Schoch C, Bursch S, Kern W, Schnittger S, Hiddemann W, Haferlach T
Department of Internal Medicine III, University Hospital Grosshadern, Ludwig-Maximilians-University, Marchioninistrass 15, 81377 Munich, Germany.
Cancer Genet Cytogenet. 2001 May;127(1):85-8. doi: 10.1016/s0165-4608(00)00424-6.
In acute myeloid leukemia (AML) close associations are known between cytomorphology and cytogenetics such as in AML M3/M3v showing a t(15;17) and in AML M4eo associated with inv(16)/t(16;16). In AML M5 a heterogenous cytogenetic pattern is observed. We describe the gain of an isochromosome of the short arm of chromosome 5 together with the gain of chromosome 8 as the sole abnormalities in two cases of acute monoblastic leukemia. In a third case of acute monoblastic leukemia we also observed the gain of an isochromosome 5p together with trisomy 8. This patient showed in addition an unbalanced translocation between the long arm of chromosome 1 and the short arm of chromosome 14 leading to a trisomy 1q. So far only two cases of AML with i(5)(p10) have been published. In no other hematological malignancy has an isochromosome 5p been reported up to now. As an isochromosome 5p can be misinterpreted as a deletion 5q, which occurs frequently in AML, fluorescence in situ hybridization with loci specific probes is a helpful method to detect this rare abnormality.
在急性髓系白血病(AML)中,细胞形态学与细胞遗传学之间存在密切关联,例如AML M3/M3v显示t(15;17),AML M4eo与inv(16)/t(16;16)相关。在AML M5中观察到一种异质性细胞遗传学模式。我们描述了在两例急性单核细胞白血病中,5号染色体短臂等臂染色体的获得以及8号染色体的获得是唯一的异常情况。在第三例急性单核细胞白血病中,我们还观察到5号染色体短臂等臂染色体的获得以及8号染色体三体。该患者还显示出1号染色体长臂与14号染色体短臂之间的不平衡易位,导致1q三体。到目前为止,仅发表了两例伴有i(5)(p10)的AML病例。迄今为止,在其他血液系统恶性肿瘤中尚未报道过5号染色体短臂等臂染色体。由于5号染色体短臂等臂染色体可能被误判为AML中常见的5q缺失,使用位点特异性探针进行荧光原位杂交是检测这种罕见异常的一种有用方法。