Additional chromosome 1q aberrations and der(16)t(1;16), correlation to the phenotypic expression and clinical behavior of the Ewing family of tumors

The cytogenetic hallmark of the Ewing family of tumors is t(11;22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. Additional secondary consistent chromosomal aberrations include the der(16)t(1;16) and, frequently, other chromosome 1q abnormalities leading to 1q overdosage. We studied whether these secondary cytogenetic changes are correlated to clinical features and phenotypic expression which may have a prognostic impact.Successful cytogenetic evaluation was performed in eight patients with a Ewing family tumor. In four of these, in addition to the primary aberration, chromosome 1q overdosage (including two with der(16)t(1;16)) was noted. Out of these four patients, two had metastatic disease at the time of evaluation, while in the other four, disease was localized. Morphologically, the tumors with the additional 1q aberration, revealed the pPNET subtype more frequently than the typical Ewing. They also expressed a higher degree of neural differentiation by neural marker immunocytochemistry, in comparison to tumors without the 1q aberration.Determination of the prognostic significance of this finding requires a longer follow-up with a larger group of patients.     

Peripheral primitive neuroectodermal tumor: Dynamic CT,MRI and clinicopathological characteristics - analysis of 36 cases and review of the literature

Background

The peripheral primitive neuroectodermal tumor (pPNET) is a rare malignant tumor originating from neuroectoderm. The accurate diagnosis is essential for the treatment of pPNET.

Methods

we performed the largest cases of retrospective analysis thus far to review the unique computed tomography (CT), magnetic resonance imaging (MRI), and clinicopathological features of pPNET. The tumor location, morphological features, signal intensity, contrast enhancement characteristics, and involvement of local soft tissues of 36 pPNETs were assessed.

Results

Our results showed that there were more men (25/36) than women pPNETs patients. Unenhanced MRI (16 cases) showed that 14 cases were isointense and 2 cases were hypointense on T1WI. Nine cases were isointense and 7 were hyperintense on T2WI. Most pPNETs had heterogeneous signal intensity with small necrosis (CT: 31/36; MRI: 14/16) as well as heterogeneous enhancement (CT: 34/30; MRI: 15/16). The tumors usually had ill-defined borders and irregular shapes (CT: 30/36; MRI: 15/16). Pathologic exam showed small areas of necrosis in all tumors.

Conclusions

The diagnosis of pPNET should be suggested in young men when the imaging depicts a single large ill-defined solid mass with small area of necrosis, especially for those whose images show iso-intense on T1WI and T2WI and have heterogeneous enhancement.     

Peripheral primitive neuroectodermal tumor within the spinal epidural space

A case of an epidural spinal peripheral primitive neuroectodermal tumor (pPNET) in a 13‐year‐old girl is presented. The tumor was disseminated at the moment of diagnosis, thus only diagnostic oligobiopsy of the epidural mass was performed. Histologically the tumor was composed of small round blue cells. The neoplastic cells expressed MIC2 and features of neural differentiation on immunohistochemical staining (neuron‐specific enolase, synaptophysin and NCAM positivity). Fluorescent in situ hybridization (FISH) analysis was performed for the final diagnosis and the translocation t(11;22)(q24;q12) was detected. The present case emphasizes the usefulness of FISH in differential diagnosis of tumors, especially when only routinely fixed material is available.     

Ewing sarcoma: favourable results with combined modality therapy and conservative use of radiotherapy

