Search Results - (Author, Cooperation:W. Scheurlen)

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  1. 1
    P. A. Northcott ; D. J. Shih ; J. Peacock ; L. Garzia ; A. S. Morrissy ; T. Zichner ; A. M. Stutz ; A. Korshunov ; J. Reimand ; S. E. Schumacher ; R. Beroukhim ; D. W. Ellison ; C. R. Marshall ; A. C. Lionel ; S. Mack ; A. Dubuc ; Y. Yao ; V. Ramaswamy ; B. Luu ; A. Rolider ; F. M. Cavalli ; X. Wang ; M. Remke ; X. Wu ; R. Y. Chiu ; A. Chu ; E. Chuah ; R. D. Corbett ; G. R. Hoad ; S. D. Jackman ; Y. Li ; A. Lo ; K. L. Mungall ; K. M. Nip ; J. Q. Qian ; A. G. Raymond ; N. T. Thiessen ; R. J. Varhol ; I. Birol ; R. A. Moore ; A. J. Mungall ; R. Holt ; D. Kawauchi ; M. F. Roussel ; M. Kool ; D. T. Jones ; H. Witt ; L. A. Fernandez ; A. M. Kenney ; R. J. Wechsler-Reya ; P. Dirks ; T. Aviv ; W. A. Grajkowska ; M. Perek-Polnik ; C. C. Haberler ; O. Delattre ; S. S. Reynaud ; F. F. Doz ; S. S. Pernet-Fattet ; B. K. Cho ; S. K. Kim ; K. C. Wang ; W. Scheurlen ; C. G. Eberhart ; M. Fevre-Montange ; A. Jouvet ; I. F. Pollack ; X. Fan ; K. M. Muraszko ; G. Y. Gillespie ; C. Di Rocco ; L. Massimi ; E. M. Michiels ; N. K. Kloosterhof ; P. J. French ; J. M. Kros ; J. M. Olson ; R. G. Ellenbogen ; K. Zitterbart ; L. Kren ; R. C. Thompson ; M. K. Cooper ; B. Lach ; R. E. McLendon ; D. D. Bigner ; A. Fontebasso ; S. Albrecht ; N. Jabado ; J. C. Lindsey ; S. Bailey ; N. Gupta ; W. A. Weiss ; L. Bognar ; A. Klekner ; T. E. Van Meter ; T. Kumabe ; T. Tominaga ; S. K. Elbabaa ; J. R. Leonard ; J. B. Rubin ; L. M. Liau ; E. G. Van Meir ; M. Fouladi ; H. Nakamura ; G. Cinalli ; M. Garami ; P. Hauser ; A. G. Saad ; A. Iolascon ; S. Jung ; C. G. Carlotti ; R. Vibhakar ; Y. S. Ra ; S. Robinson ; M. Zollo ; C. C. Faria ; J. A. Chan ; M. L. Levy ; P. H. Sorensen ; M. Meyerson ; S. L. Pomeroy ; Y. J. Cho ; G. D. Bader ; U. Tabori ; C. E. Hawkins ; E. Bouffet ; S. W. Scherer ; J. T. Rutka ; D. Malkin ; S. C. Clifford ; S. J. Jones ; J. O. Korbel ; S. M. Pfister ; M. A. Marra ; M. D. Taylor
    Nature Publishing Group (NPG)
    Published 2012
    Staff View
    Publication Date:
    2012-07-27
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Carrier Proteins/genetics ; Cerebellar Neoplasms/*classification/*genetics/metabolism ; Child ; DNA Copy Number Variations/genetics ; Gene Duplication/genetics ; Genes, myc/genetics ; Genome, Human/*genetics ; Genomic Structural Variation/*genetics ; Genomics ; Hedgehog Proteins/metabolism ; Humans ; Medulloblastoma/*classification/*genetics/metabolism ; NF-kappa B/metabolism ; Nerve Tissue Proteins/genetics ; Oncogene Proteins, Fusion/genetics ; Proteins/genetics ; RNA, Long Noncoding ; Signal Transduction ; Transforming Growth Factor beta/metabolism ; Translocation, Genetic/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    P. A. Northcott ; C. Lee ; T. Zichner ; A. M. Stutz ; S. Erkek ; D. Kawauchi ; D. J. Shih ; V. Hovestadt ; M. Zapatka ; D. Sturm ; D. T. Jones ; M. Kool ; M. Remke ; F. M. Cavalli ; S. Zuyderduyn ; G. D. Bader ; S. VandenBerg ; L. A. Esparza ; M. Ryzhova ; W. Wang ; A. Wittmann ; S. Stark ; L. Sieber ; H. Seker-Cin ; L. Linke ; F. Kratochwil ; N. Jager ; I. Buchhalter ; C. D. Imbusch ; G. Zipprich ; B. Raeder ; S. Schmidt ; N. Diessl ; S. Wolf ; S. Wiemann ; B. Brors ; C. Lawerenz ; J. Eils ; H. J. Warnatz ; T. Risch ; M. L. Yaspo ; U. D. Weber ; C. C. Bartholomae ; C. von Kalle ; E. Turanyi ; P. Hauser ; E. Sanden ; A. Darabi ; P. Siesjo ; J. Sterba ; K. Zitterbart ; D. Sumerauer ; P. van Sluis ; R. Versteeg ; R. Volckmann ; J. Koster ; M. U. Schuhmann ; M. Ebinger ; H. L. Grimes ; G. W. Robinson ; A. Gajjar ; M. Mynarek ; K. von Hoff ; S. Rutkowski ; T. Pietsch ; W. Scheurlen ; J. Felsberg ; G. Reifenberger ; A. E. Kulozik ; A. von Deimling ; O. Witt ; R. Eils ; R. J. Gilbertson ; A. Korshunov ; M. D. Taylor ; P. Lichter ; J. O. Korbel ; R. J. Wechsler-Reya ; S. M. Pfister
    Nature Publishing Group (NPG)
    Published 2014
    Staff View
    Publication Date:
    2014-07-22
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Child ; Chromosomes, Human, Pair 9/genetics ; DNA-Binding Proteins/*genetics/metabolism ; Enhancer Elements, Genetic/*genetics ; Genomic Structural Variation/*genetics ; Humans ; Medulloblastoma/classification/*genetics/pathology ; Mice ; Oncogenes/*genetics ; Proto-Oncogene Proteins/*genetics/metabolism ; Repressor Proteins/*genetics/metabolism ; Transcription Factors/*genetics/metabolism
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Staff View
    Publication Date:
    2014-05-23
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Binding Sites ; Cell Line, Tumor ; Chromatin/genetics/metabolism ; Chromatin Immunoprecipitation ; DNA Methylation/*genetics ; Female ; *Gene Expression Regulation, Neoplastic ; *Gene Silencing ; Genome/genetics ; Histones/metabolism ; Humans ; Medulloblastoma/*genetics/pathology ; Mice ; Promoter Regions, Genetic/genetics ; RNA-Binding Proteins/genetics ; Sequence Analysis, DNA/*methods ; Transcription Factors/metabolism ; Transcription, Genetic
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    J. Schwartzentruber ; A. Korshunov ; X. Y. Liu ; D. T. Jones ; E. Pfaff ; K. Jacob ; D. Sturm ; A. M. Fontebasso ; D. A. Quang ; M. Tonjes ; V. Hovestadt ; S. Albrecht ; M. Kool ; A. Nantel ; C. Konermann ; A. Lindroth ; N. Jager ; T. Rausch ; M. Ryzhova ; J. O. Korbel ; T. Hielscher ; P. Hauser ; M. Garami ; A. Klekner ; L. Bognar ; M. Ebinger ; M. U. Schuhmann ; W. Scheurlen ; A. Pekrun ; M. C. Fruhwald ; W. Roggendorf ; C. Kramm ; M. Durken ; J. Atkinson ; P. Lepage ; A. Montpetit ; M. Zakrzewska ; K. Zakrzewski ; P. P. Liberski ; Z. Dong ; P. Siegel ; A. E. Kulozik ; M. Zapatka ; A. Guha ; D. Malkin ; J. Felsberg ; G. Reifenberger ; A. von Deimling ; K. Ichimura ; V. P. Collins ; H. Witt ; T. Milde ; O. Witt ; C. Zhang ; P. Castelo-Branco ; P. Lichter ; D. Faury ; U. Tabori ; C. Plass ; J. Majewski ; S. M. Pfister ; N. Jabado
    Nature Publishing Group (NPG)
    Published 2012
    Staff View
    Publication Date:
    2012-01-31
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Adaptor Proteins, Signal Transducing/genetics ; Base Sequence ; Child ; Chromatin/*genetics/metabolism ; Chromatin Assembly and Disassembly/*genetics ; DNA Helicases/genetics ; DNA Mutational Analysis ; Exome/genetics ; Gene Expression Profiling ; Glioblastoma/*genetics ; Histones/*genetics/metabolism ; Humans ; Molecular Sequence Data ; Mutation/*genetics ; Nuclear Proteins/genetics ; Telomere/genetics ; Tumor Suppressor Protein p53/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  5. 5
