Ali Sakhdari, Peter J. B. Sabatini, Tulasi Geevar, Tong Zhang, Jan M. A. Delabie
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引用次数: 0
Abstract
In recent years, the recognition of distinct lymphoma entities has expanded with advancements in molecular characterization. Large B-cell Lymphoma with interferon regulatory factor-4 (IRF4) rearrangement (LBCL-IRF4-R) is one such entity. We present a case of classic low-grade follicular lymphoma with IRF4 rearrangement in a 50-year-old male, demonstrating an unusual immunophenotypic and genetic profile reminiscent of LBCL-IRF4-R. Molecular analysis revealed mutations in CREBBP, KMT2D, IRF4, and CARD11, with previously unreported variants identified in IRF4 and CREBBP. This case broadens the spectrum of B-cell lymphomas associated with IRF4 rearrangement by demonstrating a small B-cell lymphoma with this genetic feature.
近年来，随着分子表征技术的进步，对不同淋巴瘤实体的认识也在不断扩大。干扰素调节因子-4（IRF4）重排的大 B 细胞淋巴瘤（LBCL-IRF4-R）就是其中之一。我们报告了一例典型的低级别滤泡性淋巴瘤，患者为一名50岁男性，其免疫表型和遗传特征与LBCL-IRF4-R相似。分子分析显示，CREBBP、KMT2D、IRF4和CARD11发生了突变，其中IRF4和CREBBP中发现了以前未报道过的变异。该病例展示了一种具有这种遗传特征的小B细胞淋巴瘤，从而扩大了与IRF4重排相关的B细胞淋巴瘤的范围。
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