Bagby G C, Kaiser-McCaw B, Hecht F, Koler R D, Linman J W
Blood. 1978 Jun;51(6):997-1004.
Hemopoietic cells in chronic granulocytic leukemia (CGL) frequently contain a chromosome translocation involving chromosome 22 and another autosome, usually number 9. The translocated chromosome 22 is known as the Philadelphia (Ph) chromosome. The appearance of a second Ph chromosome is the most common cytogenetic abnormality in CGL signaling the blastic phase. For 6 yr we serially studied a man with atypical CGL whose marrow cells were marked by a translocation from chromosome 18 to chromosome 11 [46XY,t(11;18)(q23;q12)]. Three months prior to blast transformation there appeared an extra copy of the marker chromosome 18: 47XY,t(11;18)(q23;q12),+(18p11 leads to 18q12). This man presents a new cytogenetic pattern of clonal evolution in CGL. The pattern is analogous to that of the Ph chromosome and is characterized by a balanced chromosomal rearrangement and the subsequent acquisition of an extra copy of the small translocation chromosome immediately prior to blast transformation.
慢性粒细胞白血病（CGL）中的造血细胞经常含有一种涉及22号染色体和另一条常染色体（通常是9号染色体）的染色体易位。易位后的22号染色体被称为费城（Ph）染色体。第二条Ph染色体的出现是CGL向原始细胞阶段转变时最常见的细胞遗传学异常。6年来，我们对一名非典型CGL男性患者进行了连续研究，其骨髓细胞的特征是发生了从18号染色体到11号染色体的易位[46XY，t(11;18)(q23;q12)]。在原始细胞转化前3个月，出现了一条额外的18号标记染色体：47XY，t(11;18)(q23;q12)，+(18p11导致18q12)。该患者呈现出CGL克隆进化的一种新的细胞遗传学模式。这种模式类似于Ph染色体的模式，其特征是染色体平衡重排，以及在原始细胞转化前立即获得一条额外的小易位染色体拷贝。
