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Results for “Neuroectodermal Tumors”

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At least 19 recordsLinked to original sources
PubMed2001

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.

Adolescent↗
PubMedDate not supplied

Primary cerebral neuroectodermal tumors: neuroblastoma, differentiated neuroblastoma, and composite neuroectodermal tumor.

Seven cases of primary cerebral neuroectodermal tumors with predominant neuroblastic features were studied ultrastructurally and five were evaluated immunohistochemically. The fine structural features were indicative of neuroblastic differentiation by the presence of elongated cytoplasmic processes, electron-dense neurosecretory granules, and neurotubules. Five of the seven cases had the morphologic findings of classic cerebral neuroblastoma, and the sixth case, originally diagnosed as an oligodendroglioma, had the features of a differentiated neuroblastoma. Desmoplastic and/or stromal foci were intermingled with neuronal-ganglionic cells and neuroblasts in the seventh case. In addition to strong immunoreactivity for S-100 protein and glial fibrillary acidic protein in the desmoplastic areas, the spindle cells had fibroblastic and Schwannian features by electron microscopy in the latter case. The neuroblastic cells and fibrillary network were immunoreactive for neuron-specific enolase and neurofilament in the five study cases. It is concluded that cerebral neuroectodermal tumors may express an range of phenotypic features from the exclusive neuroblastic stage to a neuronal and stromogenic phase analogous to the classic neuroblastoma of the sympathetic nervous system.

Adult↗
PubMed1994

Multiple primitive neuroectodermal tumors.

Primitive neuroectodermal tumors are rare, highly aggressive neoplasms that affect both sexes and occur in all age groups. They are a large group of neoplasms with neuroepithelial differentiation, including cutaneous neuroblastomas. Histopathologically they are characterized by a rather uniform population of small, dark cells, with or without Homer Wright rosettes. Immunohistochemically they stain for one or more of the reputed neural markers. Ultrastructurally they show interdigitating processes containing neurosecretory granules, intermediate filaments, and microtubules. We describe a patient with unusual multiple peripheral neuroectodermal tumors localized to the skin, with benign biologic behavior. The patient related the appearance of new lesions for several years without evidence of visceral dissemination or systemic complications. The histopathologic, immunohistochemical, and ultrastructural findings support the diagnosis of a peripheral neuroectodermal tumor.

Diagnosis, Differential↗
PubMed2004

Gene expression profiling of early- and late-relapse nonseminomatous germ cell tumor and primitive neuroectodermal tumor of the testis.

PURPOSE: To better understand the molecular mechanisms that underlay the development and progression of nonseminomatous germ cell tumor of testis (NSGCTT) as well as malignant transformation of teratoma and primitive neuroectodermal tumor (PNET). EXPERIMENTAL DESIGN: We studied the gene expression profiles of 17 retroperitoneal NSGCTTs (10 yolk sac tumors, 3 embryonal carcinomas, 4 teratomas) and 2 PNETs obtained from patients with two clinical outcomes. Tissue samples were obtained from the Indiana University. One group of NSGCTT and PNET patients developed metastases within 2 years (early-relapse) of initial successful treatment, and the other group developed metastases after 2 years (late-relapse). Gene expression in these groups of patients was quantified using cDNA microarrays and real-time relative quantitative PCR. RESULTS: We demonstrate that the gene expression profiles of these tumors correlate with histological type. In addition, we identify type-specific genes that may serve as novel diagnostic markers. We also identify a gene set that can distinguish between early-relapse and late-relapse yolk sac tumors. The expression differences of these genes may underlie the differences in clinical outcome and drug response of these tumors. CONCLUSION: This is the first study that used gene expression profiling to examine the molecular characteristics of the NSGCTTs and drug response in early- and late-relapse tumors. These results suggest that two molecularly distinct forms of NSGCTTs exist and that the integration of expression profile data with clinical parameters could enhance the diagnosis and prognosis of NSGCTTs. More importantly, the identified genes provide insight into the molecular mechanisms of aggressive NSGCTTs and suggest intervention strategies.

