A Novel t(10;22) Translocation Harboring an IGL Gene Deletion in a CLL Patient Transforming to B-PLL with 1q Gain.

Lei Sun, Vinit V Patil, Nathan Wilgus, Jianhui Yao, Jacqueline R Batanian
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Abstract

Objectives: We report on a rare case of B-cell prolymphocytic leukemia (B-PLL) in a patient with a history of chronic lymphocytic leukemia (CLL) that showed a novel translocation t(10;22)(q21;q11.22) and an interstitial deletion of 11q14.1-q23.3 in 2017. The chromosome microarray analysis (CMA) confirmed the 11q22 deletion and revealed a small interstitial deletion of IGL gene. In 2018, the patient presented with worsening lymphocytosis, anemia and thrombocytopenia. The peripheral blood smear revealed an increased prolymphocyte population, which comprised 60.4% of lymphoid cells, establishing a diagnosis of B-cell prolymphocytic leukemia. The CMA and G-banded chromosome analysis showed one additional aberration in the form of 1q gain translocated onto the other homologue 22. These findings suggested clonal evolution of CLL to B-PLL. The most common translocation involving immunoglobulin lambda chain (IGL) in CLL is the t(18;22), followed by t(8;22) and (11;22). An evolution to B-PLL occurs in most cases without gaining additional aberrations. Here, we report for the first time a novel translocation involving IGL with chromosome 10q21 and one 1q gain occurring in a patient with CLL that transformed to B-PLL. Based on the disease progression and this newly developed cytogenetic aberration, our case supports the progressive nature of CLL in the presence of IGL deletion and suggests the pathological role of 1q gain in CLL transformation.

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一个新的t(10;22)易位包含IGL基因缺失在CLL患者转化为B-PLL与1q增益。
目的:我们报告了一例罕见的b细胞原淋巴细胞白血病(B-PLL)患者,该患者有慢性淋巴细胞白血病(CLL)病史,在2017年出现了一个新的易位t(10;22)(q21;q11.22)和11q14.1-q23.3的间质缺失。染色体微阵列分析(CMA)证实11q22缺失,并显示IGL基因间质缺失。2018年,患者出现淋巴细胞增多、贫血和血小板减少症加重。外周血涂片显示原淋巴细胞群增加,占淋巴样细胞的60.4%,诊断为b细胞原淋巴细胞白血病。CMA和g带染色体分析显示,另一个畸变以1q增益的形式易位到另一个同源物22上。这些发现提示CLL向B-PLL的克隆进化。CLL中涉及免疫球蛋白λ链(IGL)最常见的易位是t(18;22),其次是t(8;22)和(11;22)。进化到B-PLL发生在大多数情况下没有获得额外的畸变。在这里,我们首次报道了一个新的易位,涉及染色体10q21的IGL,发生在一个转化为B-PLL的CLL患者中。基于疾病进展和这种新发现的细胞遗传学畸变,本病例支持IGL缺失存在下CLL的进行性,并提示1q增益在CLL转化中的病理作用。
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