原发性乳腺边缘区淋巴瘤的基因图谱发现了一种与眼附件淋巴瘤相似的突变驱动型疾病。

IF 4.5 1区 医学 Q1 PATHOLOGY American Journal of Surgical Pathology Pub Date : 2024-10-01 Epub Date: 2024-06-12 DOI:10.1097/PAS.0000000000002257
Vanesa-Sindi Ivanova, Thomas Menter, Joel Zaino, Kirsten D Mertz, Baptiste Hamelin, Stefan Dirnhofer, Veronika Kloboves-Prevodnik, Alexandar Tzankov, Gorana Gašljević
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引用次数: 0

摘要

结节外边缘区淋巴瘤(eMZL)可发生在身体的任何器官和部位。最近的研究表明,不同器官的淋巴瘤在突变特征方面存在差异。在这项研究中,我们调查了一组原发性乳腺边缘区淋巴瘤(PBMZL),以更好地了解它们的形态和分子特征。我们通过免疫组化(IHC)检测了19个标记物,进行了荧光原位杂交(FISH),并使用包含172个基因的淋巴瘤面板进行了高通量测序(HTS)。此外,还进行了特异性检测包柔氏菌属的 PCR 和元基因组学全基因组测序,以分析感染病原体。在大多数病例中都观察到滤泡定植,而淋巴上皮病变虽然在许多病例中都能看到,但并不显著。所有 15 个病例的 CD5、CD11c 和 CD21 均为阴性,而 BCL2 和泛 B 细胞标记物均为阳性。没有病例出现BCL2、BCL10、IRF4、MALT1或MYC易位;只有1例出现BCL6重排。HTS显示,TNFAIP3(n=4)、KMT2D(n=2)和SPEN(n=2)是最常见的突变基因。我们的队列中没有发现包柔氏菌属,也没有发现其他病原体。其中一名患者曾有慢性迁徙性红斑的临床病史,并累及同一乳房。PBMZL是一种突变驱动型疾病,而非融合驱动型疾病。它表现出影响NF-κB通路的编码基因、染色质修饰编码基因和NOTCH通路相关基因的突变。其突变特征与眼附件型和结节型MZL相似。
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The Genetic Landscape of Primary Breast Marginal Zone Lymphoma Identifies a Mutational-driven Disease With Similarities to Ocular Adnexal Lymphoma.

Extranodal marginal zone lymphomas (eMZL) can occur in any organ and site of the body. Recent research has shown that they differ from organ to organ in terms of their mutational profile. In this study, we investigated a cohort of primary breast marginal zone lymphomas (PBMZL) to get a better insight into their morphologic and molecular profile. A cohort of 15 cases (14 female and 1 male) was characterized by immunohistochemistry (IHC) for 19 markers, fluorescence in situ hybridization (FISH), and high throughput sequencing (HTS) using a lymphoma panel comprising 172 genes. In addition, PCR for the specific detection of Borrelia spp. and metagenomics whole genome sequencing were performed for infectious agent profiling. Follicular colonization was observed in most cases, while lymphoepithelial lesions, though seen in many cases, were not striking. All 15 cases were negative for CD5, CD11c, and CD21 and positive for BCL2 and pan B-cell markers. There were no cases with BCL2 , BCL10 , IRF4 , MALT1 , or MYC translocation; only 1 had a BCL6 rearrangement. HTS highlighted TNFAIP3 (n=4), KMT2D (n=2), and SPEN (n=2) as the most frequently mutated genes. There were no Borrelia spp. , and no other pathogens detected in our cohort. One patient had a clinical history of erythema chronicum migrans affecting the same breast. PBMZL is a mutation-driven disease rather than fusion-driven. It exhibits mutations in genes encoding components affecting the NF-κB pathway, chromatin modifier-encoding genes, and NOTCH pathway-related genes. Its mutational profile shares similarities with ocular adnexal and nodal MZL.

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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
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