Desmoplastic supratentorial neuroepithelial tumors of infancy with divergent differentiation potential ("desmoplastic infantile gangliogliomas"). Report on 11 cases of a distinctive embryonal tumor with favorable prognosis

Eleven cases of supratentorial neuroepithelial tumor presenting in infancy are reported. The tumors were characterized by their voluminous size, their intense desmoplasia, and the frequent presence of divergent astrocytic and ganglionic differentiation as demonstrated by special neurohistological and immunohisto- and immunocytochemical techniques. All the tumors presented in subjects below the age of 18 months, usually within the first 4 months of life. They most often involved the frontal and parietal regions and were composed predominantly of a dense desmoplastic tissue superficially resembling a moderately cellular fibroma. The fibroblastic elements were admixed with variable numbers of pleomorphic neuroepithelial cells. Divergent astrocytic and neuronal differentiation was demonstrable in nine of the 11 tumors. All showed astrocytic differentiation. The study of one example by electron microscopy, immunocytochemistry, and tissue culture disclosed that the astrocytic tumor cells were partly invested by a pericytoplasmic basal lamina. Successful total or near-total surgical resection has been followed by a favorable postoperative course extending in some cases over many years of tumor-free survival. The name "desmoplastic infantile ganglioglioma" is proposed for this apparently distinct clinicopathological entity, whose massive size is indicative of a pre- or perinatal origin. Its identification can be achieved by careful histological analysis and is of obvious prognostic significance.     

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.     

Intraabdominal desmoplastic small-cell tumors with divergent differentiation. Observations on three cases of childhood

We studied three intraabdominal tumors that manifested in childhood and were attached to peritoneum, and in which the histologic pattern suggested metastatic tumor of epithelial nature but gave no evidence of a primary neoplasm in the major abdominal organs. Follow-up observation lasted from 1 to 6 years but never disclosed a primary site. Histologic, immunohistochemical, and electronmicroscopic observations indicated a primitive malignant neoplasm of uncertain histogenesis capable of simultaneously expressing epithelial, mesenchymal, and, less consistently, neural phenotypes. In childhood, the possibility of embryonic neoplasm, such as nephroblastoma occurring in atypical sites, is difficult to exclude. Despite the prevailing uncertainty about histogenesis, combined therapy achieved an apparent cure in one of our cases.     

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.     

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.     

Clinicopathological study of supratentorial tumors with multipotential differentiation in childhood. Primitive neuroectodermal tumor

Three cases of supratentorial tumor in childhood were studied clinico-pathologically in an attempt to clarify its histological character. Case 1: A 3-year-old boy. Carotid angiogram revealed avascular lesion in the left parietal lobe. Twice operations and radiotherapy were performed. Ten months after the second operation, he died. Surgical specimen at the first operation was composed mainly of round tumor cells. The tumor tissue contained many collagen fibers. At the periphery of this tissue, medulloblastomatous areas consisting of closely aggregated hyperchromatic small round cells were found. There were perivascular rosettes and Homer Wright rosettes. In part, tubular and papillary arrangement of cells was also present. Astrocytomatous and oligodendrogliomatous structures were also present. Surgical specimens at the second operation showed the predominance of sarcomatous areas consisting of spindle-shaped cells with abundant argyrophilic fibers. Case 2: A 10-year-old girl. CT scan revealed a heterogeneous enhanced mass with a cyst and calcification in the right parietal lobe. Operation and radiotherapy were performed. Twelve months after operation, she is still alive. Most of the surgical specimens showed sarcomatous structure with abundant argyrophilic fibers. In these tissues, there were medulloblastomatous and ependymomatous features. Papillary arrangement of cells was also present. In part, there was oligodendrogliomatous structure. Case 3: A 2-year-old girl. CT scan revealed a heterogeneous enhanced mass in the right frontal lobe. The tumor tissue was composed of an aggregation of undifferentiated small round cells with Homer Wright rosettes.(ABSTRACT TRUNCATED AT 250 WORDS)     

Desmin positivity in primitive neuroectodermal tumors of childhood.

In this report, we describe two rosette-forming primitive neuroectodermal tumors that were found to contain desmin by both immunohistochemistry and Western blotting. Electron microscopy on both cases was consistent with primitive neuroectodermal tumors and revealed that the tumor cells contained cytoplasmic bundles of intermediate filaments. In both cases, studies for MyoD1 protein using immunohistochemistry and Western blotting were negative. Thus, the detection of desmin in a pediatric neoplasm does not absolutely exclude the diagnosis of primitive neuroectodermal tumor and should not be considered as prima facie evidence that a small-cell tumor is a rhabdomyosarcoma.     

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.     

Metastatic primitive neuroectodermal tumor of the kidney in adults.

