Intracranial Ewing sarcoma with whole genome study

Yim, Jeemin; Lee, Woo Seung; Kim, Seung Ki; Kang, Hyoung Jin; Bae, Jonghee; Park, Jong Bae

doi:10.1007/s00381-018-3997-1

Cited by 16 publications

(29 citation statements)

References 13 publications

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“…Intracranial ES/pPNETs are very rare malignant tumors, accounting for 0.03% of the total number of intracranial tumors ( 3 , 4 ), with only 57 cases reported until now. ES/pPNETs mostly occur in children and adolescents with a median age at first onset of disease being 15 years of age, and the peak of disease is prominent in the second decade, ranging from 5 months to 67 years of age, with a slight male predisposition ( 14 , 16 – 18 ).…”

Section: Discussionmentioning

confidence: 99%

“…ES/pPNETs are highly aggressive, malignant tumors with focal necrosis ( 1 ). They are mainly composed of small, round or oval, undifferentiated cells, with hyperchromatic nuclei, increased mitotic activity, and a slightly basophilic cytoplasm ( 1 , 3 , 4 ). Moreover, the tumor cells are markedly fibrotic, highly mitotic, and separated by groups of cells containing collagen bands ( 1 , 3 , 4 , 14 , 18 ).…”

Section: Discussionmentioning

confidence: 99%

“…They are mainly composed of small, round or oval, undifferentiated cells, with hyperchromatic nuclei, increased mitotic activity, and a slightly basophilic cytoplasm ( 1 , 3 , 4 ). Moreover, the tumor cells are markedly fibrotic, highly mitotic, and separated by groups of cells containing collagen bands ( 1 , 3 , 4 , 14 , 18 ). Membranous expression of CD99 is a highly reliable and sensitive diagnostic biomarker for primary intracranial ES/pPNETs ( 3 , 4 , 13 – 15 , 18 ), and was detected in nearly all patients.…”

Section: Discussionmentioning

confidence: 99%

“…For patients over 30 years of age, only 9 cases have been reported ( 4 – 12 ). Fusion of the EWSR1 gene with a member of the ETS gene family is thought to be the primary cause of the ES/pPNETs ( 3 , 4 , 13 – 15 ). Herein, we present a case of ES/pPNET located in the left frontal lobe of a 55-year-old female, who was tested through histological examination, immunohistochemical analysis and fluorescence in situ hybridization (FISH).…”

Section: Introductionmentioning

confidence: 99%

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Primary Intracranial Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Mimicking Meningioma: A Case Report and Literature Review

et al. 2020

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Background: Primary intracranial Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumors (pPNETs) are extremely rare malignancies, which arise in children and adolescents, with only 9 cases reported in patients over 30 years of age. Due to its rarity, MRI features and treatment strategies for primary intracranial ES/pPNETs remain unclear. The purpose of this study was to explore the clinical features, imaging findings, pathological characteristics, different diagnoses, treatment, and prognosis of cerebellar liponeurocytoma in adults. Case Description: A 55-year-old female was admitted to the hospital with memory decline over 1 month, which aggravated in the last 2 weeks. MRI showed a 4.3 × 6.5 × 3.5 cm heterogeneous large mass in the left frontal lobe with mild peritumoral edema. The mass was successfully removed under neuronavigation and electrophysiological monitoring. The entire mass was removed, and postoperative pathology indicated an ES pPNET diagnosis, with an EWSR1 gene rearrangement. Subsequently, the patient underwent disciplinary radiotherapy. Conclusion: The diagnosis of primary intracranial ES/pPNETs depends on the comprehensive consideration of histological examination, immunohistochemical analysis, and genetic detection. Gross tumor resection combined with radiotherapy and chemotherapy might be the most beneficial treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Primary Intracranial Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Mimicking Meningioma: A Case Report and Literature Review

et al. 2020

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“…Primitive small round cell sarcomas and infantile brosarcomas are rare childhood sarcomas that pose diagnostic and therapeutic challenges. Recently, con rmative diagnosis of neoplasms has been made possible at the genomic level by identi cation of driver mutation or marker gene alterations [24]. Recent reports have described emerging pediatric fusion-positive sarcomas, including NTRK [5,8,25,26].…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological findings of Pediatric NTRK fusion mesenchymal tumors

Kang

Park

Won

et al. 2020

Preprint

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Background: While ETV6- NTRK3 fusion is common in infantile fibrosarcoma, NTRK1/3 fusion in pediatric tumors is scarce and, consequently, not well known. Herein, we evaluated NTRK1/3 fusion pediatric mesenchymal tumors clinicopathologically and immunophenotypically. Methods: We reviewed nine NTRK fusion pediatric sarcomas confirmed by fluorescence in situ hybridization and/or next-generation sequencing from Seoul National University Hospital between 2002 and 2020. Results: One case of TPR NTRK1 fusion-positive intracranial extra-axial high-grade undifferentiated sarcoma (12-year-old boy), one case of LMNA-NTRK1 fusion-positive low-grade infantile fibrosarcoma of the forehead (3-year-old boy), one case of ETV6-NTRK3 fusion-positive inflammatory myofibroblastic tumor (IMT) (3-months-old girl), and six cases of ETV6-NTRK3 fusion-positive infantile fibrosarcoma (median age: 2.6 months, range: 1.6–5.6 months, M: F = 5:1) were reviewed. The Trk immunopositive pattern was distinctive according to the fusion genes. We notified nuclear positivity in TPR-NTRK1 fusion sarcoma, nuclear membrane positivity in LMNA-NTRK1 fusion sarcoma, and both cytoplasmic and nuclear positivity in ETV6-NTRK3 fusion-positive IMT and infantile fibrosarcomas. Also, the TPR-NTRK1 fusion sarcoma showed robust positivity for CD34/nestin and high mitoses. The LMNA-NTRK1 fusion sarcoma revealed CD34/S100 protein/nestin/CD10 coexpression, and a low mitotic rate. The IMT with ETV6-NTRK3 fusion expressed SMA. Six infantile fibrosarcomas with ETV6-NTRK3 fusion showed variable coexpression of nestin (6/6)/CD10 (4/5)/ S100 protein (3/6). Conclusions: All cases of NTRK1 and NTRK3 fusion-positive pediatric tumors robustly expressed the Trk protein. A Trk immunopositive pattern and CD34/S100/nestin/CD10/SMA immunohistochemical phenotype may suggest NTRK fusion partner genes and diagnoses. LMNA-NTRK1 fusion sarcoma might be a low-grade subtype of infantile fibrosarcoma. Interestingly, more than half of the infantile fibrosarcoma cases were positive for S100 protein and CD10. The follow-up period of TPR-NTRK1 and LMNA-NTRK1 fusion tumors are not enough to predict prognosis. However, ETV6-NTRK3 fusion infantile fibrosarcomas showed an excellent prognosis with no evidence of disease for an average of 11.7 years after gross total resection of the tumor.

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