Wlodarska I, Stul M, De Wolf-Peeters C, Verhoef G, Mecucci C, Cassiman J J, Van den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Genes Chromosomes Cancer. 1994 Jul;10(3):171-6. doi: 10.1002/gcc.2870100304.
Translocation t(1;19)(q23;p13) plays a crucial role in the pathogenesis of childhood pre-B cell leukemia and results in the formation of a fusion gene E2A-PBX1 that encodes a hybrid transcription factor with oncogenic potential. Here we describe two cases, one follicular lymphoma and one acute lymphoblastic leukemia/lymphoma, characterized by a complex karyotype including t(14;18), t(8;14), as well as t(1;19). Molecular studies in both cases failed to show rearrangements of the E2A gene. These results suggest that the t(1;19) found as a secondary chromosome change in t(14;18)-positive lymphoma/leukemia might be a molecular variant of the t(1;19) that is typical of childhood pre-B cell leukemia.
易位t(1;19)(q23;p13)在儿童前B细胞白血病的发病机制中起关键作用，并导致融合基因E2A-PBX1的形成，该基因编码一种具有致癌潜力的杂交转录因子。在此，我们描述了两例病例，一例为滤泡性淋巴瘤，另一例为急性淋巴细胞白血病/淋巴瘤，其特征为复杂核型，包括t(14;18)、t(8;14)以及t(1;19)。两例病例的分子研究均未显示E2A基因重排。这些结果表明，在t(14;18)阳性淋巴瘤/白血病中作为继发性染色体改变发现的t(1;19)可能是儿童前B细胞白血病典型的t(1;19)的分子变体。
