Pediatric extraspinal sacrococcygeal ependymoma (ESE): an Italian AIEOP experience of six cases and literature review

Schiavello, Elisabetta; Biassoni, Veronica; Antonelli, Manila; Modena, Piergiorgio; Cesaro, Simone; Pierani, Paolo; Gandola, Lorenza

doi:10.1007/s00381-018-3805-y

Cited by 15 publications

(31 citation statements)

References 38 publications

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“…Occasionally, they occur at other central nervous system (CNS) locations including the cervical and thoracic spinal cord, the fourth ventricle, the lateral ventricles and the brain parenchyma . Less commonly, they have been reported to occur in the absence of a previous or concomitant spinal cord MPE, at sites including the subcutaneous sacrococcygeal region, presacral region and mediastinum, possibly arising from ectopic ependymal rests .…”

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confidence: 99%

Clinicopathologic features of anaplastic myxopapillary ependymomas

et al. 2019

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Myxopapillary ependymomas (MPE) are considered benign (World Health Organization (WHO) grade I) neoplasms with favorable prognosis. However, malignant behavior occurs in a small subset. To our knowledge, only five anaplastic MPEs have been reported without consensus on diagnostic criteria. We retrieved 14 anaplastic MPEs from the pathology archives of six institutions. Each tumor included at least two of the following features: ≥5 mitoses per 10 high power fields, Ki-67 labeling index (LI) ≥10%, microvascular proliferation (MVP) and spontaneous necrosis. These features were typically encountered in the foci of hypercellularity and reduced mucin. There were eight male and six female patients (age range 6-57 years, median = 16.5). Ten tumors displayed anaplasia at initial resection, and 4 were anaplastic at a second surgery for recurrence (ranging from 9 months to 14 years following initial resection). The Ki-67 LI ranged between 8% and 40% in the anaplastic foci and <3% in the foci of classic MPE. There was documented cerebrospinal fluid (CSF) dissemination in seven cases, recurrence following an anaplastic diagnosis in three cases and bone or soft tissue invasion in two cases. One patient suffered lung metastases. Two cases evaluated by targeted next-generation sequencing and one evaluated by fluorescence in situ hybridization (FISH) showed nonspecific chromosomal gains. We conclude that although rare, anaplastic MPE occurs in both pediatric and adult patients, similar to other ependymomas. At a minimum, closer follow-up is recommended, given the concern for aggressive biologic potential. Further study is needed to determine WHO grading criteria and genetic indicators of tumor progression.

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Section: Introductionmentioning

confidence: 99%

Clinicopathologic features of anaplastic myxopapillary ependymomas

et al. 2019

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“…In our case, differentiating from pilonidal disease was the lack of a documented inflammatory episode or additional features such as sinus formation, chronic discharge and localised sepsis. 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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“…These are rare, with only 50 extraspinal subcutaneous sacrococcygeal cases previously reported [3,4]. It is hypothesised that they arise from the coccygeal medullary vestige, an ependymal-lined cavity which is a neural tube remnant over the tip of the coccyx [1,5,6].…”

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confidence: 99%

“…Most MPEs are classified as WHO grade I and are generally non-aggressive with a favourable prognosis [1]. However, 15-35% can metastasize to regional subcutaneous soft tissues, bone, lungs and pleura via haematogenous spread [5]. Given the relatively non-specific imaging features, subcutaneous MPE should be included in the differential diagnosis of pericoccygeal masses along with sacrococcygeal teratoma, pilonidal cyst and neurogenic tumours [4,8].…”

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Diagnosis: subcutaneous myxopapillary ependymoma

et al. 2020

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Discussion MRI demonstrated a 6.7 × 6 × 6 cm lobular fluid signal intensity mass arising from the midline natal cleft abutting the coccyx, with multiple hypointense internal septa (Fig. 1). The mass was well-circumscribed and confined to the intergluteal fold subcutaneous tissues. The distal thecal sac, cauda equina and conus were normal. An ultrasound-guided biopsy was performed to exclude a soft tissue sarcoma. Tumour resection histology showed a pseudopapillary architecture with a central core composed of PAS-positive myxohyaline matrix, and small vessels around which relatively uniform cuboidal to columnar cells were arranged. Mild cytological atypia was noted with low mitotic count. Characteristic immunoprofile included S100 and GFAP cytoplasmic positivity, while cytokeratin was negative (Fig. 2). A diagnosis of subcutaneous myxopapillary ependymoma (MPE) was made. Ependymomas are common spinal tumours, with an average age of 35 years and a male predilection [1, 2]. A minority The case presentation can be found at

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Pediatric extraspinal sacrococcygeal ependymoma (ESE): an Italian AIEOP experience of six cases and literature review

Cited by 15 publications

References 38 publications

Clinicopathologic features of anaplastic myxopapillary ependymomas

Clinicopathologic features of anaplastic myxopapillary ependymomas

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

Diagnosis: subcutaneous myxopapillary ependymoma

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