    D. T. Jones ; N. Jager ; M. Kool ; T. Zichner ; B. Hutter ; M. Sultan ; Y. J. Cho ; T. J. Pugh ; V. Hovestadt ; A. M. Stutz ; T. Rausch ; H. J. Warnatz ; M. Ryzhova ; S. Bender ; D. Sturm ; S. Pleier ; H. Cin ; E. Pfaff ; L. Sieber ; A. Wittmann ; M. Remke ; H. Witt ; S. Hutter ; T. Tzaridis ; J. Weischenfeldt ; B. Raeder ; M. Avci ; V. Amstislavskiy ; M. Zapatka ; U. D. Weber ; Q. Wang ; B. Lasitschka ; C. C. Bartholomae ; M. Schmidt ; C. von Kalle ; V. Ast ; C. Lawerenz ; J. Eils ; R. Kabbe ; V. Benes ; P. van Sluis ; J. Koster ; R. Volckmann ; D. Shih ; M. J. Betts ; R. B. Russell ; S. Coco ; G. P. Tonini ; U. Schuller ; V. Hans ; N. Graf ; Y. J. Kim ; C. Monoranu ; W. Roggendorf ; A. Unterberg ; C. Herold-Mende ; T. Milde ; A. E. Kulozik ; A. von Deimling ; O. Witt ; E. Maass ; J. Rossler ; M. Ebinger ; M. U. Schuhmann ; M. C. Fruhwald ; M. Hasselblatt ; N. Jabado ; S. Rutkowski ; A. O. von Bueren ; D. Williamson ; S. C. Clifford ; M. G. McCabe ; V. P. Collins ; S. Wolf ; S. Wiemann ; H. Lehrach ; B. Brors ; W. Scheurlen ; J. Felsberg ; G. Reifenberger ; P. A. Northcott ; M. D. Taylor ; M. Meyerson ; S. L. Pomeroy ; M. L. Yaspo ; J. O. Korbel ; A. Korshunov ; R. Eils ; S. M. Pfister ; P. Lichter
    Nature Publishing Group (NPG)
    Published 2012
    Staff View
    Publication Date:
    2012-07-27
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Aging/genetics ; Amino Acid Sequence ; Cell Transformation, Neoplastic ; Cerebellar Neoplasms/classification/diagnosis/*genetics/pathology ; Child ; Chromatin/metabolism ; Chromosomes, Human/genetics ; DEAD-box RNA Helicases/genetics ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; Genome, Human/*genetics ; Genomics ; Hedgehog Proteins/metabolism ; High-Throughput Nucleotide Sequencing ; Histone Demethylases/genetics ; Humans ; Medulloblastoma/classification/diagnosis/*genetics/pathology ; Methylation ; Mutation/genetics ; Mutation Rate ; Neoplasm Proteins/genetics ; Nuclear Proteins/genetics ; Oncogene Proteins, Fusion/genetics ; Phosphoprotein Phosphatases/genetics ; Polyploidy ; Receptors, Cell Surface/genetics ; Sequence Analysis, RNA ; Signal Transduction ; T-Box Domain Proteins/genetics ; Transcription Factors/genetics ; Wnt Proteins/metabolism ; beta Catenin/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  6. 6
    Nanan, R. ; Scheurlen, W. ; Gerlich, M. ; Huppertz, H.-I.
    Springer
    Published 1995
    Staff View
    ISSN:
    1432-0584
    Keywords:
    Key words Steroid pulse therapy ; Methylprednisolone ; Low-titer cold-hemagglutinin disease ; Childhood
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract  We report the case of a 12-year-old boy suffering from severe low-titer cold-hemagglutinin disease with excruciating colicky abdominal pain, jaundice, and acute hemolytic anemia requiring transfusion. Cold hemagglutinins of the IgM type and a positive direct antiglobulin test, predominantly against C3d, were found. Steroid pulse therapy with 20 mg/kg body wt. methylprednisolone for 3 consecutive days was given. Abdominal pain disappeared within 12 h of the first steroid infusion and hemolysis was halted. We conclude that a therapeutic trial with steroid pulse therapy in severe low-titer cold-hemagglutinin disease is warranted.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01699254

