儿童阴茎原始神经外胚层肿瘤/尤文氏瘤1例并文献复习

目的:探讨原发于阴茎的原始神经外胚层肿瘤/尤文氏瘤(PNET/Ewing's sarcoma)的临床表现、病理特点、治疗方法。方法:分析本院收治的1例5岁患儿原发于阴茎的PNET/EWS患者的病例资料进行文献复习。结果:病理表现为小圆细胞恶性肿瘤,免疫组化结果显示CD99(+),分子生物学检查:EWS荧光原位杂交可见易位,符合原始神经外胚层肿瘤/尤文氏肉瘤诊断,该患者经过病理确诊为阴茎PNET/EWS,经45周化疗和局部放疗,瘤灶缩小。目前停药3个月。结论:原发阴茎PNET/EWS极罕见,临床症状无特异性,以阴茎增大伴疼痛为主,免疫组化及分子生物学检查有助于对PNET/EWS的确诊。     

Extraskeletal Ewing's sarcoma: a case report and review of the literature

STUDY DESIGN: Case report. OBJECTIVES: To report on the diagnosis and current treatment of a rare tumor about the cervical spine. SUMMARY OF BACKGROUND DATA: Extraskeletal Ewing's sarcoma (EES) is rare and has not been previously described about the cervical spine. We present a case of a 24-year-old man with a large mass in the posterior triangle of the neck extending through the vertebral foramens of the cervical vertebrae. This was identified as an extraskeletal Ewing's sarcoma. Traditional treatment paradigms have been associated with a poor prognosis. Since the recommendations of the Intergroup Rhabdomyosarcoma Study II study of multimodal chemotherapy and radiotherapy, this tumor has a significantly better prognosis. METHOD: Surgical debulking of the tumor was necessary to relieve cord compression. Histologic analysis was used to confirm both magnetic resonance imaging and computed tomography diagnosis. A chemoradiation therapy program was commenced in accordance with Intergroup Rhabdomyosarcoma Study II recommendations. RESULTS: Computed tomography and magnetic resonance imaging demonstrated a large lobulated mass extending through the exit foramens of C2/C3 and C3/C4. The mass was entirely extraskeletal and extradural. Histologic examination of the excised mass showed microscopy consistent with extraskeletal Ewing's sarcoma. After surgical debulking and chemoradiation, the patient made a complete recovery. CONCLUSION: A review of the literature confirms that extraskeletal Ewing's sarcoma is a rare tumor and particularly so in the region of the cervical spine. Early diagnosis and surgical debulking combined with current multimodality chemoradiation programs can produce a favorable outcome.     

Case report: Periosteal Ewing's sarcoma: case report and literature review

Ewing's sarcoma is a round-cell tumor that arises most often in a medullary cavity. This neoplasm is uncommon in a subperiosteal location. We report a new case of a 12-year-old boy with a periosteal Ewing's sarcoma, located in the femur, who was treated by cortical segmental resection associated with chemotherapy. Two years after surgery the patient was free of disease. In reviewing the literature of 29 cases, it seems the prognosis is better in periosteal compared with intramedullary Ewing's sarcoma.     

肾脏未分化网状细胞肉瘤一例报告并文献复习

目的 探讨肾脏未分化网状细胞肉瘤(尤因肉瘤)的临床诊治及预后特点. 方法 肾尤因肉瘤患者1例,男,33岁.体检发现左肾肿物3d.B超检查见左肾实质下部占位病变,边界清楚,其内血流信号丰富.CT检查示左肾下极类圆形肿块,5.1 cmu×4.7 cm大小,平扫中等密度,内见多个小斑片状低密度区,增强扫描明显不均匀强化,静脉期强化明显,考虑为肾癌.行后腹腔镜下左肾根治性切除术,手术顺利.检索相关文献复习讨论. 结果 病理报告:左肾下极直径4.0 cm灰白色肿物,部分坏死,瘤细胞小圆形,较均匀一致,成片分布,胞界不清,胞质稀疏,细胞核大小较一致,可见核分裂象.免疫组化染色:Vimentin(+),CD99(+),PAS(+),WT-1(-).病理诊断为肾尤因肉瘤.术后化疗:短周期(环磷酰胺+长春新碱+吡柔比星,每天1次,连续2d),长周期(异环磷酰胺+依托泊苷,每天1次,连续6d),长短周期交替进行,共6个周期,周期间隔21 d.随访14个月未见复发. 结论 肾尤因肉瘤临床罕见,恶性程度高,生物学行为进展快,诊断主要依据病理组织学及免疫组化染色检查,治疗以手术切除加放、化疗为主,但预后不佳.     

