The Experts below are selected from a list of 117 Experts worldwide ranked by ideXlab platform
Genevieve Laureys - One of the best experts on this subject based on the ideXlab platform.
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localization of the 17q breakpoint of a constitutional 1 17 translocation in a Patient with Neuroblastoma within a 25 kb segment located between the accn1 and tlk2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type
Genes Chromosomes and Cancer, 2002Co-Authors: Nadine Van Roy, Jo Vandesompele, Geert Berx, Katrien Staes, Mireille Van Gele, Els De Smet, Anne De Paepe, Genevieve Laureys, Pauline Van Der Drift, Rogier VersteegAbstract:We have constructed a 1.4-Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a Patient with Neuroblastoma. Three 17q breakpoint-overlapping cosmids were identified and sequenced. No coding sequences were found in the immediate proximity of the 17q breakpoint. The PAC/BAC contig covers the region between the proximally located ACCN1 gene and the distally located TLK2 gene and SCYA chemokine gene cluster. The observation that the 17q breakpoint region could not be detected in any of the screened yeast artificial chromosome libraries and the localization of the 17q breakpoint in the vicinity of the distal breakpoints of two microdeletions in Patients with neurofibromatosis type 1 suggest that this chromosomal region is genetically unstable and prone to rearrangements.
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identification of the breakpoint flanking markers on chromosomes 1 and 17 of a constitutional translocation t 1 17 p36 q12 21 in a Patient with Neuroblastoma
Verhandelingen - Koninklijke Academie voor Geneeskunde van België, 1995Co-Authors: Genevieve LaureysAbstract:Neuroblastoma is a childhood cancer which originates in the embryonic tissue of the developing sympathetic neural crest. In 1972, Dr. A. Knudson hypothesised a similar 'two-hit mutation' model for the origin of Neuroblastoma as for retinoblastoma and Wilms tumor. In this model, malignant cell growth is caused by mutations of both alleles of a tumor suppressor gene. In hereditary tumors, a germinal mutation is present in all cells of the individual, a mutation of the remaining allele by a somatic hit causes loss of gene function. Sporadic tumors result from two somatic mutations of a tumor suppressor gene involving both alleles within the same cell. The occurrence of Patients with a constitutional chromosomal deletion syndrome in association with tumor facilitated the cloning of a retinoblastoma gene and of a Wilms tumor suppressor gene. In Neuroblastoma, cytogenetic and molecular studies suggest the existence of a Neuroblastoma (suppressor) gene at chromosome 1, at subband 1p36. A constitutional chromosomal deletion syndrome was not known for Neuroblastoma. We described a constitutional chromosome translocation t(1;17)(p36.31-21; q11.2-12) in a Patient with Neuroblastoma. We hypothesised that this translocation, involving the chromosomal band 1p36, predisposed the Patient to Neuroblastoma development by disturbance of a gene located at the translocation breakpoint. Consequently, identification of the breakpoint flanking markers can be an important step towards the identification and cloning of a Neuroblastoma suppressor gene. Radioactive in situ hybridization methods were first applied on the Patient's fibroblasts. Soon it became evident that cells with better growth characteristics were needed and that the availability of sufficient Patient material was essential. Therefore a somatic cell fusion experiment was performed between the Patient's fibroblasts and a thymidine kinase-deficient Chinese hamster cell line. Somatic cell hybrid clones were selected on the presence of the derivative human chromosomes 1 and 17, and of the normal homologues. with the use of fluorescence in situ hybridisation (FISH), the position of chromosome 1 and chromosome 17 markers respective to the breakpoints was determined on chromosome metaphases of the hybrid cell lines containing the human derivative chromosomes. The pronatriodilatine (PND) and the adenovirus 12 modification site (A12M2) were identified as distal and proximal 'single copy' flanking markers of the chromosome 1 breakpoint, respectively. The chromosomal break occurred in a highly repetitive region containing an adenovirus modification site and genes encoding transfer RNA and small U1-RNA genes. The breakpoint on chromosome 17 is located in a region with as proximal boundary the distal part of the neurofibromatosis 1 (NF1) gene locus and as distal flanking marker the SCYA7 locus, encoding the monocyte chemotactic protein-3. Southern blot analysis showed no rearrangements of hybrid DNA using single copy probes for the four flanking markers. Identification of the four breakpoint flanking markers on chromosomes 1 and 17 constitutes a pivotal step for the cloning of the translocation breakpoints and for the identification of a presumed Neuroblastoma suppressor gene.
