Dowiak A, Tirado Carlos A
The International Circle of Genetic Studies, Los Angeles, CA.
University of California, Los Angeles, CA.
J Assoc Genet Technol. 2018;44(2):49-53.
We report a 63-year-old male whose bone marrow morphology and flow cytometry showed evidence of B-Chronic Lymphocytic Leukemia (B-CLL). Chromosome analysis of the bone marrow showed an abnormal karyotype, described as 46,XY,t(18;22)(q21;q11.2)[19]/46,XY[1]. FISH analysis on interphase nuclei revealed an abnormal clone with loss of D13S319 (13q14.3) in 68.0% of the cells examined. Deletion of chromosome 13 is the most common cytogenetic abnormality identified in CLL (approximately 50% of CLL). Recent studies suggest that deletion of chromosome 13q14 in 65% or more nuclei by FISH is associated with an intermediate to unfavorable prognosis in CLL. The t(18;22)(q21;q11.2) present in this case, as well as the t(2;18)(p12;q21), are variants of the t(14;18)(q32;q21); all three are abnormalities in CLL. These abnormalities are found in less than 4% of CLL cases. They are usually present within the context of a complex karyotype in a subset of CLL, but can also be observed in cases of benign lymphocytosis. Herein, we report a t(18;22)(q21;q11.2) in a CLL patient as a sole cytogenetic abnormality by conventional cytogenetics, and with loss of 13q14.3, as determined by FISH. To the best of our knowledge, this is one of the few cases of its kind.
我们报告了一名63岁男性,其骨髓形态学和流式细胞术显示有B细胞慢性淋巴细胞白血病(B-CLL)的证据。骨髓染色体分析显示核型异常,描述为46,XY,t(18;22)(q21;q11.2)[19]/46,XY[1]。间期核的荧光原位杂交(FISH)分析显示,在68.0%的检测细胞中存在D13S319(13q14.3)缺失的异常克隆。13号染色体缺失是慢性淋巴细胞白血病中最常见的细胞遗传学异常(约占慢性淋巴细胞白血病的50%)。最近的研究表明,FISH检测显示65%或更多细胞核中13q14缺失与慢性淋巴细胞白血病的中等至不良预后相关。该病例中存在的t(18;22)(q21;q11.2)以及t(2;18)(p12;q21)是t(14;18)(q32;q21)的变体;这三种都是慢性淋巴细胞白血病中的异常情况。这些异常在不到4%的慢性淋巴细胞白血病病例中发现。它们通常出现在慢性淋巴细胞白血病亚组的复杂核型背景中,但也可在良性淋巴细胞增多症病例中观察到。在此,我们报告一名慢性淋巴细胞白血病患者的t(18;22)(q21;q11.2)作为常规细胞遗传学检测的唯一细胞遗传学异常,且通过FISH检测确定存在13q14.3缺失。据我们所知,这是此类罕见病例之一。