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.     

Intracranial metastasis from a spinal cord primitive neuroectodermal tumor: case report.

A patient with intracranial seeding from a spinal cord primitive neuroectodermal tumor with ependymal differentiation is presented. The first and second stages of intracranial dissemination were well controlled by a combination of irradiation and chemotherapy. The authors review previously published cases and discuss the possible mechanism of seeding from the spinal cord to the intracranial region.     

Peripheral primitive neuroectodermal tumor after radiotherapy

A 41-year-old man had a peripheral neuroectodermal tumor develop at the distal third of the fibula 4 years after radiotherapy for relapsed villonodular synovitis. This type of sarcoma usually is classified into the heterogeneic group of small round-cell bone tumors as a subdivision of Ewing's sarcomas. The immuno-staining positivity of the neoplastic cells for the neuron-specific enolase allowed the authors to make the diagnosis of a tumor with neuroectodermal origin. When the histologic study confirmed the diagnosis, the patient was treated with chemotherapy, surgical excision of the tumor, and adjuvant radiotherapy. Radiotherapy is thought to be involved in the genesis of osteogenic sarcomas as it has been shown in several reports, but there is no evidence in the literature of a peripheral neuroectodermal tumor developing after radiotherapy.     

Peripheral primitive neuroectodermal tumor -- PNET

The authors describe three cases of peripheral primitive neuroectodermal tumor. The tumor was found in soft tissues of the crus, shoulder girdle and perineum, and was also located paravertebrally and epidurally at the level of L1-L2 vertebrae. Radiological findings were not specific for this disease. The results of imaging methods (sonography, CT, MRI, DSA) were important for the assessment of tumor size, its boundary and invasion of the surrounding tissues, and for the evaluation of tumor response to therapy and detection of recurrent disease. The PNET diagnosis was based on immunohistochemical, biochemical and cytogenetic examinations. One patient died 5 months after the first clinical signs were manifested; the two patients surviving for 2 and 1 3/4 years after first sign manifestation, respectively, remained in the care of cancer specialists. Key words: skeletal Ewing's sarcoma, extra-skeletal Ewing's sarcoma, Ewing's sarcoma family of tumors, peripheral primitive neuroectodermal tumor.     

Sacral intraspinal extradural primitive neuroectodermal tumor

Background contextIntraspinal primitive neuroectodermal tumors (PNETs) are an exceedingly rare entity. A recent literature research revealed 28 cases reported. Only a few tumors in the literature were extradural in location, in the cervical and thoracic spine. The average survival after combination treatment including chemotherapy, radiation, and surgical resection is 20 months for the cases reported in the literature.PurposeWe report a case of a patient with sciatica and cauda equine–like symptoms.Study designCase report.MethodsUrgent sacral decompression and resection of the tumor was performed with rapid pain relief for the patient.ResultsHistology revealed a sacral extradural small blue-cell tumor, consistent with ES/PNET family tumors. An oncological workup revealed that the tumor presentation was metastatic with pulmonary and abdominal nodules. The patient underwent combination chemotherapy with vincristine, doxorubicin, and cyclophosphamide with mesna for 4 months.ConclusionsThe patient was without disease after excision, two courses of 4-month chemotherapy, and one course of 5-week radiation to the sacrum at 2 years.     

Metastatic primitive neuroectodermal tumor to the kidney

Primitive neuroectodermal tumors of the kidney are rare neoplasms that may mimic renal cell carcinoma, especially in the presence of locally advanced or metastatic disease. Although several cases have been identified as primary renal tumors, this is the first report of metastatic spread of a primitive neuroectodermal tumor to the kidney.     

