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首页> 外文期刊>Molecular cytogenetics >Atypical rearrangement involving 3′-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression
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Atypical rearrangement involving 3′-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression

机译：tLL（8; 14）（q24.1; q32）平衡且MYC阴性的CLL患者中非典型重排涉及3'-IGH @和一个完整MYC上游至少400 Kb的断裂点

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The t(8;14)(q24.1;q32), the cytogenetic hallmark of Burkitt’s lymphoma, is also found, but rarely, in cases of chronic lymphocytic leukemia (CLL). Such translocation typically results in a MYC-IGH@ fusion subsequently deregulating and overexpressing MYC on der 14q32. In CLL, atypical rearrangements resulting in its gain or loss, within or outside of IGH@ or MYC locus, have been reported, but their clinical significance remains uncertain. Herein, we report a 67?year-old male with complex cytogenetic findings of apparently balanced t(8;14) and unreported complex rearrangements of IGH@ and MYC loci. His clinical, morphological and immunophenotypic features were consistent with the diagnosis of CLL. Interphase FISH studies revealed deletions of 11q22.3 and 13q14.3, and an extra copy of IGH@, indicative of rearrangement. Karyotype analysis showed an apparently balanced t(8;14)(q24.1;q32). Sequential GPG-metaphase FISH studies revealed abnormal signal patterns: rearrangement of IGH break apart probe with the 5’-IGH@ on derivative 8q24.1 and the 3’-IGH@ retained on der 14q; absence of MYC break apart-specific signal on der 8q; and, the presence of unsplit 5’-MYC-3’ break apart probe signals on der 14q. The breakpoint on 8q24.1 was found to be at least 400 Kb upstream of 5’ of MYC. In addition, FISH studies revealed two abnormal clones; one with 13q14.3 deletion, and the other, with concurrent 11q deletion and atypical rearrangements. Chromosome microarray analysis (CMA) detected a 7.1?Mb deletion on 11q22.3-q23.3 including ATM, a finding consistent with FISH results. While no significant copy number gain or loss observed on chromosomes 8, 12 and 13, a 455 Kb microdeletion of uncertain clinical significance was detected on 14q32.33. Immunohistochemistry showed co-expression of CD19, CD5, and CD23, positive ZAP-70 expression and absence of MYC expression. Overall findings reveal an apparently balanced t(8;14) and atypical complex rearrangements involving 3’-IGH@ and a breakpoint at least 400 Kb upstream of MYC, resulting in the relocation of the intact 5’-MYC-3’ from der 8q, and apposition to 3’-IGH@ at der 14q. This case report provides unique and additional cytogenetic data that may be of clinical significance in such a rare finding in CLL. It also highlights the utility of conventional and sequential metaphase FISH in understanding complex chromosome anomalies and their association with other clinical findings in patients with CLL. To the best of our knowledge, this is the first CLL reported case with such an atypical rearrangement in a patient with a negative MYC expression.
机译：t（8; 14）（q24.1; q32）是伯基特淋巴瘤的细胞遗传学标志，但在慢性淋巴细胞性白血病（CLL）的情况下很少见。这种易位通常导致MYC-IGH @融合，随后在der 14q32上失调和过度表达MYC。在CLL中，已经报道了在IGH @或MYC基因座之内或之外导致其得失的非典型重排，但其临床意义仍不确定。在此，我们报告了一个67岁的男性，其复杂的细胞遗传学发现具有明显的平衡的t（8; 14）和IGH @和MYC基因座的未报告的复杂重排。他的临床，形态和免疫表型特征与CLL的诊断一致。鱼类间期研究显示11q22.3和13q14.3缺失，以及IGH @的额外拷贝，表明存在重排。核型分析显示t（8; 14）（q24.1; q32）明显平衡。连续的GPG中期FISH研究显示异常信号模式：IGH分离探针的重排，导数8q24.1上的5'-IGH @和14q上的3'-IGH @保留;在der 8q上没有MYC分离特异性信号;而且，未分离的5'-MYC-3'的存在会破坏der 14q上的探测信号。发现8q24.1处的断点位于MYC 5'上游至少400 Kb。此外，FISH研究还发现了两个异常克隆。一个带有13q14.3缺失，另一个带有同时11q缺失和非典型重排。染色体微阵列分析（CMA）在包括ATM在内的11q22.3-q23.3上检测到7.1？Mb缺失，这一发现与FISH结果一致。虽然在8号，12号和13号染色体上未观察到明显的拷贝数增加或减少，但在14q32.33上检测到455 Kb微缺失，其临床意义不确定。免疫组织化学显示CD19，CD5和CD23的共表达，ZAP-70阳性表达和MYC表达缺失。总体发现表明，t（8; 14）明显平衡，且涉及3'-IGH @的非典型复杂重排以及MYC上游至少400 Kb的断裂点，导致完整的5'-MYC-3'从der 8q移出。 ，并在der 14q并入3'-IGH @。该病例报告提供了独特而又额外的细胞遗传学数据，这些数据对于如此罕见的CLL发现可能具有临床意义。它还强调了常规和连续中期FISH在了解复杂染色体异常及其与CLL患者其他临床发现之间的关联。据我们所知，这是第一例CLL报告的MYC表达阴性患者中具有非典型重排的病例。

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