Cell Transformation, Neoplastic↗
PubMed1993

In vivo metabolism of childhood posterior fossa tumors and primitive neuroectodermal tumors before and after treatment.

BACKGROUND: Despite an increasing interest in the clinical application of positron emission tomography (PET) in tumors of the adult patient as a diagnostic and prognostic tool, only a few studies have been concerned with the usefulness of PET with [18F]2-deoxy-2-fluoro-D-glucose (FDG) in childhood tumors. METHODS: Fifteen children and young adults (0.5-26.0 years of age) with histologically confirmed brain tumors were studied with PET and FDG. Seven children with medulloblastoma (n = 5) or primitive neuroectodermal tumor (PNET) (n = 2) underwent repeated PET studies during their therapy. The other eight children with medulloblastoma (n = 5) or astrocytoma (n = 3) were studied only once before initiation of treatment. A close clinical follow-up was performed in every case. RESULTS: Comparison of local glucose metabolic rates obtained in the various tumor lesions revealed that the mean rates found in medulloblastomas (mean glucose metabolic rate, 42.8 +/- 14.03 mumol/100 g/min) were twice as high as the rates measured in either PNET (17.3 +/- 4.5 mumol/100g/min) or infratentorial gliomas (21.8 +/- 4.2 mumol/100g/min). The high metabolism of medulloblastomas enabled the observer to identify the tumor more easily and to clearly separate it from the surrounding unaffected brain tissue. In the seven patients with follow-up PET studies during therapy, decreasing or increasing ratios of tumor-to-white matter metabolic rate were not only commensurate with neuroradiologically defined tumor reduction or growth, but also corresponded to the duration of initial clinical improvement. CONCLUSIONS: These preliminary results suggest that PET with FDG may be a useful tool to evaluate metabolic activity of pediatric brain tumors over time and to assess response to treatment.

Adolescent↗
PubMed2002

Primitive neuroectodermal tumor (PNET) in the differential diagnosis of malignant kidney tumors.

Primitive neuroectodermal tumors (PNETs) of the kidney, a rare neoplastic disease of high malignancy with a tendency towards early metastasis, affect young adults (26-30 years) irrespective of the gender. Differential diagnosis from other renal tumors is very important for an effective therapy. Herein, we report on a 24-year-old male patient with a renal tumor consisting of small, round cells, and summarize the diagnostic procedures that establish the diagnosis of PNET. Light microscopy revealed not only areas containing small, round cells forming rosettes and pseudorosettes, but also areas containing spindle cells. Expression of CD 99 in combination with neural markers, such as NSE, was detected by immunohistochemistry, and further evidence of neural differentiation was provided by electron microscopy. Image cytometry revealed a peridiploid DNA-stemline. A reciprocal translocation of the chromosomes 11 and 22 [t(11;22)(q24;q12)] with expression of a EWS/FLI-1 fusion transcript was demonstrated by molecular pathology. Using these methods, the diagnosis of PNET was firmly established, and the tumor was treated by surgical resection and subsequent adjuvant chemotherapy. Eighteen months after therapy, the patient is in excellent health condition without any evidence of tumor recurrence.

Adult↗
PubMed2006

Precocious puberty because of a pancreatic neuroectodermal tumor.

Primitive neuroectodermal tumors (PNETs) are uncommon, representing approximately 1% of all sarcomas. Pancreatic PNETs have been reported only 12 times in the literature. This report presents the first case of a patient with a PNET exhibiting precocious puberty. The clinical presentation, surgical management, and pathology of this rare pancreatic PNET found in a 2-year-old girl with precocious puberty are discussed.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2003

Mediastinal T-cell lymphoma in a boy 7 years after treatment of supratentorial primitive neuroectodermal tumor.

Medulloblastoma/primitive neuroectodermal tumor (PNET) is one of the most common central nervous system tumors in children and requires aggressive multimodality therapy. The authors describe a patient who developed mediastinal T-cell lymphoma 7 years after treatment of supratentorial PNET. Despite a good tumor response, the patient died during induction therapy because of invasive pulmonary aspergillosis. The authors conclude from this case that patients treated for medulloblastoma/PNET should be followed carefully for years. In addition, patients with second malignancies should be considered as a high-risk population for opportunistic infections.