Peripheral primitive neuroectodermal tumor associated with the anterior mandible: a case report and review of the literature.

Neuroectodermal tumors may arise in many places throughout the body including the diverse tissues of the head and neck. The primitive neuroectodermal tumor is a predominately neural, nonepithelial neoplasm similar to Ewing sarcoma. This article describes an 18-year-old female patient with a highly malignant peripheral primitive neuroectodermal tumor located in the soft tissue anterior to the mandibular symphysis. The clinical and radiographic presentation as well as the histopathology and immunohistochemistry of this rare entity is discussed. A review of the literature with respect to this tumor, as well as the current management of this tumor, is presented.     

Primary Ewing's sarcoma/primitive neuroectodermal tumor of the kidney: a clinicopathologic and immunohistochemical analysis of 11 cases

Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) is an extraordinarily rare primary tumor in the kidney and can be mistaken for a variety of other round cell tumors, including blastema-predominant Wilms' tumor (WT). Approximately 90% of ES/PNET have a specific t(11;22), which results in a chimeric EWS-FLI-1 protein. Immunohistochemistry for the carboxy-terminus of FLI-1 is sensitive and highly specific for the diagnosis of ES/PNET. WT-1, the WT-associated tumor suppressor gene, is overexpressed in WT but not in ES/PNET. No study has examined FLI-1 or WT-1 expression in renal ES/PNET. The clinicopathologic features of 11 renal ES/PNET were studied along with immunohistochemistry for cytokeratin, desmin, CD99, FLI-1, and WT-1. WT were also immunostained for CD99 (5 cases), FLI-1 (10 cases), and WT-1 (9 cases). The patients (6 men, 5 women) ranged from 18 to 49 years of age (mean, 34 yr). The mean tumor size was 11.8 +/- 3.8 cm (mean +/- standard deviation). Presenting symptoms included abdominal/flank pain and/or hematuria. Grossly, all tumors showed necrosis and hemorrhage, and 4 had cystic change. Microscopically, all tumors showed vaguely lobular growth, primitive round cells, and variable rosette formation. Epithelial, myogenous, or cartilaginous differentiation was not seen. Immunohistochemical results on the renal ES/PNET were cytokeratin (2/8 focal), desmin (0/9), CD99 (8/8), FLI-1 (5/8), and WT-1 (0/8). In comparison, the WT only rarely expressed CD99 (1/5) and did not express FLI-1 (0/10), but were usually WT-1-positive (7/9). Follow-up on 8 cases (mean, 28 mo; range, 6-64 mo) showed 4 lung and pleural metastases, 1 bone metastasis, liver metastasis, 2 local recurrences, and 5 deaths from disease (median time to death, 16.8 mo). No case had distant metastatic disease at presentation. Adjuvant therapy included chemotherapy (8 cases), radiation (3 cases), and bone marrow transplantation (1 case). Our study affirms a unique proclivity of renal ES/PNET for young adults and that it is a highly aggressive neoplasm, with rapid death in many cases, usually after the development of treatment-resistant lung metastases. These tumors must be distinguished from blastema-predominant WT and other primitive renal tumors that require different therapy. FLI-1 and WT-1 immunohistochemistry may be valuable in this differential diagnosis, given the known immunophenotypic overlap between ES/PNET and blastema-predominant WT with regard to CD99, cytokeratin, and desmin. The accurate distinction between these two entities has clear prognostic and therapeutic implications.     

肾上腺原始神经外胚叶肿瘤1例报告并文献复习

目的探讨肾上腺原始神经外胚叶肿瘤的临床表现、病理特点、治疗方法及预后。方法分析1例右侧肾上腺原始神经外胚叶肿瘤患者的病例资料并复习相关文献。结果手术根治切除肾上腺肿瘤,病理诊断为肾上腺原始神经外胚叶肿瘤,术后采取辅助大剂量放疗,半年后右侧腹壁肿瘤转移,再次手术切除转移灶,术后2月复查B超见右肾上腺区肿瘤复发,患者1年后死亡。结论肾上腺原始神经外胚叶肿瘤临床罕见,病理及免疫组化是原始神经外胚叶肿瘤确诊的金标准。手术是早期患者首选的治疗方法,晚期患者可以辅助联合化疗,对预后尚没有评估依据。     

