Paietta E, Van Ness B, Le Beau M M, Bennett J, Cassileth P, Wiernik P H
Department of Oncology, Montefiore Medical Center, Bronx, New York 10467.
Cancer Genet Cytogenet. 1992 May;60(1):82-5. doi: 10.1016/0165-4608(92)90238-4.
A case is reported of an adult male patient with acute leukemia characterized by the presence of the novel cytogenetic abnormality, t(2;9)(p12;p23), in addition to a t(4;11)(q21;q23). The immunophenotype of the blast cell population was consistent with immature early pre-B cell acute lymphoblastic leukemia (ALL) (TdT+,HLA-DR+,CD19+,CD24 +/-,CD10-) expressing myelo-monocytic antigens (CDw65,CD15). The genotype showed a clonal rearrangement of the immunoglobulin heavy chain locus. Because the immunoglobulin kappa (kappa) light chain gene is located on chromosome 2 at band p12 and interferon alpha (alpha) and beta (beta) map to chromosome 9p21-p22, rearrangements of these loci as a result of the t(2;9) were studied. There was no evidence for rearrangement of the region covering about 40 kilobases around the kappa locus when hybridized to C(kappa), the 3' kappa enhancer or the kappa deleting element. Only germline size restriction fragments were also found for the interferon alpha and beta genes. The patient's clinical features were typical for ALL associated with the t(4;11), including a high white blood cell count at presentation, hepatosplenomegaly, and a poor outcome. The potential significance of 2p and 9p abnormalities in addition to t(4;11) is discussed.
报告了一例成年男性急性白血病患者，其特征为除了存在t(4;11)(q21;q23)外，还存在新的细胞遗传学异常t(2;9)(p12;p23)。原始细胞群体的免疫表型与不成熟的早期前B细胞急性淋巴细胞白血病（ALL）一致（末端脱氧核苷酸转移酶阳性、人类白细胞抗原DR阳性、CD19阳性、CD24弱阳性/阴性、CD10阴性），表达髓单核细胞抗原（CDw65、CD15）。基因型显示免疫球蛋白重链基因座的克隆性重排。由于免疫球蛋白κ（kappa）轻链基因位于2号染色体的p12带，干扰素α（alpha）和β（beta）定位于9号染色体的p21 - p22，因此研究了t(2;9)导致的这些基因座的重排。当与C(kappa)、3' kappa增强子或kappa缺失元件杂交时，没有证据表明kappa基因座周围约40千碱基的区域发生重排。干扰素α和β基因也仅发现种系大小的限制性片段。该患者的临床特征是与t(4;11)相关的ALL的典型表现，包括就诊时白细胞计数高、肝脾肿大以及预后不良。讨论了除t(4;11)外2号和9号染色体异常的潜在意义。
