A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

Yamaguchi, Umio; Hasegawa, Tadashi; Morimoto, Yuki; Tateishi, Ukihide; Endo, Makoto; Nakatani, Fumihiko; Kawai, Akira; Chuman, Hirokazu; Beppu, Yasuo; Kurotaki, Hidekachi; Furuta, Koh

doi:10.1136/jcp.2004.025502

Cited by 71 publications

(46 citation statements)

References 33 publications

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“…FISH using EWSR1 break-apart probes is also a welladapted method for the routine demonstration of a EWSR1 gene locus rearrangement in formalin-fixed tissue. 7,11 Thanks to multimodal therapy associating initial chemotherapy and surgery with or without radiotherapy, the prognosis of ES/PNET has significantly improved, although it still remains relatively poor with a 5-year disease-free survival of about 60% for nonmetastatic patients at presentation. 14 According to the present study as well as two previously reported series, 7,8 superficial ES (ie, in the skin and/ or subcutis) has a better prognosis than deep-seated lesions.…”

Section: Discussionmentioning

confidence: 99%

“…10 This specific genetic abnormality can be routinely demonstrated by reverse transcriptase (RT)-PCR or by FISH. 10,11 The prognosis of bone and deep-seated soft tissue ES/PNET is poor despite various combinations of surgery, chemotherapy, and/or radiotherapy. In two small series, 7,8 it was suggested that superficial ES/PNET might have a more favorable prognosis.…”

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confidence: 99%

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Superficial primitive Ewing's sarcoma: a clinicopathologic and molecular cytogenetic analysis of 14 cases

et al. 2009

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Superficial primitive Ewing's sarcomas are rare and have been reported to be of favorable prognosis compared to conventional deep-seated tumors. In the skin and subcutis, the diagnosis is often difficult, and performing molecular cytogenetic techniques may be helpful. We performed a retrospective analysis of 14 cases of superficial Ewing's sarcomas, all confirmed by molecular cytogenetics. Clinical, histological, immunohistochemical, molecular cytogenetic, therapeutic, and follow-up data are reported. There were 11 female and 3 male patients aged from 12 to 77 years (median: 17 years). Seven tumors occurred in the extremities, five in the trunk wall, and two in the head. Tumor size ranged from 1 to 5 cm (median, 3 cm). They were all small round-cell proliferations with a strong membranous positivity for CD99. Ewing's sarcoma translocations/fusion gene transcripts were detected in eight cases, both by FISH and reverse transcriptase (RT)-PCR. Four tumors were positive by RT-PCR alone (FISH not done in three cases and not interpretable in one case), and two cases were positive by FISH alone (RT-PCR not done). Surgical resection was performed in all patients. Chemotherapy was given in ten patients and radiotherapy in six. At last medical examination (median follow-up, 47 months), two patients who underwent surgical resection alone had died from the tumor. Our results confirm that superficial Ewing's sarcomas are of good prognosis. Given the difficulty of the diagnosis and the importance of an adapted treatment, a confirmation of the diagnosis by molecular or cytogenetic techniques is recommended when dealing with a superficial tumor.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Superficial primitive Ewing's sarcoma: a clinicopathologic and molecular cytogenetic analysis of 14 cases

et al. 2009

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“…The method for in situ hybridization analysis with the Vysis break-apart probe has been previously reported. [12][13][14][15][16][17] Briefly, 100 nuclei from a tumor area were counted for probe signals under a fluorescence microscope at Â 1000 magnification. Only nonoverlapping tumor nuclei with two red and two green signals were counted.…”

Section: Methodsmentioning

confidence: 99%

Primitive neuroectodermal tumors in patients with testicular germ cell tumors usually resemble pediatric-type central nervous system embryonal neoplasms and lack chromosome 22 rearrangements

