Hoppman-Chaney Nicole L, Cherry Daniel, Holladay Charles, Yuhas Jason, Wang Rich, Velagaleti Gopalrao
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Cancer Genet Cytogenet. 2010 Mar;197(2):179-84. doi: 10.1016/j.cancergencyto.2009.10.015.
Constitutional activation of the MYC proto-oncogene resulting from a t(8;14) has been demonstrated in approximately 80% of Burkitt lymphoma patients, but only in one case of acute myeloid leukemia (AML). We report on a 59-year-old female diagnosed with minimally differentiated AML (M0). Chromosome analysis demonstrated both a 7q deletion and a t(8;14). Fluorescence in situ hybridization studies confirmed MYC/IGH fusion in 35% of nuclei, but the translocation was atypical due to lack of immunoglobulin heavy chain (IGH) gene disruption. Such an atypical fusion has never been reported, so the effect on MYC regulation due to proximity of IGH regulatory elements is unknown. Real-time polymerase chain reaction analysis demonstrated no increase in MYC expression (P = 0.12). These results suggest that this novel translocation does not result in dysregulation of MYC expression, so this is likely to be a coincidental, benign finding in this patient. This is yet another example of a classic cytogenetic abnormality observed on conventional chromosome analysis which has no functional significance.
在大约80%的伯基特淋巴瘤患者中已证实,由t(8;14)导致的MYC原癌基因的组成性激活,但仅在1例急性髓系白血病(AML)患者中出现过。我们报告了1例59岁诊断为微分化AML(M0)的女性患者。染色体分析显示存在7号染色体长臂缺失和t(8;14)。荧光原位杂交研究证实35%的细胞核中有MYC/IGH融合,但由于缺乏免疫球蛋白重链(IGH)基因破坏,该易位不典型。这种非典型融合从未被报道过,因此IGH调控元件的接近对MYC调控的影响尚不清楚。实时聚合酶链反应分析显示MYC表达无增加(P = 0.12)。这些结果表明,这种新的易位不会导致MYC表达失调,因此这在该患者中可能是一个巧合的良性发现。这是常规染色体分析中观察到的经典细胞遗传学异常无功能意义的又一个例子。