and review of the literature

Abstract

Pediatric intracranial ETMR is a highly aggressive neoplasm, and it should be considered in the differential diagnosis of pediatric brain tumors.

Embryonal Tumor With Multilayered Rosettes of the Parietooccipital Region: A Case Report

“…13 In addition, concerns about the effects of radiation on future neurocognitive function often restrict its utility in this age group. 3 For our patient, the choice to pursue focal radiotherapy was balanced with the potential downstream risks, and her long-term remission may be partly attributable to this aspect of therapy. Our case may serve to further justify consideration of focal radiotherapy in this young patient population on a case by case basis with multidisciplinary expert review and parental informed consent.…”

“…To our knowledge, there has been <10 reports of tumors in this location. 3,11,12 The presenting symptoms of ETMR vary depending on tumor location, size, or secondary obstruction of cerebrospinal fluid circulation. 13 Common clinical signs include hemiparesis, confusion, seizures, and symptoms of raised intracranial pressure.…”

“…Our case was somewhat rare in that the lesion was located in the parietooccipital region of the cerebrum. To our knowledge, there has been <10 reports of tumors in this location 3,11,12. The presenting symptoms of ETMR vary depending on tumor location, size, or secondary obstruction of cerebrospinal fluid circulation 13.…”

“…Historically, radiation therapy has not been used extensively to treat ETMR because of a variety of factors, particularly that there exists no standard protocol for treating young children with both chemotherapy and radiotherapy 13. In addition, concerns about the effects of radiation on future neurocognitive function often restrict its utility in this age group 3. For our patient, the choice to pursue focal radiotherapy was balanced with the potential downstream risks, and her long-term remission may be partly attributable to this aspect of therapy.…”

“…ETMR encompasses a group of 3 histologically distinct embryonal tumors: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. 3 Formerly recognized as separate entities, these tumors were grouped into a single diagnostic class in the 2016 WHO Classification of Tumors of the CNS after it was discovered that they share a common molecular characteristic. 1 The discovery of C19MC locus amplification at 19q13.42 unified these tumors as a single-biologic entity, and this cytogenetic feature is now diagnostic of the disease.…”