Title: ALK-positive large B-cell lymphomas with cryptic SEC31A-ALK and NPM1-ALK fusions
Authors: Van Roosbroeck, Katrien
Cools, Jan
Dierickx, Daan
Thomas, José
Vandenberghe, Peter
Stul, Michel
Delabie, Jan
Peeters, Christiane
Marynen, Peter
Wlodarska, Iwona # ×
Issue Date: Mar-2010
Publisher: Il Pensiero Scientifico
Series Title: Haematologica vol:95 issue:3 pages:509-513
Abstract: We report 2 ALK-positive large B-cell lymphoma cases showing granular cytoplasmic and cytoplasmic/nuclear ALK immunostaining in which cryptic ALK rearrangements were identified by fluorescent in situ hybridization and molecular analysis. In the first case, the ALK-involving t(2;3)(p23;q27) masked the cryptic SEC31A-ALK fusion generated by an insertion of the 5' end of SEC31A (4q21) upstream of the 3' end of ALK. This rearrangement was associated with loss of the 5' end of ALK and duplication of SEC31A-ALK on der(20). In the second case with complex rearrangements of both chromosomes 2, a submicroscopic NPM1-ALK fusion created by insertion of the 3' end of ALK into the NPM1 locus was evidenced. Further studies of SEC31A-ALK showed that this variant fusion transforms IL3-dependent Ba/F3 cells to growth factor independence, and that the ALK inhibitor TAE-684 reduces cell proliferation and kinase activity of SEC31A-ALK and its downstream effectors ERK1/2, AKT, STAT3 and STAT5.
ISSN: 0390-6078
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Malignant Disorders
Department of Oncology - miscellaneous
Clinical Genetics
Translational Cell & Tissue Research
× corresponding author
# (joint) last author

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