Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have reviewed 16 children with extradural spinal tumors, both benign and malignant, treated from 1998 to 2006 in Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. The duration of symptomatology, clinical signs, radiological investigations, surgical approach, outcome and histopathological variation from the Western world was noted and evaluated. The age of these children ranged from 3 to 20 years. There were 11 boys and 5 girls. The duration of symptoms was 2-18 months, relatively longer in benign (mean 9.5 months) than malignant (mean 4.2 months) tumors. The follow-up ranged from 3 to 72 months and patients were graded preoperatively and postoperatively with the McCormick Functional Grading System. There was significant improvement in grade III-V patients, i.e. 74% of patients were grade III-IV at presentation, and only 35% at the last follow-up. There was deterioration from grade III to grade IV in 2 patients (PNET + metastatic adenocarcinoma) and 2 patients (neuroblastoma + Ewing's sarcoma) maintained their grades of IV and V, respectively. There was a wide range of histological variants seen in our series and the patients were treated primarily with a suitable surgical approach and adjuvant chemoradiotherapy, wherever indicated.
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PMID:Pediatric extradural spinal tumors. 1833 40

The KIAA 0864 (KA) protein is a putative protein of a cDNA from 100 cDNA clones that was newly determined from a set of size-fractionated human brain cDNA libraries and their coding potentials of large proteins (180-200 kD) by using in vitro transcription assays. To elucidate the correlation between the KA protein and neuroepithelial tumors (NETs), the present study assessed the KA expression by the NETs using immunohistochemical and Western blot analyses with HFB-16 monoclonal antibody. Among the 55 NETs, a moderate-to-intense KA protein immunoreactivity was observed in 8 of 8 medulloblastomas, 1 of 1 central nervous system supratentorial primitive neuroectodermal tumor (CNS supratentorial PNET), 4 of 4 retinoblastomas, 1 of 1 neuroblastoma, 8 of 8 central neurocytomas, 4 of 4 oligodendrogliomas, 4 of 4 oligoastrocytomas, 1 of 1 extraventricular neurocytoma, and 1 of 1 gangliocytoma. No or a weak KA protein immunoreactivity was observed in 11 of 11 glioblastomas (GBs), 4 of 4 anaplastic astrocytomas, 4 of 4 astrocytomas, and 4 of 4 pilocytic astrocytomas. These results indicate that the antibody HFB-16 could be a useful marker for neuronal tumors and primitive neuroectodermal tumors that may originate from immature neural progenitor cells. In addition, it could be a useful tool for performing the differential diagnosis between GBs and CNS supratentorial PNET.
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PMID:Expression of KIAA 0864 protein in neuroepithelial tumors: an analysis based on the presence of monoclonal antibody HFB-16. 1845 18

The case of a 4-month-old male infant treated with combined surgery and chemotherapy for an aggressive recurrent melanotic neuroectodermal tumor of infancy (MNTI) on the top of the alveolar process of the mandible with a long-term follow-up is presented. Initial treatment comprised conservative local excision and curettage of the mandible. After several local recurrences and because radical surgical excision would give gross functional and aesthetic mutilation, finally complete, long-lasting remission was achieved with adjuvant chemotherapy, according to a neuroblastoma protocol (10-year follow-up). The reason for this protocol was because molecular genetic studies of this tumor showed loss of heterozygosity of chromosome 1p and gain of chromosome 7q analogue to neuroblastomas. A combination of surgery and chemotherapy should be the preferred treatment in case of a recurrence MNTI because optimal functional and aesthetic outcome.
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PMID:Recurrent melanotic neuroectodermal tumor of infancy: a proposal for treatment protocol with surgery and adjuvant chemotherapy. 1860 97

The recognition that genetic defects identify some pediatric solid tumors and may represent prognostic markers has provided cytologists with an extra tool for dealing with such tumors. Using some entities as archetypes, we discuss the importance of the association of fine needle biopsy and genetics, in the diagnosis, prognosis, and therapy selection of solid pediatric tumors. Immunocytochemistry is important to differentiate neuroblastoma, PNET/Ewing sarcoma, alveolar rhabdomyosarcoma, lymphoma, and desmoplastic small round cell tumor. Despite its usefulness in many cases, it is not conclusive and some of the aforementioned tumors even share the expression of some antibodies. The detection of specific diagnostic translocations will thus provide additional information and allows a precise cytologic diagnosis. Kidney tumors are also frequent in children. Although no genetic abnormalities have been identified so far in nephroblastoma, other kidney tumors, such as mesoblastic nephroma, whose cytology pattern can masquerade nephroblastoma, are also characterized by specific translocations. Kidney tumors in children have also been associated recently with typical genetic alterations such as Xp11.2RCC. Concerning prognosis and therapy selection, neuroblastoma is a sort of paradigm. The identification of MYCN oncogene status as an independent prognostic factor is determinant, not only in the assessment of clinical evolution, but also in the identification of risk groups, and consequently in the appropriate therapy selection. Cytopathologists should be aware of the genetic alterations characterizing pediatric tumors in order to collect extra material to perform cytogenetics, FISH, PCR, and Southern blotting, to achieve the correct identification of such genetic changes.
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PMID:Fine needle biopsy and genetics, two allied weapons in the diagnosis, prognosis, and target therapeutics of solid pediatric tumors. 1867 57

