Institute of Pathology and Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland.
Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Leukemia. 2018 Nov;32(11):2412-2426. doi: 10.1038/s41375-018-0082-4. Epub 2018 Feb 28.
Nodal marginal zone lymphoma (NMZL) is a rare small B-cell lymphoma lacking disease-defining phenotype and precise diagnostic markers. To better understand the mutational landscape of NMZL, particularly in comparison to other nodal small B-cell lymphomas, we performed whole-exome sequencing, targeted high-throughput sequencing, and array-comparative genomic hybridization on a retrospective series. Our study identified for the first time recurrent, diagnostically useful, and potentially therapeutically relevant BRAF mutations in NMZL. Sets of somatic mutations that could help to discriminate NMZL from other closely related small B-cell lymphomas were uncovered and tested on unclassifiable small B-cell lymphoma cases, in which clinical, morphological, and phenotypical features were equivocal. Application of targeted gene panel sequencing gave at many occasions valuable clues for more specific classification.
结内边缘区淋巴瘤（NMZL）是一种罕见的小 B 细胞淋巴瘤，缺乏疾病定义性表型和精确的诊断标志物。为了更好地了解 NMZL 的突变景观，特别是与其他结内小 B 细胞淋巴瘤相比，我们对一个回顾性系列进行了全外显子组测序、靶向高通量测序和阵列比较基因组杂交。我们的研究首次在 NMZL 中发现了复发性、具有诊断意义且具有潜在治疗意义的 BRAF 突变。发现了有助于区分 NMZL 与其他密切相关的小 B 细胞淋巴瘤的成套体细胞突变，并在分类不明确的小 B 细胞淋巴瘤病例中进行了测试，这些病例的临床、形态和表型特征存在疑问。靶向基因 panel 测序的应用在许多情况下为更具体的分类提供了有价值的线索。