    Articles: DFG German National Licenses
  7. 7
    Rutkowski, S. ; Scheurlen, W. ; Girschick, H. ; Schuster, V.
    Springer
    Published 1999
    Staff View
    ISSN:
    1433-0474
    Keywords:
    Schlüsselwörter Zyklische Neutropenie ; Angeborene Neutropenie ; Chronische Neutropenie ; Granulozyten-Kolonien-stimulierender Faktor ; Key words Cyclic neutropenia ; Congenital neutropenia ; Severe chronic neutropenia ; Granulocyte-colony stimulating factor
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Summary We report on a 15-months-old girl with a history of recurrent phlegmones of the lower eyelid, dacryocystitides, conjunctivities and mucositis together with growth-retardation, chronic obstipation and anal prolaps. During a period of 19 days absolute neutropenia was observed. Retrospectively, neutrophil counts were between 0–500/µl from birth on. Bone marrow biopsy revealed an arrest of maturation of granulopoiesis at the stage of promyelocytes. Continuous therapy with 10  µg/kg/d of recombinant human granulocyte-colony stimulating factor (G-CSF) induced 12-day oscillations of blood neutrophil counts. There were no oscillations of counts of other blood cell lines. Growth retardation and prolaps of anus normalized, and few intercurrent bacterial infections, pneumonia and impetigo contagiosa occurred. A mutation in the G-CSF-receptor gene was not found in this patient. Monosomia 7 was excluded. After 2 years of therapy, a reduction of rhG-CSF dose (application every 2 days) lead to a severe neutropenia. Discussion: History and hematological findings were compatible with both congenital neutropenia and cyclic neutropenia. However, oscillations of neutrophils after treatment with rhG-CSF suggested cyclic neutropenia. Since clinical predisposition for infections, pathogenesis, therapeutic regimes and long term outcome differ significantly between the two, an attribution to one of these subtypes of severe chronic neutropenia is important.
    Notes:
    Zusammenfassung Berichtet wird von einem 15 Monate alten Mädchen mit vorausgegangenen rezidivierenden Unterlidphlegmonen, Dakryozystitiden sowie Entzündungen im Bereich der Schleimhäute mit Gedeihstörung und Analprolaps. Es bestand über 19 Tage eine absolute Agranulozytose, d. h. es waren keine neutrophilen Granulozyten nachweisbar. Retrospektiv ließen sich Neutrophilenzahlen von 0–500/µl bis zur Geburt zurückverfolgen. Eine Knochenmarkpunktion zeigte einen Ausreifungsstop auf der Stufe der Promyelozyten. Unter kontinuierlicher Therapie mit rekombinantem humanem Granulozyten-Kolonien-stimulierenden Faktor (G-CSF) in einer Dosis von 5–10  µg/kg und Tag kam es zu einem zyklischen Anstieg der neutrophilen Granulozyten mit einer Zykluslänge von 12 Tagen. Andere Zellinien waren von den Schwankungen nicht betroffen. Unter der Therapie bildeten sich Gedeihstörung und Analprolaps zurück. Es traten jedoch noch vereinzelt bakterielle Infektionen wie eine Bronchopneumonie und eine Impetigo contagiosa auf. Eine Mutation im Gen des G-CSF-Rezeptors wurde bei der Patientin nicht gefunden. Eine Monosomie 7 wurde ausgeschlossen. Der einmalige Versuch einer Dosisreduktion (Gabe von rhG-CSF alle 2 Tage) nach 2 Jahren Therapie führte sofort zu einer schweren Neutropenie. Diskussion: Anamnese und Befunde der Patientin waren zunächst sowohl mit einer angeborenen Neutropenie als auch mit einer zyklischen Neutropenie vereinbar. Aufgrund der unter Therapie aufgetretenen zyklischen Schwankungen der Neutrophilenzahlen gehen wir jedoch eher von einer zyklischen Neutropenie aus. Eine Zuordnung zu einer dieser pathogenetisch unterschiedlichen Erkrankungen ist angesichts der Gefährdung für Infektionen, des Therapieregimes und der Prognose von Bedeutung.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001120050534