The GD2 ganglioside expressed on neuroectodermal tumor cells has been used as a target for passive and active immunotherapy in patients with malignant melanoma and neuroblastoma. We have reported that immunization of mice with a 47-LDA mimotope of GD2, isolated from a phage display peptide library with anti-GD2 mAb 14G2a, induces MHC class I-restricted CD8(+) T cell responses to syngeneic neuroblastoma tumor cells. The cytotoxic activity of the vaccine-induced CTLs was independent of GD2 expression, suggesting recognition of a novel tumor-associated Ag cross-reacting with 47-LDA. Glycan microarray and immunoblotting studies using 14G2a mAb demonstrated that this Ab is highly specific for the entire carbohydrate motif of GD2 but also cross-reacts with a 105 kDa glycoprotein expressed by GD2(+) and GD2(-) neuroblastoma and melanoma cells. Functional studies of tumor cells grown in three-dimensional collagen cultures with 14G2a mAb showed decreases in matrix metalloproteinase-2 activation, a process regulated by the 105 kDa-activated leukocyte cell adhesion molecule (ALCAM/CD166). A recombinant CD166 glycoprotein was shown to be recognized by 14G2a Ab and inhibition of CD166 expression by RNA interference ablated the cell sensitivity to lysis by 47-LDA-induced CD8(+) T cells in vitro and in vivo. The binding of 14G2a to CD166 was not disruptable by a variety of exo- and endo-glycosidases, implying recognition of a non-glycan epitope on CD166. These results suggest that the vaccine-induced CTLs recognize a 47-LDA cross-reactive epitope expressed by CD166, and reveal a novel mechanism of induction of potent tumor-specific cellular responses by mimotopes of tumor-associated carbohydrate Ags.
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PMID:Immunization with a mimotope of GD2 ganglioside induces CD8+ T cells that recognize cell adhesion molecules on tumor cells. 1894 Dec 55

We present the very unusual case of a young woman suffering from a brain tumor 22 years after a stage IV spinal neuroblastoma as an infant, demonstrating the difficulties of differentiating late neuroblastoma relapse from secondary supratentorial primitive neuroectodermal tumor (sPNET). Lacking specific immunohistochemical features, the first cerebral tumor at the age of 21 was regarded as sPNET, and we pursued a therapeutic approach consisting of neurosurgical resection as well as irradiation and high-dose alkylator-based chemotherapy according to the HIT2000 protocol. Two years later the patient suffered from a diffusely infiltrating local recurrence, changing its imaging appearance as well as its immunohistochemical characteristics, now revealing disseminated positivity for neuron-specific enolase and neural cell adhesion molecule. Moreover, the lack of PNET-specific translocations (EWS/FLI1 gene fusion) in both brain tumors as well as the development of hepatic metastases was more compatible with the diagnosis of a very late relapse 22 years after initial stage IV spinal neuroblastoma.
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PMID:CNS tumor 22 years after spinal neuroblastoma IV: diagnostic dilemma between recurrence and secondary malignancy. 1925 32

Olfactory neuroblastoma is an uncommon neuroectodermal tumor of the sinonasal tract. It represents 2% to 3% of sinonasal neoplasms. Most olfactory neuroblastoma behave locally aggressive with 30% recurrence rates. A subset metastasizes to lymph nodes and/or distant sites. Grading of olfactory neuroblastoma involves a combination of factors with low-grade tumors having better survival than high-grade tumors. The grade does not always predict prognosis, however, as metastases can be seen in all grades of olfactory neuroblastoma. Trk-A, Trk-B, and p75NRT are neurotrophin receptors associated with numerous solid malignancies, particularly pediatric neuroblastoma. GRP78 is an endoplasmic reticulum protein, associated with differentiation of neuroblastic cells. Trk-A, p75NRT, and GRP78 overexpression are favorable prognostic factors in pediatric neuroblastoma, whereas Trk-B is associated with a poorer prognosis in these tumors. Olfactory neuroblastoma is clinically distinct from pediatric neuroblastoma but shares some histological features. Trk-A and p75NRT have been demonstrated in olfactory neuroblastoma previously. Trk-B and GRP78 have not been investigated in olfactory neuroblastoma. None of these markers have been correlated with grade or outcome in olfactory neuroblastoma. To investigate the role of Trk-A, Trk-B, p75NRT, and GRP78, a series of 20 olfactory neuroblastomas was stained with these antibodies. Trk-A and Trk-B stained most cases of olfactory neuroblastoma (90% and 85%). GRP78 stained most cases (90%), although weakly. P75NRT demonstrated focal membranous staining in a sustentacular pattern (60%). None of these markers correlated with Hyams grade. None of these markers definitively correlated with patient outcome. Neurotrophin receptors do not appear to have a prognostic role; however, Trk's may play an oncogenic role in olfactory neuroblastoma.
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PMID:Expression patterns of Trk-A, Trk-B, GRP78, and p75NRT in olfactory neuroblastoma. 1938 45