累及泌尿系统的外周原始神经外胚层肿瘤

目的探讨累及泌尿系统的外周原始神经外胚层肿瘤(pPNET)的临床特点、免疫组化特点和诊断标准，提高pPNET的诊治水平。方法回顾分析7例累及泌尿系统的pPNET患者临床资料，其中6例行肿瘤根治性切除术，1例前列腺pPNET术中发现肿瘤已侵犯膀胱颈部和直肠前壁，仅行活检术。结果7例术后病理和免疫组化检查均诊断为pPNET。围手术期无患者死亡，7例患者随访4～26个月，平均12个月，1例术后5个月死于肿瘤远处转移和肾功能衰竭。结论泌尿系统pPNET是一种好发于年轻男性的恶性肿瘤，病变进展迅速，确诊依靠病理，预后较差，但发病早期根治性手术仍有较大的治疗意义。     

Peripheral primitive neuroectodermal tumor of the thymus

Peripheral primitive neuroectodermal tumors (pPNET) are an extremely rare disease entity of malignant tumors belonging to the Ewing sarcoma family that usually occur in children and adolescents with a predilection for the truncal and axial soft tissue. Thoracopulmonary manifestation in children mostly involves the chest wall as a large tumorous mass or the posterior mediastinum. In adults these tumors are even more infrequent. We report about a 46-year-old woman with a pPNET of the thymus which infiltrated the pericardium. According to the English literature this is the first reported case both of a thymic pPNET and a pPNET arising in the anterior mediastinum. This illustrates that pPNETs belong to the differential diagnosis of neurogenic mediastinal malignancies not only in the pediatric age population but also in adults and even in so far unknown localizations like the anterior mediastinum.     

Germ cell tumor associated primitive neuroectodermal tumors

PURPOSE: This retrospective review was done to assess the prognosis and response in patients presenting with primitive neuroectodermal tumor admixed with germ cell tumor. MATERIALS AND METHODS: Of the 40 patients treated at our institution from 1984 to 1999, 15 had initial stage I and 25 had initial metastatic disease. Median followup after the diagnosis was 25 months (range 4 to 142). RESULTS: Of the 40 patients 15 presented with clinical stage I disease, including 9 treated with retroperitoneal lymph node dissection and 6 who elected surveillance. Seven of the 9 patients had normal lymph nodes and all continuously had no evidence of disease. Two of the 9 patients had lymph nodes involved with teratoma with or without primitive neuroectodermal tumor. Retroperitoneal relapse in 5 of the 6 patients on surveillance was treated with cisplatin based chemotherapy followed by post-chemotherapy retroperitoneal lymph node dissection. Residual primitive neuroectodermal tumor was noted in 4 of the 5 patients and only 3 of 6 are currently without disease at a median followup of 17 months (range 15 to 69). A total of 25 patients presented with metastatic disease, of whom 23 underwent cisplatin based chemotherapy. Only 3 patients achieved complete remission with chemotherapy alone and 2 of the 3 subsequently relapsed. Of the remaining 20 patients 16 underwent post-chemotherapy retroperitoneal lymph node dissection, including 11 with primitive neuroectodermal tumor in the resected specimen. Two of these 11 patients have continuously had no evidence of disease, while an additional 3 currently have no evidence of disease after further therapy. Teratoma was present in the resected specimen in 5 of 16 patients, of whom 2 have continuously had no evidence of disease, while an additional 2 currently have no evidence of disease after further surgical resection. Therefore, 11 of 25 patients who presented with metastatic disease currently have no evidence of disease at a median followup of 19 months (range 2 to 111). CONCLUSIONS: Primitive neuroectodermal tumor in the orchiectomy specimen has adverse prognostic significance. This condition in the retroperitoneum is potentially curable by retroperitoneal lymph node dissection but rarely eradicated by chemotherapy. Therefore, we recommend retroperitoneal lymph node dissection for all clinical stage I cases with primitive neuroectodermal tumor in the orchiectomy specimen. Patients who present with metastatic primitive neuroectodermal tumor should be treated aggressively with surgical resection as an integral part of the therapeutic strategy.     

Organ-confined primitive neuroectodermal tumor arising from the kidney

Primitive neuroectodermal tumor (PNET) of the kidney is a rare entity with high malignant potential. Of the reported cases of renal PNET, patients presented with metastatic disease and had a poor response to therapy. The authors describe a rare case of an organ-confined primary PNET arising from the kidney in a 16-year-old girl who presented with vague abdominal pain. Tumor behavior and treatment modalities are discussed.     