    Articles: DFG German National Licenses
  8. 8
    Nanan, R. ; Scheurlen, W. ; Gerlich, M. ; Huppertz, H. -I.
    Springer
    Published 1995
    Staff View
    ISSN:
    1432-0584
    Keywords:
    Steroid pulse therapy ; Methylprednisolone ; Low-titer cold-hemagglutinin disease ; Childhood
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report the case of a 12-year-old boy suffering from severe low-titer cold-hemagglutinin disease with excruciating colicky abdominal pain, jaundice, and acute hemolytic anemia requiring transfusion. Cold hemagglutinins of the IgM type and a positive direct antiglobulin test, predominantly against C3d, were found. Steroid pulse therapy with 20 mg/kg body wt. methylprednisolone for 3 consecutive days was given. Abdominal pain disappeared within 12 h of the first steroid infusion and hemolysis was halted. We conclude that a therapeutic trial with steroid pulse therapy in severe low-titer cold-hemagglutinin disease is warranted.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01699254

    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Promyelocytic leukaemia ; Atypical translocation ; Rearrangement ; reverse transcribed polymerase chain reaction
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RARα) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RARα fusion transcript. Conclusion This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RARα-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02072105

    Articles: DFG German National Licenses
  10. 10
    Scheurlen, W. ; Sörensen, N. ; Roggendorf, W. ; Kühl, J.
    Springer
    Published 1996
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words Medulloblastoma ; Monozygotic twins ; Loss of ; heterozygosity ; Chromosome 17p13 and 9q31
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report male monocygotic twins with concordant desmoplastic medulloblastoma diagnosed at the age of 20 months. Both tumours were completely removed. As chromosomal loci 17p13 and 9q31 are frequently altered in medulloblastoma these regions were analysed in both tumours in detail using restriction fragment length polymorphism and microsatellite analysis. No common aberration was found. The c-myc gene on chromosome 8q21 was not amplified. Conclusion Although a common genetic defect has not been found in our patients’ tumours the clinical presentation supports the assumption of an inherited genetic predisposition to develop medulloblastoma in at least some cases.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310050507

    Articles: DFG German National Licenses
  11. 11
    Scheurlen, W. ; Sörensen, N. ; Roggendorf, W. ; Kühl, J.
    Springer
    Published 1996
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Medulloblastoma ; Monozygotic twins ; Loss of heterozygosity ; Chromosome l7p 13 and 9g31
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report male monocygotic twins with concordant desmoplastic medulloblastoma diagnosed at the age of 20 months. Both tumours were completely removed. As chromosomal loci 17p13 and 9831 are frequently altered in medulloblastoma these regions were analysed in both tumours in detail using restriction fragment length polymorphism and microsatellite analysis. No common aberration was found. The c-myc gene on chromosome 8g21 was not amplified.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF02282838

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Ureaplasma urealyticum ; Endotracheal aspirates ; Ventilated newborns ; Polymerase chain reaction
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Ureaplasma urealyticum infection has been considered to play an important role in the development of bronchopulmonary dysplasia (BPD) in premature infants. Since standard culture methods ofU. urealyticum are difficult to perform, new rapid and sensitive methods are needed to detect lung infection of ventilated newborns. Here we describe the polymerase chain reaction as a rapid method to screen endotracheal aspirates for ureaplasma infection. Urease-specific sequences could only be detected in 1 out of 36 ventilated newborns. The procedure described in this paper may facilitate further studies to determine the role ofU. urealyticum in development of BPD.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01959080

    Articles: DFG German National Licenses
  13. 13
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words Promyelocytic ; leukaemia ; Atypical translocation ; Rearrangement ; reverse transcribed ; polymerase chain reaction
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract We report a 16-year-old girl who presented with anaemia, thrombocytopenia, leukocytosis and disseminated intravascular coagulation. Bone marrow analysis showed promyelocyte-like myeloblasts with rare Auer rods and very few granula. CD2 antigen was not expressed in bone marrow blasts. Karyotype analysis revealed a complex pattern of chromosomal aberrations without the promyelocytic leukaemia (PML) specific translocation t(15;17) (q22;q21). Southern blot analysis revealed a rearrangement of the retinoic acid receptor alpha (RARα) locus. Reverse transcribed polymerase chain reaction assay confirmed the initial diagnosis of PML by amplification of the PML-specific PML/RARα fusion transcript. Conclusion This case report confirms that a characteristic translocation t(15;17) is not always detectable in PML blasts by karyotype analysis despite presence of specific PML/RARα-transcripts. Together with careful morphological analysis of bone marrow blasts this assay apparently is the most specific and sensitive method to confirm the diagnosis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004310050306

    Articles: DFG German National Licenses