The pathologist forms a very important part of the clinical team in the management of pediatric intra-abdominal masses in giving a rapid, accurate diagnosis for these potentially curable tumors. Fine-needle aspiration cytology (FNAC) is an invaluable tool in this regard when interpreted with clinicoradiologic parameters. With this in mind, we decided to evaluate the role of FNAC in pediatric abdominal masses in our institution. A total of 83 of 105 FNAC accessioned in the pathology department over 5 years (2003-2007) were studied. These included only cases where a diagnosis could be offered on cytology. Detailed clinicoradiological features were obtained from hospital records. Cytomorphological features examined included cellularity, architectural pattern, background, key cellular details. Immunocytochemistry were done where necessary. Lesions diagnosed on FNAC included Wilms' tumor (19), lymphoma (10), neuroblastoma (6), hepatoblastoma (5), PNET (5), rhabdomyosarcoma (2), DSRCT (2), germ cell tumor (6), and miscellaneous tumors (7). Definite diagnosis could be offered on cytomorphology in 74.7% (62) cases, while in 25.3% (21) cases only a diagnosis of round cell tumor could be offered. Concordance with final histopathology and biochemical parameters was subsequently obtained in 79/83 (95.5%) of cases. A clinically relevant classification is possible on FNAC in pediatric abdominal tumors when interpreted with clinicoradiologic parameters. This obviates the need for a more time-consuming biopsy procedure in critical situations and in stage II nephroblastoma where it is contraindicated.
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PMID:Evaluation of pediatric abdominal masses by fine-needle aspiration cytology: a clinicoradiologic approach. 1968 67

Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases. These translocations and their gene fusions have not been identified in other neoplasms, making their identification an attractive target for applying ancillary diagnostic techniques such as fluorescence in situ hybridization (FISH). We report our experience with a dual-color break-apart FISH probe for the detection of FOXO1 (13q14) rearrangements in neoplasms within the differential diagnosis of ARMS, using routinely processed formalin-fixed, paraffin-embedded tissues. A total of 52 sarcomas were analyzed including ARMS (n = 25), embryonal rhabdomyosarcomas (n = 8), neuroblastoma (n = 1), desmoplastic small round cell tumors (n = 2), Ewing sarcoma/primitive neuroectodermal tumors (EWS/PNET; n = 15), and round cell liposarcoma (n = 1). Cytogenetics and/or reverse transcription polymerase chain reaction data were available on a subset of the ARMS (n = 11) and EWS/PNET cases (n = 5). A minimum of 100 interphase tumor nuclei were evaluated for the presence of intact or translocated signals. FOXO1 gene rearrangements were identified in 88% (22/25) of ARMS (mean: 91% positive cells/case; range: 50% to 100%), whereas no rearrangements were detected in the other neoplasms examined (mean: 1.4% positive cells/case; range: 0% to 4%). FOXO1 (13q14) FISH on formalin-fixed, paraffin-embedded tissues samples showed excellent concordance with reverse transcription polymerase chain reaction and cytogenetic analyses in ARMS cases, demonstrated excellent specificity (100%) when applied to potential mimickers such as EWS/PNET, and played an important role in the differential diagnosis of small round cell tumors.
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PMID:The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. 1970 58

Undifferentiated malignant round cell tumors of the sinonasal tract and nasopharynx comprise of aggressive malignant neoplasms with overlapping morphologic features, which yet are very different and can be identified as carcinoma, lymphoma, sarcoma, melanoma or olfactory neuroblastoma. Differentiating these tumors is important because their treatment and prognosis are quite different. Because of the limited initial biopsy tissue materials, major differential diagnostic difficulties may arise. The use of a panel of immunohistochemical markers and the identification, in some cases, of specific chromosomal translocations are most often required. We describe clinical, morphological, immunohistochemical and molecular features as well as therapeutic management and prognosis of rhabdomyosarcoma (RMS), Ewing sarcoma/primitive neuroectodermic tumor (EWS/PNET), nonkeratinizing nasopharyngeal carcinoma, undifferentiated subtype (UCNT), olfactory neuroblastoma (ONB), small cell carcinoma, neuroendocrine type (SCCNET), sinonasal undifferentiated carcinoma (SNUC) and mucosal melanoma. Mesenchymal chondrosarcoma, small round cell synovialosarcoma, lymphomas and plasmocytoma are not introduced. The most important features of diagnosis will be summarized in two tables.
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PMID:[Undifferentiated malignant round cell tumors of the sinonasal tract and nasopharynx]. 1990 Jun 35


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