Case of primitive neuroectodermal tumor of the kidney

A 28-year-old woman presented with right flank pain. A large, firm, fixed mass was palpable in the right side of the abdomen. Computed tomography revealed a solid mass of the right kidney with extension into the renal vein and inferior vena cava. The patient underwent right radical nephrectomy with en bloc resection of the inferior vena cava containing tumor thrombus and right adrenalectomy. Histologically the tumor consisted of small tumor cells with rosette formation. Immunohistochemical staining was positive for CD99 and NSE. Analysis with polymerase chain reaction (PCR) demonstrated the EWS/FLI1 fusion products resulting from a chromosomal translocation. These findings were consistent with primary renal primitive neuroectodermal tumor (PNET). Two months after surgery, multiple lung, liver and lymph node metastases were found. The patient received 2 cycles of chemotherapy with cisplatin, ifosfamide, etoposide, resulting in a partial remission. She subsequently received 1 cycle chemotherapy with paclitaxel and carboplatin, resulting in no response. The metastatic lung and liver diseases progressed and she died 5 months after diagnosis.     

脊柱原始神经外胚叶肿瘤的诊断与治疗

目的 总结脊柱原始神经外胚叶肿瘤(primitive neuroectodermal tumor,PNET)的诊断和治疗经验.方法 回顾性分析1999年至2009年收治的PNET患者共13例,男8例,女5例.年龄4～43岁,平均(26.9±11.1)岁.肿瘤累及颈椎6例,腰椎5例,胸椎1例,骶椎1例.9例为手术后依据病...     

The primitive neuroectodermal tumor of the heart.

A young man was admitted to hospital with dyspnea, malaise, chest pain and night sweating. Investigative studies revealed a cystic mass lesion originating from the heart. Surgical exploration of the tumor showed that it was unresectable and pathology of the biopsy material was primitive neuroectodermal tumor. Medical literature concerning this unusual type of tumor is reviewed.     

肾外周原始神经外胚层肿瘤一例报告

正外周原始神经外胚层肿瘤(peripheral primitive neuroectodermal tumor,pPNET)累及肾脏者临床罕见,多发生于儿童及青壮年,其组织病理及免疫组化、遗传特征等有特征性表现,预后较差,易误诊为肾细胞癌,确诊依靠术后病理。现报道我院诊治的1例肾p PNET,并结合相关文献进行分析。临床资料患者男性,38岁,于2014年4月因"左腰部不适伴发热、乏力1个月"就诊,无肉眼血尿。查体:左上腹脐上2横指可扪及肿物。彩超提示左肾回声不均实性肿物。CT平扫+强化示左肾下极直径12 cm的囊实性占位,     

Supratentorial primitive neuroectodermal tumor in an aged patient--case report--

An 88-year-old woman presented with a supratentorial primitive neuroectodermal tumor (PNET) manifesting as disturbance of consciousness and left hemiplegia. Magnetic resonance imaging showed a large mass lesion in the right frontotemporal region. She underwent biopsy of the lesion that confirmed the diagnosis of PNET. Her poor condition only allowed chemotherapy with methyl 6-[3-(2-chloroethyl)-3-nitrosoureido]-6-deoxy-alpha-D-glucopyranoside (MCNU), vincristine, and prednisolone to be performed. The patient died approximately 6 months after diagnosis due to enlargement of the tumor. Supratentorial PNET is a rare tumor, especially in adults. Multimodal therapy consisting of gross total or subtotal resection, radiation therapy, and chemotherapy is generally considered necessary for patients with supratentorial PNET. However, the condition of each patient should be considered in determining the therapeutic plan, especially in the case of extremely aged patients, since supratentorial PNET is malignant and long-term survival is rare despite aggressive treatment.     

