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Ringversuch zum Nachweis genomischer Veränderungen bei Non-Hodgkin-Lymphomen mittels In-situ-Hybridisierung

Round robin test for detection of genomic aberrations in non-Hodgkin lymphoma by in situ hybridization

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Zusammenfassung

Hintergrund

Die Detektion charakteristischer genomischer Aberrationen mittels nicht radioaktiver In-situ-Hybridisierung (ISH) hat nach den Vorschlägen der World Health Organization (WHO) eine wichtige Rolle in der Lymphomdiagnostik. Um die Reproduzierbarkeit entsprechender Analysen zu untersuchen, wurde ein Ringversuch mit acht Instituten für Hämatopathologie durchgeführt.

Material und Methoden

Untersucht wurden zwei diffuse großzellige B-Zell-Lymphome (DLBCL) ohne bekannte Aberrationen, ein follikuläres Lymphom mit IGH/BCL2-Translokation und BCL6-Bruch und zwei B-Zell-Lymphome intermediär zwischen DLBCL und Burkitt-Lymphom mit c-MYC und BCL2-Rearrangement, eines zusätzlich mit BCL6-Bruch. Eingesetzt wurden bruchpunktflankierende Sonden für BCL6 und c-MYC und Fusionssonden für die c-MYC/IGH - und die IGH/BCL2-Translokation.

Ergebnisse

Alle Aberrationen wurden übereinstimmend von allen Zentren richtig detektiert; es gab keine falsch-positiven oder falsch-negativen Ergebnisse. Die Zahl der jeweils als positiv gewerteten Zellen variierte zwischen 25% und 94%. Der Pearson-Korrelationskoeffizient zwischen den Zentren war stets > 0,8.

Schlussfolgerung

Die ISH-Analytik an Paraffingewebe ist eine gut reproduzierbare Technik, die die molekularpathologische Lymphomdiagnostik erheblich stützen kann.

Abstract

Background

The detection of characteristic genomic aberrations by fluorescence in situ hybridization (FISH) has a high diagnostic impact on lymphomas according to the World Health Organization (WHO). To investigate the reproducibility of non-isotopic ISH results a multicenter trial was carried out involving eight institutes for hematopathology.

Material and methods

Analyses were performed on two diffuse large B-cell lymphomas (DLBCL) without known aberrations, on one follicular lymphoma with a IGH/BCL2 translocation and BCL6 split and on two B-cell lymphomas intermediate between DLBCL and Burkitt’s lymphoma with c-MYC and BCL2 rearrangements, one with an additional BCL6 split. Break-apart probes for BCL6 and c-MYC, as well as fusion probes for the c-MYC/IGH and the IGH/BCL2 translocations were used.

Results

All aberrations were correctly detected by all centres and no false positive or false negative results were obtained. The numbers of positive cells varied from 25% to 94%. Pearson’s correlation coefficient between the centres was always > 0.8.

Conclusions

The ISH analysis of recurrent genomic aberrations in formalin-fixed paraffin-embedded (FFPE) tissue is a highly reproducible technique which yields substantial additive help for lymphoma diagnostics.

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Abbreviations

ISH:

In-situ-Hybridisierung

FISH:

Fluoreszenz-In-situ-Hybridisierung

WHO:

World Health Organization

DLBCL:

diffuses großzelliges B-Zell-Lymphom

NHL:

Non-Hodgkin-Lymphom

FFPE tissue:

„Formalin-fixed, paraffin-embedded tissue”

CISH:

Chromogen-In-situ-Hybridisierung

BAP:

„Break-apart“-Probe, eine Bruchpunkt-flankierende Sonde

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Interessenkonflikt

Der korrespondierende Autor gibt für sich und seine Koautoren an, dass kein Interessenkonflikt besteht.

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Authors and Affiliations

  1. Institut für Pathologie, Universitätsklinikum Ulm, Albert-Einstein-Allee 23, 89070, Ulm, Deutschland

    T.F.E. Barth, L. Floßbach, M. Buck, T. Mattfeldt & P. Möller

  2. Institut für Pathologie, Kantonsspital St. Gallen, St. Gallen, Schweiz

    S.B. Cogliatti & D. Kradolfer

  3. Institut für Pathologie, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Deutschland

    H.-W. Bernd, A.C. Feller & C. Thorns

  4. Senckenbergisches Institut für Pathologie, Klinikum der Johann-Wolfgang-Goethe-Universität, Frankfurt am Main, Deutschland

    M.L. Hansmann & S. Hartmann

  5. Sektion Hämatopathologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Deutschland

    W. Klapper

  6. Pathologisches Institut, Julius-Maximilians-Universität Würzburg, Würzburg, Deutschland

    A. Rosenwald

  7. Pathodiagnostik Berlin, Berlin, Deutschland

    R. Bob & H. Stein

  8. Abteilung für Pathologie, Robert-Bosch Krankenhaus Stuttgart, Stuttgart, Deutschland

    H. Horn & G. Ott

Authors
  1. T.F.E. Barth
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  2. L. Floßbach
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  6. S.B. Cogliatti
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  9. S. Hartmann
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  10. H. Horn
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  11. W. Klapper
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  13. T. Mattfeldt
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  14. P. Möller
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  15. A. Rosenwald
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  16. H. Stein
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  17. C. Thorns
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  18. G. Ott
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Corresponding author

Correspondence to T.F.E. Barth.

Additional information

T.F.E. Barth und L. Floßbach, geteilte Erstautorenschaft.

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Barth, T., Floßbach, L., Bernd, HW. et al. Ringversuch zum Nachweis genomischer Veränderungen bei Non-Hodgkin-Lymphomen mittels In-situ-Hybridisierung. Pathologe 34, 329–334 (2013). https://doi.org/10.1007/s00292-012-1719-0

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  • DOI: https://doi.org/10.1007/s00292-012-1719-0

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