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characterisation of the chromosome breakpoints in a Patient with a constitutional translocation t 1 17 p36 31 p36 13 q11 2 q12 and Neuroblastoma
European Journal of Cancer, 1995Co-Authors: Genevieve Laureys, Rogier Versteeg, Frank Speleman, Ghislain Opdenakker, P Van Der Drift, Uta Francke, N Van RoyAbstract:Cytogenetic and molecular studies in Neuroblastoma suggest the presence of a tumour suppressor gene at the distal chromosome band 1p36. Previously, we hypothesised that a constitutional translocation involving the region 1p36 [t(1;17)(p36;q12-q21)] in a Patient with Neuroblastoma predisposed him to tumour development. Here we report the molecular delineation of the translocation breakpoints. Somatic cell hybrids containing the derivative chromosomes were used to determine the position of chromosome 1p and 17q DNA probes respective to the breakpoints using fluorescence in situ hybridisation. The 1p breakpoint was localised between the PND and D1S56 loci. The chromosome 17q breakpoint is flanked by NF1 and SCYA7, as proximal and distal marker, respectively. We redefined the translocation as t(1;17)(p36.31-13;q11.2-q12). The identification of flanking markers of the breakpoints is a prerequisite for breakpoint cloning and identification of a putative Neuroblastoma suppressor gene.
N Van Roy - One of the best experts on this subject based on the ideXlab platform.
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characterisation of the chromosome breakpoints in a Patient with a constitutional translocation t 1 17 p36 31 p36 13 q11 2 q12 and Neuroblastoma
European Journal of Cancer, 1995Co-Authors: Genevieve Laureys, Rogier Versteeg, Frank Speleman, Ghislain Opdenakker, P Van Der Drift, Uta Francke, N Van RoyAbstract:Cytogenetic and molecular studies in Neuroblastoma suggest the presence of a tumour suppressor gene at the distal chromosome band 1p36. Previously, we hypothesised that a constitutional translocation involving the region 1p36 [t(1;17)(p36;q12-q21)] in a Patient with Neuroblastoma predisposed him to tumour development. Here we report the molecular delineation of the translocation breakpoints. Somatic cell hybrids containing the derivative chromosomes were used to determine the position of chromosome 1p and 17q DNA probes respective to the breakpoints using fluorescence in situ hybridisation. The 1p breakpoint was localised between the PND and D1S56 loci. The chromosome 17q breakpoint is flanked by NF1 and SCYA7, as proximal and distal marker, respectively. We redefined the translocation as t(1;17)(p36.31-13;q11.2-q12). The identification of flanking markers of the breakpoints is a prerequisite for breakpoint cloning and identification of a putative Neuroblastoma suppressor gene.
Rogier Versteeg - One of the best experts on this subject based on the ideXlab platform.
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localization of the 17q breakpoint of a constitutional 1 17 translocation in a Patient with Neuroblastoma within a 25 kb segment located between the accn1 and tlk2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type
Genes Chromosomes and Cancer, 2002Co-Authors: Nadine Van Roy, Jo Vandesompele, Geert Berx, Katrien Staes, Mireille Van Gele, Els De Smet, Anne De Paepe, Genevieve Laureys, Pauline Van Der Drift, Rogier VersteegAbstract:We have constructed a 1.4-Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a Patient with Neuroblastoma. Three 17q breakpoint-overlapping cosmids were identified and sequenced. No coding sequences were found in the immediate proximity of the 17q breakpoint. The PAC/BAC contig covers the region between the proximally located ACCN1 gene and the distally located TLK2 gene and SCYA chemokine gene cluster. The observation that the 17q breakpoint region could not be detected in any of the screened yeast artificial chromosome libraries and the localization of the 17q breakpoint in the vicinity of the distal breakpoints of two microdeletions in Patients with neurofibromatosis type 1 suggest that this chromosomal region is genetically unstable and prone to rearrangements.
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characterisation of the chromosome breakpoints in a Patient with a constitutional translocation t 1 17 p36 31 p36 13 q11 2 q12 and Neuroblastoma
European Journal of Cancer, 1995Co-Authors: Genevieve Laureys, Rogier Versteeg, Frank Speleman, Ghislain Opdenakker, P Van Der Drift, Uta Francke, N Van RoyAbstract:Cytogenetic and molecular studies in Neuroblastoma suggest the presence of a tumour suppressor gene at the distal chromosome band 1p36. Previously, we hypothesised that a constitutional translocation involving the region 1p36 [t(1;17)(p36;q12-q21)] in a Patient with Neuroblastoma predisposed him to tumour development. Here we report the molecular delineation of the translocation breakpoints. Somatic cell hybrids containing the derivative chromosomes were used to determine the position of chromosome 1p and 17q DNA probes respective to the breakpoints using fluorescence in situ hybridisation. The 1p breakpoint was localised between the PND and D1S56 loci. The chromosome 17q breakpoint is flanked by NF1 and SCYA7, as proximal and distal marker, respectively. We redefined the translocation as t(1;17)(p36.31-13;q11.2-q12). The identification of flanking markers of the breakpoints is a prerequisite for breakpoint cloning and identification of a putative Neuroblastoma suppressor gene.
