Unusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme?

Rogers, Sasha; Jones, David; Ireland, Amanda; Gottardo, Nicholas G.; Endersby, Raelene

doi:10.1016/j.jocn.2018.01.048

Cited by 6 publications

(5 citation statements)

References 28 publications

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“…It may occur at all ages but is more common in adults ( Bates et al, 2016 ). The pathogenic mechanisms of myxopapillary ependymomas are still unknown, although some recurring copy-number variations ( Rogers et al, 2018 ) and upregulations of enzymes promoting a Warburg metabolic phenotype have been described ( Mack et al, 2015 ). Histologically, tumor cells are usually arranged around hyalinized fibrovascular cores, forming multiple papillary structures.…”

Section: Ependymal Tumorsmentioning

confidence: 99%

Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?

d’Amati,

Bargiacchi,

Rossi

et al. 2024

Front. Mol. Neurosci.

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The fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS), published in 2021, established new approaches to both CNS tumor nomenclature and grading, emphasizing the importance of integrated diagnoses and layered reports. This edition increased the role of molecular diagnostics in CNS tumor classification while still relying on other established approaches such as histology and immunohistochemistry. Moreover, it introduced new tumor types and subtypes based on novel diagnostic technologies such as DNA methylome profiling. Over the past decade, molecular techniques identified numerous key genetic alterations in CSN tumors, with important implications regarding the understanding of pathogenesis but also for prognosis and the development and application of effective molecularly targeted therapies. This review summarizes the major changes in the 2021 fifth edition classification of pediatric CNS tumors, highlighting for each entity the molecular alterations and other information that are relevant for diagnostic, prognostic, or therapeutic purposes and that patients’ and oncologists’ need from a pathology report.

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Section: Ependymal Tumorsmentioning

confidence: 99%

Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?

d’Amati,

Bargiacchi,

Rossi

et al. 2024

Front. Mol. Neurosci.

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“…More than a century ago, Mallory et al first described the case of an ependymoma that developed in the subcutaneous tissue of the sacrococcygeal region [ 9 ]. Since then, only a few cases have been reported in literature with less than 50 reported cases occurring in childhood during the last 35 years ( Table 1 ) [ 4 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ]. They occur more frequently in the sacrococcygeal region, followed by the pelvic region, while cases of onset in the liver, lung, or mediastinum are rarer and mainly described in adulthood [ 3 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…Extra CNS ependymomas arising in childhood have a tendency for both local and metastatic recurrences, the inguinal nodes being the most common localization. Relapse occurs in about 20% of cases described in the last 35 years, even more than 10 years after the initial remission [ 4 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ]. Despite this, the prognosis is good: in the past 35 years, only one death in 39 cases has been reported in the literature [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Pediatric Extraspinal Sacrococcygeal Ependymoma: Report of Two Cases and Literature Review

et al. 2021

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Primary central nervous system (CNS) tumors represent the most common solid tumors in childhood. Ependymomas arise from ependymal cells lining the wall of ventricles or central canal of spinal cord and their occurrence outside the CNS is extremely rare, published in the literature as case reports or small case series. We present two cases of extra-CNS myxopapillary ependymomas treated at our institution in the past three years; both cases originate in the sacrococcygeal region and were initially misdiagnosed as epidermoid cyst and germ cell tumor, respectively. The first case, which arose in a 9-year-old girl, was treated with a surgical excision in two stages, due to the non-radical manner of the first operation; no recurrence was observed after two years of follow-up. The other case was a 12-year-old boy who was treated with a complete resection and showed no evidence of recurrence at one-year follow-up. In this paper, we report our experience in treating an extremely rare disease that lacks a standardized approach to diagnosis, treatment and follow-up; in addition, we perform a literature review of the past 35 years.

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“…Other common differential diagnoses include lipoma, chordoma, neurofibroma and teratoma [ 8 ]. This broad differential highlights the importance of considering diagnoses alternative to pilonidal disease in persistent and refractory swelling or pain in the natal cleft [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

An unexpected diagnosis of paediatric subcutaneous sacrococcygeal extraspinal ependymoma: lessons learnt and review of the literature

Gupta

Patel

El-Medani

et al. 2020

Journal of Surgical Case Reports

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Abstract This case describes a 9-year-old male who presented to general surgical clinic with a 3-year history of persistent natal cleft swelling, previously unsuccessfully treated as a pilonidal abscess in the community with multiple courses of antibiotics. In clinic, a 50 × 30-mm soft tissue swelling was found in the natal cleft and a clinical diagnosis of a pilonidal cyst was made. A cream-coloured solid mass measuring 50 × 35 × 30 mm was subsequently excised under general anaesthetic, with specialist histology and immunostaining confirming an unexpected diagnosis of a subcutaneous extraspinal myxopapillary ependymoma, a tumour usually found in the neuraxis. Given the atypical anatomical site of the tumour, the case presented a unique management challenge. Ultimately, the patient underwent a re-operation after specialist multi-disciplinary discussion and is currently disease free at 18 months post-surgery. The authors wish to contribute their experiences of managing this rare extraspinal ependymoma to the few existing reports in the literature.

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Unusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme?

Cited by 6 publications

References 28 publications

Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?

Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?

Pediatric Extraspinal Sacrococcygeal Ependymoma: Report of Two Cases and Literature Review

An unexpected diagnosis of paediatric subcutaneous sacrococcygeal extraspinal ependymoma: lessons learnt and review of the literature

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