et al. 2010

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Primitive neuroectodermal tumors (PNETs) are one of the most frequent types of 'non-germ cell' tumor in patients with testicular germ cell tumors and have a guarded prognosis when present in metastatic sites after cisplatin-based chemotherapy. Improved treatments, including targeted therapy, require understanding the biology of these neoplasms. We therefore analyzed the morphologic, immunohistochemical and molecular biologic features of 14 PNETs from 14 patients with concurrent or previous testicular germ cell tumors; 12 tumors were from metastatic sites and 2 were primary in the testis. Using standard light microscopic criteria for central nervous system and peripheral PNETs, we classified nine tumors as medulloepithelioma, three as medulloblastoma/supratentorial PNET, one as neuroblastic tumor with abundant neuropil and true rosettes and one as small cell embryonal tumor/PNET (Ewing sarcoma-like). Immunostains directed against INI1, CD57, S-100 protein, NeuN, WT1, neurofilament, CD99, GFAP, synaptophysin, chromogranin, AE1/AE3 cytokeratin, Fli-1 and collagen IV were performed for each case. INI1 was diffusely and strongly positive in all tumors whereas the other stains, except for cytoplasmic WT1 (which showed substantial reactivity in most tumors), were mostly focal to negative, including CD99 (eight negative, six focal) and Fli-1 (all negative). The most consistently reactive 'neuroendocrine' marker was CD57. Each case was also analyzed for chromosome 22 rearrangements using a FISH-based break-apart probe method. Only 1 tumor, classified as medulloepithelioma, was scored positive for chromosome 22 translocation (22% rearranged cells) and the remaining 13 were negative, including the one case that resembled peripheral PNET. We conclude that PNETs derived from testicular germ cell tumors mostly resemble central nervous system PNETs and generally lack the chromosome 22 translocation of peripheral PNETs. Future treatment strategies should take these findings into account.

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“…Another 10% of cases have a variant translocation fusing EWS to closely related EWS genes such as ERG, ETV1, EIAF, and FEV. The ability to identify tumor-specific chromosomal translocations and associated fusion gene transcripts using interphase reverse transcriptase-polymerase chain reaction (RT-PCR) (29,31,32) and FISH (26,32) can be useful. In the present case, limited paraffin-embedded material from a resected specimen was available for FISH studies, and epidural EES was diagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…FISH studies of the first specimen were performed on a formalin-fixed, paraffin-embedded tissue section using the Ewing's sarcoma breakpoint region 1 (EWSR1), dual-color, break-apart probe (Vysis, Downer's Grove, IL, USA), which spans the known common breakpoints in the EWS gene on chromosome 22q12, as described previously (25,26). Signals were enumerated in 100 nuclei from an invasive area of the tumor located by comparison with hematoxylin and eosin staining.…”

Section: Case Reportmentioning

confidence: 99%

Extraskeletal Ewing's sarcoma of the thoracic epidural space: Case report and review of the literature

Yasuda

2011

Oncol Rep

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Abstract. The occurrence of primary extraskeletal Ewing's sarcoma (EES) of the spinal epidural space has been rarely reported in the literature. The clinical, radiologic and pathologic features of a case of EES occurring in the thoracic epidural space are presented. A 37-year-old woman presented with a one-year history of back pain. Magnetic resonance imaging demonstrated an epidural mass at the T8-9 level. Laminectomy and partial resection of the tumor were performed. The differential diagnosis of a spinal epidural mass is broad. Histopathological and molecular cytogenetic examinations confirmed an EES arising from the thoracic epidural space. Despite receiving both chemotherapy and radiotherapy, the patient died of respiratory insufficiency due to medulla oblongata metastasis 22 months after the initial consultation. Awareness of this entity will allow this rare diagnosis to be considered and facilitate appropriate management. A review of the literature on spinal epidural EES is also presented.

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A practical approach to the clinical diagnosis of Ewing’s sarcoma/primitive neuroectodermal tumour and other small round cell tumours sharing EWS rearrangement using new fluorescence in situ hybridisation probes for EWSR1 on formalin fixed, paraffin wax embedded tissue

Cited by 71 publications

References 33 publications

Superficial primitive Ewing's sarcoma: a clinicopathologic and molecular cytogenetic analysis of 14 cases

Superficial primitive Ewing's sarcoma: a clinicopathologic and molecular cytogenetic analysis of 14 cases

Primitive neuroectodermal tumors in patients with testicular germ cell tumors usually resemble pediatric-type central nervous system embryonal neoplasms and lack chromosome 22 rearrangements

Extraskeletal Ewing's sarcoma of the thoracic epidural space: Case report and review of the literature

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