A t(18;22)(q21;q11)参与IGL/BCL2在慢性淋巴细胞白血病中的罕见事件。

A Dowiak, Carlos A Tirado
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摘要

目的:我们报告一位63岁男性患者,其骨髓形态和流式细胞术显示b -慢性淋巴细胞白血病(B-CLL)的证据。骨髓染色体分析显示异常核型,描述为46,XY,t(18;22)(q21;q11.2)[19]/46,XY[1]。对间期细胞核的FISH分析显示68.0%的细胞中存在D13S319 (13q14.3)缺失的异常克隆。13号染色体缺失是CLL中最常见的细胞遗传学异常(约占CLL的50%)。最近的研究表明,FISH检测中65%或更多核的13q14染色体缺失与CLL的中至不良预后相关。在这种情况下,t(18;22)(q21;q11.2)以及t(2;18)(p12;q21)都是t(14;18)(q32;q21)的变体;这三种都是CLL的异常。这些异常在不到4%的CLL病例中发现。它们通常存在于CLL子集的复杂核型中,但也可以在良性淋巴细胞增多症中观察到。在此,我们报告了一个t(18;22)(q21;q11.2)在CLL患者中作为常规细胞遗传学的唯一细胞遗传学异常,并通过FISH确定13q14.3缺失。据我们所知,这是为数不多的此类案件之一。
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A t(18;22)(q21;q11) involving IGL/BCL2, A Rare Event in Chronic Lymphocytic Leukemia.

Objectives: 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.

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