Aspergillosis, Allergic Bronchopulmonary↗
PubMed2001

Alternative EWS-FLI1 fusion gene and MIC2 expression in peripheral and central primitive neuroectodermal tumors.

Primitive neuroectodermal tumors (PNET) occur either in the central nervous system (CNS; central PNET, cPNET) or in the peripheral sites (peripheral PNET, pPNET). Recent molecular approaches have been defining a new concept of PNET, that is, the pPNET including Ewing's sarcoma (ES) which expresses MIC2 glycoprotein and shows the specific chimeric gene of EWS-FLI1. The expression of MIC2 and the genetic rearrangement of EWS-FLI1 are considered to be highly specific to the pPNET/ES. This study examined the expression of MIC2 and EWS-FLI1 gene by means of immunohistochemistry and reverse transcriptase-polymerase chain reaction (RT-PCR) on various small round cell tumors originating in the CNS or non-CNS organs. All peripheral PNET tested expressed MIC2 and were positive for EWS-FLI1 (11/11). In contrast, all cPNET and other blastic CNS tumors were negative for MIC2: medulloblastoma (0/3), cerebral PNET (0/2), spinal PNET (0/2), glioblastoma (0/2), retinoblastoma (0/3), and pineoblastoma (0/2). These MIC2-negative tumors were also negative for the chimeric gene product of EWS-FLI1. Interestingly, one PNET originating in the intracranial dura mater was positive for both MIC2 and EWS-FLI1 fusion gene. The results indicate that cPNET lacks any genetic or protein markers, except for a meningeal PNET which falls into the same phenotypic spectrum of pPNET.

12E7 Antigen↗
PubMed1994

Expression of N-myc, c-myc and c-erbB-1 proto-oncogenes in cerebral primitive neuroectodermal tumors (PNET).

Neuroectodermal tumors demonstrate a relatively high incidence of proto-oncogenes amplification. This study attempted to determine the frequency of overexpression of three genes: N-myc, c-myc and c-erbB-1, in human PNET. Immunohistochemical studies revealed 5 to 74% neoplastic cells with positive immunoreactivity to anti-c-myc antibody in all investigated samples. In 3 cases the reactivity was particularly strong and present in more than 50% of tumor cells. Northern blot analysis revealed normal (2.3-kb in size) but significantly higher level of c-myc transcripts in these cases. By using anti-EGFR antibody 3 tumors disclosed 10 to 65% neoplastic cells with positive immunoreactivity. There was no rearrangement detected of their c-erbB-1 or N-myc genes by means of applied methods. Our results suggest that overexpression of c-myc gene is present in 10% of PNET but it is not the consequence of gene amplification. Amplification of N-myc and c-erbB-1 are rare events during PNET development.

Brain Neoplasms↗
PubMed2003

Primitive neuroectodermal tumor of the pancreas. A case report of an extremely rare tumor.

Primitive neuroectodermal tumor (PNET) of the pancreas is extremely rare. Although the diagnosis of PNET is suggested by the light microscopic appearance of the tumor, it should be confirmed by the immunohistochemical evaluation of the c-myc expression and if possible, further determination of the particular chromosome translocation, t(11;22)(q24,q12). In this report, we present a male patient with pancreatic PPNET who had been followed up for 50 months. The related literature is also reviewed. In our case, the pathologic diagnosis was based on the positive immunoreactivity for CD99 in many of the tumor cells. The complementary cytogenetic studies were not possible in the private setting of the patient's treatment. The patient was 31 years old when first operated. Within 4 months of the first operation he had local recurrence. In the third year of his follow-up he had been discovered to have pulmonary metastases and another metastatic tumor in his lung was diagnosed the year after. The metastatic foci were primarily treated by surgical resections. He had chemotherapy after each resection of pulmonary metastatic foci. After 50 months of the initial surgical intervention, he succumbed to widespread thoracic and bone metastases. Because of the extreme rarity of PPNET in the pancreas, and its rather protracted course, we think our case may further contribute to the ever expanding database for this particular entity.

