Anastasi J, Thangavelu M, Vardiman J W, Hooberman A L, Bian M L, Larson R A, Le Beau M M
Department of Pathology, University of Chicago, IL.
Blood. 1991 Mar 1;77(5):1087-91.
We used in situ hybridization with a probe for the X chromosome to study interphase cells of bone marrow and peripheral blood specimens from a male patient with acute lymphoblastic leukemia characterized by hyperdiploidy, including trisomy X. In a posttreatment bone marrow specimen, which was interpreted as a regenerating bone marrow morphologically and which demonstrated a normal karyotype cytogenetically, trisomy X was found in 16 of 1,000 interphase cells. This finding indicated the presence of leukemic cells that were undetected by conventional morphologic and cytogenetic techniques (ie, minimal residual disease). Cytogenetic studies of a relapse specimen obtained after a sex-mismatched bone marrow transplant showed only a normal female karyotype in each of 40 metaphase cells, suggesting that the relapse occurred in donor cells. However, interphase analysis demonstrated trisomy X in more than 80% of interphase cells and indicated that the relapse was of the original clone and was not a transformation of donor cells. This case illustrates that interphase analysis can be useful as an adjunct to conventional cytogenetic analysis in the detection of minimal residual disease and in the analysis of interphase cells that are not accessible to routine cytogenetic methods. It also illustrates that previously reported instances of relapse of leukemia in donor cells could have been incorrect if supported by cytogenetic data alone.
我们使用针对X染色体的探针进行原位杂交，以研究一名患有以超二倍体（包括X三体）为特征的急性淋巴细胞白血病男性患者的骨髓和外周血标本的间期细胞。在一份治疗后的骨髓标本中，形态学上被解释为再生骨髓，细胞遗传学上显示核型正常，但在1000个间期细胞中有16个发现了X三体。这一发现表明存在常规形态学和细胞遗传学技术未检测到的白血病细胞（即微小残留病）。对一次性别不匹配的骨髓移植后获得的复发标本进行的细胞遗传学研究显示，在40个中期细胞中，每个细胞的核型均为正常女性核型，提示复发发生在供体细胞中。然而，间期分析显示超过80%的间期细胞存在X三体，表明复发是原始克隆性的，而非供体细胞的转化。该病例说明，间期分析作为常规细胞遗传学分析的辅助手段，在检测微小残留病以及分析常规细胞遗传学方法无法检测的间期细胞时可能有用。它还说明，如果仅依据细胞遗传学数据，先前报道的白血病在供体细胞中复发的实例可能是错误的。