BACKGROUND: At the Hospital for Sick Children (HSC), we have treated Ewing sarcoma (ES) with multi-agent chemotherapy, surgery and conservative use of radiotherapy for local control. Our objective was to describe the outcome and prognostic factors associated with this strategy. PROCEDURE: We performed a retrospective chart review of children diagnosed with ES at HSC from Feb 1984 to June 1999. RESULTS: Seventy-two evaluable children were identified. All received chemotherapy. Local control administered was surgery (n = 37), radiation (n = 23), both (n = 10) or neither (n = 2). The 7-year EFS was 66.4%. Recurrence occurred in 23 patients, 7 locally and 16 distantly. Better EFS was associated with male gender (78.5% vs. 52.1%; P = 0.007), localised disease (77.0% vs. 39.4%; P = 0.0004), extremity primary (88.2% vs. 52.8%; P = 0.005) and non-pelvic primary (75.7% vs. 18.2%; P < 0.0001). CONCLUSIONS: Favourable outcomes were seen for patients treated with multi-agent chemotherapy, surgery and conservative use of radiotherapy. Metastatic disease rather than local control was the major cause of failure.     

Ewing/pPNET的组织起源

Ｅｗｉｎｇ/ｐＰＮＥＴ是指包括骨和软组织Ｅｗｉｎｇ肉瘤、Ａｓｋｉｎ瘤和外周原始神经外胚瘤在内的一族肿瘤。肿瘤分化谱的一端是仅呈ｖｉｍｅｎｔｉｎ (间叶表型 )阳性的Ｅｗｉｎｇ肉瘤 ;另一端则为具ＮＳＥ等神经标记的外周原始神经外胚瘤。其中偶有呈ｃｙｔｏｋｅｒａｔｉｎ或ｄｅｓｍｉｎ(或ａｃｔｉｎ)阳性的瘤细胞〔1〕。Ｌｉｃｈｔｅｎ ｓｔｉｎ和Ｊａｆｆｅ〔1〕设想Ｅｗｉｎｇ肉瘤起源于间叶或结缔组织的原始形式。Ａｕｒｉａｓ等 (1 983)和Ｗａｎｇ等〔1〕 发现ＥＳ与ｐＰＮＥＴ具有一致性的细胞遗传学异常。 2 0世纪 90年代研…     

软组织外周性原始神经外胚层瘤的临床病理分析

目的分析软组织外周性原始神经外胚层瘤的临床病理特征,为临床诊断与治疗提供参考和依据。方法整理我院收治的12例软组织外周性原始神经外胚层瘤患者的病理检测及诊断治疗资料,将病理检测结果与术后最终确诊结果进行对比,分析两者间的关系,并分析归纳出软组织外周性原始神经外胚层瘤的临床病理特征。结果术前单纯病理检验结果为软组织外周性原始神经外胚层瘤10例,检测正确率为83.3%,经统计学分析与最终诊断结果具有正相关性,0     

Peripheral primitive neuroectodermal tumor of the posterior mediastinum：A case report

Peripheral primitive neuroectodermal tumor （pPNET） is an extremely rare disease entity of malignant tumors belonging to the Ewing sarcoma family that usually occurs in children and adolescents. We describe a 41-year-old female who presented with right upper abdominal pain. Surgical resection and biopsy revealed small round-cell tumor. Combined with immunohistochemical analysis, pPNET was diagnosed. No evidence of recurrence was noted at 18 months postoperatively. Even thought pPNET is a highly malignant tumor, Wide tumor-free resection and multi-agent chemotherapy can also obtain good clinical outcomes.     

外周原始神经外胚叶肿瘤的临床病理

目的探讨外周原始神经外胚叶肿瘤(pPNET)的病理学特征、诊断及鉴别诊断。方法应用免疫组化方法,对我院1996年~2006年间10例病理诊断为外周原始神经外胚叶肿瘤患者的年龄、性别、发病部位、病理特征及免疫组化表型进行回顾性临床病理分析。结果pPNET好发于儿童及青年,肿瘤沿身体长轴分布,细胞呈小圆形,部分为梭形,密集呈巢状排列,由纤维结缔组织分割成分叶状或腺泡状,常形成Homer-Wrigh菊形团结构,血管丰富,易出血及坏死。免疫组化CD99及至少2项神经性标记阳性。结论pPNET是来源于神经外胚叶组织的小细胞恶性肿瘤,免疫组化染色对诊断和鉴别诊断是必不可少的。