Renal primitive neuroectodermal tumor in childhood with intracardiac extension

Primary primitive neuroectodermal tumors of the kidney are exceptionally rare and usually affect children and young adults. We report the first pediatric case of renal primitive neuroectodermal tumor presenting with tumor extension along the inferior vena cava to the right ventricle. This case highlights that when considering a renal tumor with significant intravascular extension in the pediatric age group, although the most likely diagnosis remains Wilms tumor, other rare entities may also demonstrate similar clinical and imaging features.     

泌尿系统原发性原始神经外胚层瘤临床病理分析

目的 探讨泌尿系统原发性原始神经外胚层瘤(primitive neuroectodermal tumor,PNET)的临床病理特征、免疫学表型、治疗方法及预后.方法 回顾性分析3例泌尿系统原发性PNET患者资料.3例均为男性,年龄分别为29、32和75岁.2例原发于肾脏,1例原发于膀胱.2例肾肿瘤大小分别为7.7 cm×6.2 cm和12.6 cm×9.4 cm,影像学检查提示肿瘤边界尚清,内部回声欠均匀.膀胱肿瘤大小为10.0 cm×10.0 cm,影像学检查提示膀胱壁不规则增厚,其内密度不均匀.2例肾肿瘤行肿瘤根治术,膀胱肿瘤行血块取出术及肿瘤活检术.结果 光镜下,瘤细胞为形态一致的小圆形或卵圆形,被纤维结缔组织分隔成实性片状或巢状,并形成假菊形团或Homer-Wright菊形团,核分裂象多见.免疫组化标记:3例肿瘤CD99、突触素和波形蛋白均为阳性.1例肾肿瘤Ki67阳性率＜5%,另1例80%阳性.3例病理诊断均为PNET.例1肾肿瘤患者未行化疗,于术后14个月复发死亡;例2肾肿瘤及例3膀胱肿瘤患者术后予以化疗,分别于术后4、6个月死亡.结论泌尿系统原发性PNET是一种少见的高度恶性软组织肿瘤,诊断主要依据病理形态学特征及免疫组化标记.目前治疗方法主要是手术加放、化疗.

Abstract：

Objective To explore the clinico-pathological features, immunophenotype, treatment and prognosis of urologic primary primitive neuroectodermal tumor (PNET). Methods The clinical data of 3 patients with urologic PNET were analyzed retrospectively. All patients were male, aged 29, 32 and 75 years respectively. Two of the lesions were located in the kidney, and the third was located in the bladder. The sizes of renal tumors were 7.7 cm×6.2 cm and 12.6 cm×9.4 cm respectively. Imaging examinations revealed a well-defined mass with inhomogeneous echo inside. The size of bladder tumor was 10.0 cm×10.0 cm. CT scan demonstrated irregular thickening of the bladder wall, and the density of the wall was inhomogeneous. In the 2 cases of renal PNET radical surgery was performed, while an emergency palliative surgery to remove a blood clot and biopsy were performed in the bladder PNET case. Results In light microscope, the tumors were characterized by uniform small round or oval cells and nest-like or dense sheet structures surrounded by sparse fibrovascular stroma. Homer-Wright rosettes or pseudorosettes were observed, as well as mitoses. Immunohistochemical study revealed that all cases showed positive staining for CD99, synaptophysin and vimentin. One of the renal tumor cells showed positive for CD56, and the other renal tumor and urocystic tumor cells were focally positive for chromogranin A. Additionally, in 1 of the cases of renal tumor there was a high positive rate of 80% for Ki67 staining while the other case showed less than 5%. All 3 cases were eventually diagnosed as PNET. The first renal tumor case was not treated with radiotherapy and chemotherapy postoperatively, and the patient died of recurrence 14 months after surgery. Both the second renal tumor case and the bladder tumor case underwent chemotherapy postoperatively, and they died 4 and 6 months after surgery respectively. Conclusions The urologic primary PNET is a very rare, highly malignant soft tissue tumor, and the diagnosis must be based on pathologic findings and immunohistochemical phenotypes. The multimodal treatment for urologic primary PNET consists of surgery, chemotherapy and radiotherapy.