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  • 1
    ISSN: 1432-2307
    Keywords: Myelodysplastic syndrome ; Myelofibrosis ; Cytogenetics ; Histopathology ; Bone marrow biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Chromosome analyses of bone marrow and peripheral blood cells were performed in a total of 51 patients with myelodysplastic syndromes (MDS) simultaneously with histopathological examination of resinembedded bone marrow biopsies. Diagnosis of MDS was established by histopathology according to the French-American-British (FAB) classification, and reassessed by haematological data and clinical course. Clonal karyotypic changes were found in 30 of the 51 patients (59%): in 15 of 19 (79%) patients with refractory anaemia, 7 of 11 (64%) with refractory anaemia and excess of blasts (RAEB), 6 of 10 (60%) with RAEB in transformation, and 2 of 11 (18%) with chronic myelomonocytic leukaemia. The following three features of the histopathology revealed positive correlations with karyotype abnormalities: all cases of myelofibrosis in MDS (7/51) were accompanied by chromosome aberrations, microforms of megakaryocytes with reduced nuclear lobulation were observed in 18 of 30 cases with karyotype changes, and hypocellularity of haematopoiesis was associated with aberrations of chromosome 7 in 2 of 4 cases. No positive correlations were revealed between abnormal karyotypes and the transformation to acute leukaemia. The survival times were significantly decreased in patients with complex (3 and more) karyotype changes, when compared with patients with single (1–2) chromosome aberrations or normal karyotype, independently of the FAB classification.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Chronische myeloproliferative Erkrankungen ; Philadelphia-Translokation ; Zytogenetik ; Molekulargenetik ; Fluoreszenz-in-situ-Hybridisierung ; Histopathologie ; Key words Chronic myeloproliferative disorders ; Philadelphia-translocation ; Cytogenetics ; Molecular genetics ; Fluorescence in situ hybridization ; Histopathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The histopathological classification of chronic myeloproliferative disorders can be supported by applying cytogenetics and molecular genetics to the analysis of bone marrow or blood cells, as demonstrated in 253 cases evaluated. The Philadelphia translocation (9;22) is the most important genetic parameter, being specific for chronic myeloid leukemia. Conventional methods for the detection of the t(9;22) are karyotyping and Southern blot analysis of the bcr gene. The newly established technique of fluorescence in situ hybridization (FISH) allows visualization of bcr-abl fusion even in non dividing cells. Molecular cytogenetics for t(9;22) yield results that are rapid and reliable as well as easily quantifiable.
    Notes: Zusammenfassung Zytogenetische und molekulargenetische Untersuchungen von Knochenmark- oder Blutzellen sind für die histopathologische Klassifikation der chronischen myeloproliferativen Erkrankungen hilfreich, was durch die simultane Auswertung von 253 Fällen gezeigt wird. Insbesondere die Analyse der Philadelphia-Translokation (9;22) ist dabei für die Bestätigung oder den Ausschluß einer chronischen myeloischen Leukämie wichtig. Für den Nachweis der t(9;22) stehen die konventionelle Karyotypisierung mit Bestimmung des Philadelphia-Chromosoms und das Southernblotverfahren zur Analyse einer Umlagerung des bcr-Gens zur Verfügung. Durch die neuere Methode der Fluoreszenz-in-situ-Hybridisierung (FISH) kann auch eine bcr-abl-Fusion an Interphasekernen dargestellt werden. Diese molekulare Zytogenetik ist ein rasches und zuverlässiges Verfahren zum Nachweis der Philadelphia-Translokation, das zudem leicht quantifizierbare Ergebnisse liefert.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1963
    Keywords: Schlüsselwörter Myelodysplastisches Syndrom ; Knochenmark ; Zytogenetik ; Histopathologie ; Prognose ; Key words Myelodysplastic syndrome ; Bone marrow ; Cytogenetics ; Histopathology ; Prognosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The value of cytogenetics performed simultaneously with histopathology was evaluated in patients with myelodysplastic syndrome (MDS). Clonal karyotype changes of the bone marrow cells supporting the histological diagnosis were found in 38/69 cases (55 %). The chromosome aberrations, especially complex changes, were significantly correlated to distinct histopathological findings such as atypias of the haematopoietic cell lines and myelosclerosis. Complex karyotype changes were further associated with short survival of the MDS patients. Our results demonstrate that cytogenetic analyses are helpful in supplementing the histopathological diagnoses. Recent developments in molecular cytogenetics even allow the detection of chromosomal aberrations in non-dividing cells from cytological preparations or tissue sections which may become available for routine diagnosis.
    Notes: Zusammenfassung Die Bedeutung simultaner zytogenetischer und histologischer Untersuchungen wurde bei Patienten mit myelodysplastischem Syndrom (MDS) überprüft. Die Ergebnisse zeigen, daß klonale Karyotypveränderungen der Knochenmarkzellen bei 38 der 69 (55 %) analysierten Patienten auftraten und damit häufig eine Absicherung der histologischen Diagnose erlaubten. Die Chromosomenanomalien, insbesondere komplexe Karyotypveränderungen, korrelierten signifikant mit einer Reihe histopathologischer Befunde, darunter Atypien der einzelnen hämatologischen Zellreihen und Myelosklerose. Durch den Nachweis komplexer Karyotypveränderungen war eine unabhängige prognostische Aussage möglich. Damit zeigen unsere Ergebnisse am Beispiel des MDS, daß zytogenetische Analysen eine sinnvolle Ergänzung der histologischen Untersuchung sein können. Darüber hinaus ist durch den Einsatz der molekularen Zytogenetik die Bestimmung von Chromosomenanomalien in zytologischen Ausstrichpräparaten oder Gewebeschnitten möglich, wodurch sich solche Befunde auch für die tägliche Diagnostik verwenden lassen.
    Type of Medium: Electronic Resource
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