Czuchlewski David R, Farzanmehr Haleh, Robinett Sheldon, Haines Skip, Reichard Kaaren K
Department of Pathology, University of New Mexico, Albuquerque, NM, USA.
Cancer Genet. 2011 Oct;204(10):572-6. doi: 10.1016/j.cancergen.2011.10.006.
The diagnosis of hematologic malignancy can be greatly aided by the detection of a cytogenetic abnormality. However, care must be taken to ensure that constitutional chromosomal abnormalities are not misattributed to a putative population of malignant cells. Here we present an unusual case in which a constitutional balanced t(9;22)(q34;q11.2) cytogenetically mimicked the acquired, t(9;22)(q34;q11.2), that is characteristic of chronic myeloid leukemia. Of special note, fluorescence in situ hybridization (FISH) analysis for this constitutional translocation (9;22)(q34;q11.2) using standard probes for BCR and ABL1 resulted in an abnormal pattern that was potentially misinterpretable as a BCR-ABL1 fusion. This is the first reported FISH analysis of a constitutional t(9;22)(q34;q11.2), and overall only the second report of such an abnormality. In light of the isolated prior report, our case also suggests that the constitutional t(9;22)(q34;q11.2) is one of the very few recurrent constitutional non-Robertsonian translocations described in humans. Our case underscores the necessity of complete clinical and laboratory correlation to avoid misdiagnosis of myeloid malignancy in the setting of rare constitutional cytogenetic abnormalities.
细胞遗传学异常的检测对血液系统恶性肿瘤的诊断有很大帮助。然而，必须注意确保不会将先天性染色体异常错误地归因于假定的恶性细胞群体。在此，我们报告一例罕见病例，其中先天性平衡易位t(9;22)(q34;q11.2)在细胞遗传学上模拟了慢性髓性白血病特有的获得性t(9;22)(q34;q11.2)。特别值得注意的是，使用针对BCR和ABL1的标准探针，对这种先天性易位(9;22)(q34;q11.2)进行荧光原位杂交(FISH)分析，结果显示出一种异常模式，可能会被误判为BCR-ABL1融合。这是首次报道的对先天性t(9;22)(q34;q11.2)的FISH分析，总体而言，此类异常的报道仅有两例。鉴于之前仅有一篇孤立的报道，我们的病例还表明，先天性t(9;22)(q34;q11.2)是人类中描述的极少数反复出现的非罗伯逊先天性易位之一。我们的病例强调了完整的临床与实验室关联的必要性，以避免在罕见的先天性细胞遗传学异常情况下误诊髓系恶性肿瘤。