12E7 Antigen↗
PubMed2001

Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors.

Primitive neuroectodermal tumors (PNETs) represent the most frequent malignant brain tumors in childhood. The majority of these neoplasms occur in the cerebellum and are classified as medulloblastomas (MB). Most PNETs develop sporadically; however, their incidence is highly elevated in patients carrying germline APC gene mutations. The APC gene encodes a central component of the WNT/wingless developmental signaling pathway. It regulates the levels of cytoplasmic beta-catenin protein that plays a central role in neural development and cell proliferation. We analyzed 87 sporadic PNETs and 10 PNET cell lines for mutations of the APC gene and beta-catenin (CTNNB1) gene using single strand conformational polymorphism (SSCP) and sequencing analysis. We examined the mutation cluster region of APC (codons 1255--1641) for germline variants and somatic mutations. The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution. Mutational analysis of exon 3 of CTNNB1 uncovered 4 PNETs (4.8%) with somatic missense mutations. These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val). All mutations affected GSK-3 beta phosphorylation sites of the degradation targeting box of beta-catenin and resulted in nuclear beta-catenin protein accumulation. Deletions of CTNNB1 were not detected by PCR amplification with primers spanning exons 1--5. Our data indicate that inappropriate activation of the WNT/wingless signaling pathway by mutations of its components may contribute to the pathogenesis of a subset of PNETs.

Adenomatous Polyposis Coli Protein↗
PubMed2008

A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor.

A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition.

Adult↗
PubMed1997

Ewing's sarcoma and primitive neuroectodermal tumor in adults: are they different from Ewing's sarcoma and primitive neuroectodermal tumor in children?

PURPOSE: To determine whether age at diagnosis influences the behavior of Ewing's sarcoma and primitive neuroectodermal tumor (PNET). PATIENTS AND METHODS: We reviewed the clinical features, treatment, and outcome of 59 consecutive patients with Ewing's sarcoma and PNET treated on the Adult Sarcoma Unit at our institution from 1980 to 1995. RESULTS: The 37 male and 22 female patients had a median age of 24 years. Lower limb was the most common primary tumor site. Fifteen patients had nonmetastatic tumor less than 100-mL volume, 27 had nonmetastatic disease greater than 100-mL volume, and 17 had evidence of metastatic disease at presentation. The origin of the primary tumor was soft tissue in 28 cases, bone in 30, and uncertain in one. The Kaplan-Meier estimate of 5-year overall survival (OS) in all patients was 38% and of progression-free survival (PFS), 27%. When patients with metastatic disease at presentation were excluded, these figures increased to 52% and 34%, respectively. Bulk of disease at presentation and response to primary treatment were statistically highly significant predictors of both PFS and OS. Age and tissue of origin of the tumor did not influence outcome. CONCLUSION: The behavior of Ewing's sarcoma and PNET in adults is no different from its behavior in children. We feel the way forward in the treatment of adults with Ewing's sarcoma and PNET is for them to be included in the current multicenter trials of multidisciplinary treatment directed at children.

Adolescent↗
PubMed2005

Cytogenetic confirmation of a gastrointestinal stromal tumor and ewing sarcoma/primitive neuroectodermal tumor in a single patient.

We report a rare case in which two tumor entities, a gastrointestinal stromal tumor (GIST) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), with distinct cytogenetic features occurred in a single patient. The patient was a 72-year-old woman. The first tumor was a submucosal gastric tumor and was diagnosed as a low-risk group GIST based on morphological characteristics and the results of an immunohistochemical analysis for c-kit and CD34. Further cytogenetic analysis revealed that this tumor had a point mutation (D842V substitution) in exon 18 of the platelet-derived growth factor receptor alpha gene. The second tumor was found more than 4 years after the appearance of the first tumor. ES/PNET was highly suspected both morphologically and immunohistochemically, and the diagnosis was confirmed by the detection of an EWS rearrangement using a fluorescence in situ hybridization technique. Although the cytogenetic correlations of these two tumors are unclear, accurate histologic recognition is of clinical importance because the treatments for these two tumors differ.

Aged↗