Schoch C, Rieder H, Freund M, Hoelzer D, Riehm H, Fonatsch C
Arbeitsgruppe Tumorcytogenetik, Medizinische Universität zu Lübeck, Germany.
Ann Hematol. 1995 Apr;70(4):195-201. doi: 10.1007/BF01700375.
The translocation t(4;11)(q21;q23) is one of the most common specific chromosomal aberrations in acute lymphoblastic leukemia (ALL), occurring in 2% of childhood and in 5-6% of adult cases. Especially in adults, the t(4;11) is associated with a poor prognosis. In order to determine the significance of clonal chromosome aberrations that occur in addition to t(4;11), we studied the karyotypes and clinical courses of 23 patients with acute lymphoblastic leukemia and a translocation t(4;11)(q21;q23). Additional clonal chromosome aberrations were found in ten patients. An isochromosome i(7)(q10) and a trisomy 6 were observed most frequently as secondary anomalies. Clonal evolution was detected in four of six patients analyzed at diagnosis as well as at relapse. With treatment carried out according to modern risk-adapted therapy protocols, no difference in outcome was observed between patients with clonal chromosome aberrations in addition to t(4;11) at diagnosis and those without.
易位t(4;11)(q21;q23)是急性淋巴细胞白血病(ALL)中最常见的特定染色体畸变之一,在2%的儿童病例和5 - 6%的成人病例中出现。特别是在成人中,t(4;11)与预后不良相关。为了确定除t(4;11)外发生的克隆性染色体畸变的意义,我们研究了23例急性淋巴细胞白血病且伴有易位t(4;11)(q21;q23)患者的核型和临床病程。在10例患者中发现了额外的克隆性染色体畸变。等臂染色体i(7)(q10)和三体6作为继发性异常最为常见。在诊断时以及复发时分析的6例患者中有4例检测到克隆进化。按照现代风险适应性治疗方案进行治疗,诊断时除t(4;11)外伴有克隆性染色体畸变的患者与无此类畸变的患者在结局上未观察到差异。