OBJECTIVE: Primitive neuroectodermal tumors (PNET) of the kidney are rare and highly aggressive malignancies. The purpose of our study was to present information about the management of patients with metastatic disease. METHODS: The records of 2 patients (30-year-old female and 32-year-old male) with metastatic PNET of the kidney were reviewed and our data compared with the literature. RESULTS: Neither clinical evaluation nor radiological methods allowed to distinguish PNET from renal cell carcinoma. Immunohistochemistry revealed strong positivity for CD99 in tumor 1 and weak positivity for NSE and vimentin in both tumors. In tumor 2, EWS/FLI1 translocation was detected by RT-PCR. Patient 1 underwent nephrectomy, seven cycles of polychemotherapy, two cycles of high-dose chemotherapy, autologous bone marrow rescue, radiotherapy of suspicious skeletal foci and is without evidence of recurrent disease 28 months after therapy. Patient 2 underwent six cycles of polychemotherapy, nephrectomy, high-dose chemotherapy with cyclophosphamide and abdominal radiotherapy. Because of relapse high-dose chemotherapy with stem cell rescue was not performed. He underwent three further cycles of polychemotherapy and died one year after diagnosis due to cerebral metastasis. CONCLUSIONS: The diagnosis of renal PNET must be considered in young patients with renal neoplasm, particularly those with advanced disease at presentation. Achieving exact diagnosis has important clinical consequences because polychemotherapy and high-dose chemotherapy may lead to dramatic tumor reduction or even complete remission.     

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.     

Embryonal tumors with abundant neuropil and true rosettes: a distinctive CNS primitive neuroectodermal tumor

Embryonal neoplasms of the central nervous system (CNS) generally arise in the early years of life and behave in a clinically aggressive manner, but vary somewhat in their microscopic appearance. Several groups have reported examples of an embryonal tumor with combined histologic features of ependymoblastoma and neuroblastoma, a lesion referred to as "embryonal tumor with abundant neuropil and true rosettes" (ETANTR). Herein, we present 22 new cases, and additional clinical follow-up on our 7 initially reported cases, to better define the histologic features and clinical behavior of this distinctive neoplasm. It affects infants and arises most often in cerebral cortex, the cerebellum and brainstem being less frequent sites. Unlike other embryonal tumors of the CNS, girls are more commonly affected than boys. On neuroimaging, the tumors appear as large, demarcated, solid masses featuring patchy or no contrast enhancement. Five of our cases (18%) were at least partly cystic. Distinctive microscopic features include a prominent background of mature neuropil punctuated by true rosettes formed of pseudo-stratified embryonal cells circumferentially disposed about a central lumen (true rosettes). Of the 25 cases with available follow-up, 19 patients have died, their median survival being 9 months. Performed on 2 cases, cytogenetic analysis revealed extra copies of chromosome 2 in both. We believe that the ETANTR represents a histologically distinctive form of CNS embryonal tumor.     

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.     

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.     

Peripheral-type primitive neuroectodermal tumor arising in the tentorium. Case report.

The authors report the case of a peripheral primitive neuroectodermal tumor (PNET) arising in the tentorium in a 5-year-old boy who presented with frequent vomiting and mild palsy of the left abducent nerve. Following complete surgical excision of the tumor via a transpetrosal approach, the patient has thus far been disease free for 7 years. The tumor tissue was composed of small cells with uniform round nuclei and minimal identifiable cytoplasm. Homer-Wright rosettes were frequently observed. Immunohistochemical studies demonstrated a positive reaction to HBA-71, which recognizes the cell surface glycoprotein p30/32, a product of the MIC2 gene. Both the clinical and immunohistochemical characteristics of this tumor are consistent with a diagnosis of peripheral PNET, which is genetically distinct from the more common intracranial PNET.     

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...     

Intramedullary primitive neuroectodermal tumor presenting with rapidly-progressive cauda equina syndrome

A 39-year-old male presented with gait disturbances with rapid deterioration for 2 weeks. Neurological examination found paraparesis, sensory loss in the L1-S5 dermatomes, and vesicorectal dysfunction. Magnetic resonance (MR) imaging revealed a fusiform intramedullary tumor at T12-L1 levels with heterogeneous enhancement. The patient underwent microsurgical tumor resection. A myelotomy exposed a highly vascular tumor that was subtotally resected. Histological examination demonstrated hypercellular tumor accompanied by significant cell atypism and mitotic figures. Immunohistochemical staining was positive for glial fibrillary acidic protein, S-100 protein, synaptophysin, and INI-1, consistent with primitive neuroectodermal tumor (PNET). Postoperatively, the patient underwent irradiation to the whole craniospinal axis. He experienced local recurrence 7 months after surgery. MR imaging performed at 10 months revealed holocord progression and intracranial dissemination. The patient died 13 months after the onset of the disease. PNET should be considered in the differential diagnosis of an intramedullary spinal cord tumor.     

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,