Fosså A, Siebert R, Kasper C, Becher R, Opalka B, Thiel E, Seeber S, Nowrousian M R
Department of Internal Medicine (Cancer Research), University Hospital of Essen, Germany.
Br J Haematol. 1996 May;93(2):403-5.
The incidence and clinical relevance of the Philadelphia (Ph) translocation t(9:22) (q34:q11) in T-lineage acute lymphoblastic leukaemia (ALL) are unknown. We describe a patient with pre-T-ALL and a clonal 22q-aberration detected by conventional cytogenetics, suggestive of a Ph translocation. However, fluorescence in situ hybridization (FISH) using BCR and ABL probes revealed a translocation with one breakpoint within the BCR gene on chromosome 22 without juxtaposition of ABL on chromosome 9. We discuss the diagnostic and possible pathogenetic implications of this Ph-like chromosomal aberration.
费城(Ph)染色体易位t(9:22) (q34:q11)在T系急性淋巴细胞白血病(ALL)中的发生率及临床相关性尚不清楚。我们描述了一名前T-ALL患者,通过传统细胞遗传学检测到克隆性22号染色体异常,提示存在Ph染色体易位。然而,使用BCR和ABL探针的荧光原位杂交(FISH)显示,22号染色体上BCR基因内有一个断点发生易位,但9号染色体上的ABL并未并列。我们讨论了这种Ph样染色体异常的诊断及可能的致病意义。