t(1;2)(q21;p23) and t(2;3)(p23;q21): Two Novel Variant Translocations of the t(2;5)(p23;q35) in Anaplastic Large Cell Lymphoma
1999; Elsevier BV; Volume: 94; Issue: 1 Linguagem: Inglês
10.1182/blood.v94.1.362.413a45_362_364
ISSN1528-0020
AutoresAndreas Rosenwald, German Ott, Karen Pulford, Tiemo Katzenberger, Joachim Kühl, Jörg Kalla, Michaela Ott, David Y. Mason, Hans Konrad Müller‐Hermelink,
Tópico(s)Sarcoma Diagnosis and Treatment
ResumoCytogenetic investigations in two cases of anaplastic large cell lymphoma (ALCL) showed novel variants of the classical (2;5)(p23;q35) translocation, namely a t(1;2)(q21;p23) and a t(2;3)(p23;q21). The tumor cells in both cases gave positive immunohistochemical labeling for ALK protein (with both monoclonal and polyclonal antibodies), demonstrating that these translocations induce aberrant expression of this kinase and suggesting that genes other than NPM can activate the ALK gene in ALCL. These two cases were shown by an in vitro kinase assay to express ALK kinases (104 kD and 97 kD, respectively), which differed in size from the classical NPM-ALK fusion product (80 kD). Moreover, ALK expression was confined to the cytoplasm of the tumor cells in each case, supporting the hypothesis that the observed nuclear localization of NPM-ALK in classical ALCL is not the site of oncogenic activity of the ALK kinase.
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