Supratentorial primitive neuroectodermal tumor: report of a surgical case

We reported a rare case of supratentorial primitive neuroectodermal tumors (sPNET) and reviewed the literature. A 15-year-old girl presented with a one-month history of headache and vomiting. CT scans showed a huge, solid and cystic tumor with calcification, occupying the left anterior cranial fossa. The solid portion of the tumor was hypointense on T1-weighted images, slightly hyperintense on T2-weighted images, hyperintense on diffusion- weighted images, isointense on fluid-attenuated inversion recovery (FLAIR) images, and strongly enhanced after administration of contrast medium. The expansile tumor had a broad attachment to the dura matter of the anterior cranial fossa. The patient underwent an uneventful extirpation of the tumor. Microscopically, the solid tumor contained small, round poorly-differentiated cells with pleomorphic nuclei and brisk mitotic activity. The tumor cells were immunoreactive for synaptophysin and GFAP, whereas lack of MIC2 gene product expression was confirmed using the monoclonal antibody 12E7. The MIB-1-positive rate was 43%. The histological diagnosis was sPNET. Postoperatively, a dose of 30.6Gy was administrated to the whole brain and a boost of 19.6Gy to the T2-hyperintensity lesion. The patient successively received a dose of 30.4Gy to the whole spine and Linac stereotactic radiotherapy with a marginal dose of 16.8Gy at the tumor bed. Three months after radiotherapy the patient received chemotherapy using carboplatin and etoposide. Follow-up MR images showed no evidence of recurrent tumor 5 months after the radiochemotherapy. On the basis of MR findings on both diffusion-weighted and FLAIR images, preoperative diagnosis of sPNET may be important for choosing appropriate therapeutic strategies for this tumor.     

Renal Ewing’s sarcoma/primitive neuroectodermal tumor (PNET): a case series of 7 patients and literature review

BackgroundPrimitive neuroectodermal tumor (PNET) is a rare kind of sarcoma that is primarily found in the kidney and has a very poor prognosis. Here, we review and summarize the clinical data of patients with renal PNET in our center and follow up the patients for survival status. Although the current literature suggests that chemotherapy may benefit the survival of these patients, the information from our center suggests that this may not be the case.MethodsWe retrospectively analyzed the clinical data of patients with renal PNET diagnosed pathologically at Peking University First Hospital from January 1, 2007, to January 1, 2018. All of the patients were followed up for survival status.ResultsSeven patients with renal PNET were found. The ratio of males to females was 6:1. The median age was 29 years (21–72 years) at the time of diagnosis. The preoperative imaging examination showed a large renal mass protruding outwards from the renal contour, with internal necrosis and hemorrhage. Six/7 patients were diagnosed with distant metastasis or retroperitoneal lymph node metastasis. The main clinical manifestations of patients were pain (5/7) and fever (3/7). In immunohistochemistry, all patients’ samples were CD99 positive. All patients died in our follow-up, with an average overall survival (OS) of 12.09 months (1.90–26.77 months).ConclusionsAs a rare renal tumor, renal PNET has a propensity to occur in young males. Most patients have distant metastasis when they are diagnosed, and the prognosis is very poor. Effective treatments are urgently needed.     

椎管内外周型原始神经外胚层肿瘤1例报告

原始神经外胚层肿瘤(primitive neuroectodermal tumors,PNETs)是一组临床上罕见的发生于中枢神经系统和周围肌肉、骨骼等间叶组织、处于未分化阶段的具有多潜能分化能力的小细胞肿瘤。根据生长部位不同,分为中央型原始神经外胚层肿瘤(central PNETs,c PNETs)和外周型原始神经外胚层肿瘤(peripheral PNETs,p PNETs)。p P-     

Primitive neuroectodermal tumor. Ewing's sarcoma

Primitive neuroectodermal tumor is an extraordinarily rare primary tumor in the kidney and can be mistaken for a variety of other round cell tumors. It is important to recognize each of these entities, because each carries unique therapeutic and prognostic implications. However, accurate diagnosis of these tumors is hindered by their significant morphologic overlap and complicated by their rarity. These neplasm are highly aggressive that tend to recurence and to metastatize. Standard therapy combining surgery, chemotherapy, radiation and genetic therapy. We report a case of primitive neuroectodermal tumor of the kidney in a 50 year old female patient.     

