Primary spinal intramedullary Ewing-like sarcoma harboring CIC-DUX4 translocation: a similar cytological appearance as its soft tissue counterpart but no lobulation in association with desmoplastic stroma

Yamada, Seiji; Muto, Jun; Leon, John Clemente Aniceto De; Kumai, Tadashi; Ito, Keisuke; Murayama, Kazuhiro; Hama, Natsuko; Nakano, Yoshiko; Satomi, Kaishi; Arai, Yasuhito; Shibata, Tatsuhiro; Inoue, Takahiro; Nobusawa, Sumihito; Ichimura, Koichi; Hirose, Yuichi; Abe, Masato

doi:10.1007/s10014-020-00366-y

Cited by 14 publications

(13 citation statements)

References 32 publications

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“…The identified cases showed that intramedullary Ewing sarcoma was located mainly in the thoracic and lumbar regions, although cervical and sacral locations were also reported. 4 – 36 The current case had a thoracic intramedullary lesion and a lumbar extramedullary lesion, both causing neural compression and deficits.…”

Section: Discussionmentioning

confidence: 87%

“… 2 The prognosis and survival rate for patients with spinal cord Ewing sarcoma is not well known because of the rarity of the condition; however, based on previous cases ( Table 1 ), the survival rate was 45% to 50% in primary cases and 30% to 35% in recurrent and metastatic cases. 4 – 36 In surviving cases, rehabilitation and physical therapy should be considered part of the treatment program to improve the patient’s neurological status. In the current case, the patient improved markedly after 4 months of physical therapy and rehabilitation.…”

Section: Discussionmentioning

confidence: 99%

“…Although metastasis of Ewing sarcoma to the central nervous system (CNS) as well primary CNS disease have been reported previously, involvement of the spinal cord is extremely rare and requires specific management and considerations. 3 To date, only 36 cases of intramedullary Ewing sarcoma have been reported (summarized in Table 1), 4–36 among which there were 31 primary cases 4–11,13,15–17,19–32,34,36 and 5 recurrent and metastatic cases. 12,14,18,33,…”

Section: Introductionmentioning

confidence: 99%

“…2 Although metastasis of Ewing sarcoma to the central nervous system (CNS) as well primary CNS disease have been reported previously, involvement of the spinal cord is extremely rare and requires specific management and considerations. 3 To date, only 36 cases of intramedullary Ewing sarcoma have been reported (summarized in Table 1), among which there were 31 primary cases [4][5][6][7][8][9][10][11]13,[15][16][17][19][20][21][22][23][24][25][26][27][28][29][30][31][32]34,36 and 5 recurrent and metastatic cases. 12,14,18,33,35 Because the number of reported cases of intramedullary Ewing sarcoma is limited, disease management and patient survival data, as well as patient outcomes, remain inconclusive.…”

Section: Introductionmentioning

confidence: 99%

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Metastatic thoracic and lumbar intramedullary and extramedullary Ewing’s sarcoma: a rare case report and literature review

et al. 2022

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Ewing sarcoma (ES) is a highly aggressive bone and soft tissue tumor that occurs mainly in young children and adolescents and is associated with primary and metastatic disease. Intramedullary ES (either primary or secondary) is rare, and the ideal management remains inconclusive. We herein report intramedullary and extramedullary metastatic ES in a single patient. A 46-year-old woman was referred to our outpatient clinic from the oncology clinic with progressive paraparesis and paresthesia for 1 week prior to presentation. She had developed left clavicular ES 2 years earlier for which surgery and chemoradiotherapy had been performed. At the present evaluation, she was diagnosed with intramedullary thoracic and lumbar extradural masses. Thoracic surgery was performed, and a biopsy of the lesion was obtained. The diagnosis of ES was confirmed histopathologically, and she underwent adjuvant chemotherapy. Her neurological status did not improve after surgery, and she underwent rehabilitation and physical therapy. The lumbar lesion resolved with chemotherapy. Metastasis of ES to the spinal cord, especially intramedullary lesions, is extremely rare, and there is no standard management guideline. However, surgical decompression and adjuvant chemotherapy are the main treatments in these cases.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Metastatic thoracic and lumbar intramedullary and extramedullary Ewing’s sarcoma: a rare case report and literature review

et al. 2022

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“…Tumour cells have inconspicuous cytoplasm, but a subset of cells may have eosinophilic or rhabdoid cytoplasm. Variants with fibrous to desmoplastic stromal changes have been described 26 . The cells are arranged in sheets or form short fascicles without accompanying stroma, except for focal myxoid changes and frequent haemorrhagic areas (Figure 5).…”

Section: Cic‐rearranged Sarcomasmentioning

confidence: 99%

Advances in the classification of round cell sarcomas

Loarer

Baud

Azmani³

et al. 2021

Histopathology

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Round cell sarcomas represent a diagnostic challenge for pathologists, owing to the poorly differentiated features of these high‐grade tumours. The diagnosis of round cell sarcoma requires large immunohistochemical panels and molecular testing in many cases. This spectrum of malignancies is largely dominated by Ewing sarcomas (ESs), which represent the most common family of these tumours. Nonetheless, new families have been delineated in the past few years, with the addition of two additional families in the 2020 World Health Organization classification of bone and soft tissue tumours, namely sarcomas with CIC rearrangements and sarcomas with BCOR alterations. EWSR1, one of the genes involved in the driver fusion of ESs, is also implicated in the translocation of many other tumours with heterogeneous lineages and variable levels of aggressiveness. Round cell sarcomas associated with fusions inwhichEWSR1is partnered with genes encoding transcription factors distinct from those of the ‘Ewing family’ represent a heterogeneous group of rare tumours that require further study to determine whether their fusions may or not define a specific subgroup. They include mainly sarcomas with NFATc2 rearrangements and sarcomas with PATZ1 rearrangements. At this point, PATZ1 fusions seem to be associated with tumours of high clinical and morphological heterogeneity. Molecular studies have also helped in the identification of more consistent biomarkers that give tremendous help to pathologists in triaging, if not diagnosing, these tumours in practice. This review compiles the latest accumulated evidence regarding round cell sarcomas, and discusses the areas that are still under investigation.

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