Susan L Cohn - One of the best experts on this subject based on the ideXlab platform.
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opsoclonus myoclonus and anti hu positive limbic encephalitis in a Patient with Neuroblastoma
Pediatric Blood & Cancer, 2012Co-Authors: Andres Morales La Madrid, Charles M Rubin, Michael Kohrman, Peter Pytel, Susan L CohnAbstract:Opsoclonus-myoclonus syndrome (OMS) is seen in 2-3% of children with Neuroblastoma and is believed to be caused by an autoimmune process elicited by the tumor. Although long-term neurologic sequelae are common in children with OMS, limbic encephalitis has not previously been reported. We report a child who developed limbic encephalitis associated with anti-Hu antibodies, 6 years after her initial diagnosis of Neuroblastoma and OMS. This case demonstrates that Patients with Neuroblastoma and OMS are at risk for developing new paraneoplastic symptoms years after their original diagnosis and emphasizes the need for careful long-term follow-up.
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brief report opsoclonus myoclonus and anti hu positive limbic encephalitis in a Patient with Neuroblastoma
2011Co-Authors: Andres Morales La Madrid, Charles M Rubin, Michael Kohrman, Peter Pytel, Susan L CohnAbstract:Opsoclonus-myoclonus syndrome (OMS) is seen in 2-3% of children with Neuroblastoma and is believed to be caused by an autoimmune process elicited by the tumor. Although long-term neurologic sequelae are common in children with OMS, limbic encephalitis has not previously been reported. We report a child who developed limbic encephalitis associated with anti-Hu antibodies, 6 years after her initial diagnosis of Neuroblastoma and OMS. This case demonstrates that Patients with Neuroblastoma and OMS are at risk for developing new paraneoplastic symptoms years after their original diagnosis and emphasizes the need for careful long-term follow-up. Pediatr Blood Cancer 2011 Wiley-Liss, Inc.
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rituximab for treatment of opsoclonus myoclonus syndrome in Neuroblastoma
Pediatric Blood & Cancer, 2008Co-Authors: Michael J Burke, Susan L CohnAbstract:Opsoclonus-myoclonus syndrome (OMS) is a rare paraneoplastic syndrome that occurs in 2%-3% of Patients with Neuroblastoma. The cause of this syndrome is believed to be immune mediated, but the exact mechanism still remains unclear. There is an urgent need to improve our current strategies for treating Patients with OMS, as many Patients have significant long-term neurologic deficits and behavior disorders with current treatment approaches. Therapies that have shown to improve symptoms in these Patients have ranged from ACTH and corticosteroids, to intravenous gammaglobulin and plasmapheresis. We report our experience with Rituximab in a Patient with Neuroblastoma and OMS.
Uta Francke - One of the best experts on this subject based on the ideXlab platform.
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characterisation of the chromosome breakpoints in a Patient with a constitutional translocation t 1 17 p36 31 p36 13 q11 2 q12 and Neuroblastoma
European Journal of Cancer, 1995Co-Authors: Genevieve Laureys, Rogier Versteeg, Frank Speleman, Ghislain Opdenakker, P Van Der Drift, Uta Francke, N Van RoyAbstract:Cytogenetic and molecular studies in Neuroblastoma suggest the presence of a tumour suppressor gene at the distal chromosome band 1p36. Previously, we hypothesised that a constitutional translocation involving the region 1p36 [t(1;17)(p36;q12-q21)] in a Patient with Neuroblastoma predisposed him to tumour development. Here we report the molecular delineation of the translocation breakpoints. Somatic cell hybrids containing the derivative chromosomes were used to determine the position of chromosome 1p and 17q DNA probes respective to the breakpoints using fluorescence in situ hybridisation. The 1p breakpoint was localised between the PND and D1S56 loci. The chromosome 17q breakpoint is flanked by NF1 and SCYA7, as proximal and distal marker, respectively. We redefined the translocation as t(1;17)(p36.31-13;q11.2-q12). The identification of flanking markers of the breakpoints is a prerequisite for breakpoint cloning and identification of a putative Neuroblastoma suppressor gene.