腰椎管内原始神经外胚层瘤/尤文肉瘤1例报告

正原始神经外胚层瘤/尤文肉瘤(primitive neuroectodermal tumor/Ewing sarcoma,PNET/EWS)是一种罕见且高度恶性的肿瘤,起源于神经嵴衍生细胞,具有多向分化的功能~([1])。我院2017年收治1例腰椎管内PNET/EWS患者,报告如下。患者女,32岁。因"腰部疼痛伴双下肢麻木1个月"于2017年4月20入院。查体:L4、L5棘突附近叩痛、压痛阳     

Intradural spinal metastasis in Ewing's sarcoma: case report and review of the literature

Ewing's sarcoma is a rare primary osseous neoplasm of children and young adults. The use of radiotherapy and adjuvant chemotherapy has favorably influenced the outcome of patients and dramatically reduced the rate of local disease recurrence. However, distant metastasis, usually to the lung and skeletal system, continues to be a frequent preterminal event. Metastasis to the central nervous system is infrequent unless related to adjacent bone involvement. We report a case of intraneural, intradural metastasis in a young man with a previously treated Ewing's sarcoma of the ilium. Metastasis to this part of the nervous system has not been previously reported.     

Ewing's sarcoma and pregnancy. A case report and review of the literature

This is the fifth reported case of Ewing's sarcoma in pregnancy. Ewing's sarcoma seems to progress rapidly during pregnancy. Treatment should consist of therapeutic abortion followed by chemotherapy, radiation therapy, and surgery if discovered early in pregnancy. Controversy exists as to the treatment late in pregnancy. Chemotherapy during pregnancy has been suggested, but most authors think all consideration should be given to the fetus. Since maternal prognosis is so poor, the fetus should be taken by cesarean section as soon as pulmonary maturity can be documented by amniocentesis. The mother can then be treated appropriately.     

A primitive neuroectodermal tumor on the face: case report

In 1918, Stout defined the lesion in which small round cells originating from the ulnar nerve formed a rosette as neuroepithelioma. It was claimed that this tumor originated from neuroectodermis and was different from the classical neuroblastoma. The term primitive neuroectodermal tumor (PNET) involves a group of tumors of the soft tissue originating from neural crest and resulting from the brain, spinal cord and branches of the sympathetic nervous system. Extracranial primitive neuroectodermal tumors originate from neural crest cells outside the sympathetic and central nervous system. PNET also has some distinctive histological, immunohistochemical and ultrastructural features. It is usually encountered in children and young adults; most frequently located in thoracopulmonary region (Askin's tumor). The second most commonly involved body part is the extremities. It is very rarely located on the face. PNET is an aggressive tumor. In fact, the disease has a rapid progression, causes local or distant metastases and 50% of the patients die within two years of the presentation. It is treated with aggressive surgery as well as chemotherapy and radiotherapy. In this report, we presented a case of PNET located on the right cheek with multiple distant metastases. Clinicians should be on alert when treating facial tumors, not to skip PNET, which is a very aggressive one.     

Melanotic neuroectodermal tumor of infancy: review of literature and case report

Melanotic neuroectodermal tumor of infancy (MNTI) is an uncommon, fast-growing, pigmented neoplasm of neural crest origin. It primarily affects the maxilla of the infants during the first year of life. Approximately, a few hundred of these tumors have been reported in medical literature. We present a case of a newborn with MNTI involving the anterior maxillary region. The treatment included surgical excision of the lesion with safe margins, using an intraoral approach and removal of associated developing tooth buds. We made no attempt at immediate bone grafting. The patient had no recurrence at 1 year postoperatively. The diagnostic features and management alternatives of MNTI are discussed.     

Intracranial primitive neuroectodermal tumor in an infant: a case report

A 2-month-old girl with a supratentorial primitive neuroectodermal tumor (PNET), which extended into the skull, is herein presented. The patient underwent total removal of the tumor and also received a course of postoperative chemotherapy. After a follow-up period of 12 months, the infant is alive without recurrence. Histologically, the tumor was composed of poorly differentiated neuroectodermal cells, and these neoplastic cells showed a mild immunohistochemical reaction for GFAP and synaptophysin, and a moderate reactivity for neuron specific enolase and vimentin. In addition, a moderate level of immunoreactivity for HBA71 antigen (p30/32M1C2), which is the product of the M1C2 gene and is found in peripheral PNETs but not in central PNETs, was noted in many neoplastic cells. Although this tumor was located intracranially, it may be classified as a peripheral PNET.