Alimena G, Hagemeijer A, Bakhuis J, De Cuia M R, Diverio D, Montefusco E
Cancer Genet Cytogenet. 1987 Jul;27(1):21-6. doi: 10.1016/0165-4608(87)90255-x.
A case of typical chronic myeloid leukemia with an apparently Philadelphia-negative karyotype is described. Molecular studies confirmed the cytogenetic interpretation of a standard Ph rearrangement, with secondary involvement of 22q- in a translocation with chromosome #5, leading to its masking. The chromosomal regions engaged in the standard t(9;22) were not modified and the molecular rearrangements of Ph were also conserved. The hematologic and clinical features were apparently not influenced by the events leading to the masking of Ph. Further similar observations with both cytogenetic and molecular characterization are needed to better identify the possible clinical consequences of these complex changes.
本文描述了一例典型的慢性髓性白血病，其核型明显为费城染色体阴性。分子研究证实了标准费城染色体重排的细胞遗传学解释，即22号染色体长臂（22q-）在与5号染色体的易位中发生继发性受累，导致其被掩盖。参与标准t(9;22)的染色体区域未发生改变，费城染色体的分子重排也得以保留。血液学和临床特征显然未受导致费城染色体被掩盖事件的影响。需要更多兼具细胞遗传学和分子特征的类似观察结果，以更好地确定这些复杂变化可能产生的临床后果。
