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Blood, 15 September 2000, Vol. 96, No. 6, pp. 2215-2218
NEOPLASIA
Detection of t(11;18)(q21;q21) by interphase fluorescence in situ
hybridization using API2 and MLT
specific probes
Judith Dierlamm,
Mathijs Baens,
Margarita Stefanova-Ouzounova,
Kristina Hinz,
Iwona Wlodarska,
Brigitte Maes,
Anja Steyls,
Ann Driessen,
Gregor Verhoef,
Philippe Gaulard,
Anne Hagemeijer,
Dieter Kurt Hossfeld,
Christiane De
Wolf-Peeters, and
Peter Marynen
From the Department of Oncology and Hematology,
University Hospital Eppendorf, Hamburg, Germany; the Center for Human
Genetics and Flanders Interuniversity Institute for Biotechnology and
the Departments of Pathology and Hematology, University of Leuven,
Leuven, Belgium; and the Department of Pathology, Centre Hospitalier
Universitaire Henri Mondor, Créteil, France.
The translocation of chromosome 11, long arm, region 2, band 1, to
chromosome 18, long arm, region 2, band 1 (t(11;18)(q21;q21)) represents a recurrent chromosomal abnormality in extranodal marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (MALT) type and leads to a fusion of the apoptosis inhibitor-2 (API2) gene on chromosome 11 and the MALT
lymphoma-associated translocation (MLT) gene on
chromosome 18. A 2-color fluorescence in situ hybridization
(FISH) assay, which can be used for the detection of t(11;18) in
interphase nuclei and metaphase chromosomes on fresh and archival tumor
tissue, was developed. The P1 artificial chromosome (PAC) clone located
immediately telomeric to the MLT gene and the PAC clone
spanning the API2 gene were differentially labeled and used
to visualize the derivative chromosome 11 resulting from t(11;18), as
evident by the overlapping or juxtaposed red and green fluorescent
signals. The assay was applied to interphase nuclei of 20 cases with
nonmalignant conditions and 122 B-cell non-Hodgkin's lymphomas (NHLs).
The latter group comprised 20 cases of nodal follicle center cell
lymphoma and diffuse large B-cell NHL, 10 cases of gastric diffuse
large B-cell lymphoma, 10 cases of hairy cell leukemia, and 82 cases of
MZBCL (41 extranodal from various locations, 19 nodal, and 22 splenic
MZBCL) including 35 cases with an abnormal karyotype, 2 of which
revealed t(11;18). By interphase FISH, t(11;18) was detected in 8 gastrointestinal low-grade MALT-type lymphomas including the 2 cytogenetically t(11;18)+ cases. In the 8 t(11;18)+ cases, the FISH results were confirmed by
reverse transcriptase-polymerase chain reaction (RT-PCR) using
API2 and MLT specific primers. Our results
indicate that t(11;18)(q21;q21) specifically characterizes a
subgroup of low-grade MZBCL of the MALT-type and that the FISH assay
described here is a highly specific and rapid test for the detection of
this translocation.
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