乳房植入物囊中意外发现的纤维蛋白相关大 B 细胞淋巴瘤:一份罕见病例的分子报告。

IF 4.4 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2024-08-01 DOI:10.32074/1591-951X-944
Cristian Scatena, Antonio Giuseppe Naccarato, Margherita Vannucchi, Maria Chiara Siciliano, Angelo Giovanni Bonadio, Livio Colizzi, Matteo Ghilli, Arianna Di Napoli, Giuseppe Nicolò Fanelli, Stefano Lazzi
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引用次数: 0

摘要

乳房植入物相关(BIA)淋巴瘤是一种罕见的恶性肿瘤,通常起源于T细胞;不过,最近也有少数弥漫大B细胞淋巴瘤(LBCL)病例被描述出来。这些病例具有共同的主要特征:这些病例的主要特征是:Epstein-Barr 病毒阳性,仅通过手术治疗预后良好,这暗示着与纤维蛋白相关的 LBCL(FA-LBCL)可能存在联系。本研究是意大利首例BIA-FA-LBCL病例,也是迄今为止从分子角度进行评估的少数病例之一。我们在 DNMT3A 中发现了两个致病突变,在 JAK2 中发现了一个意义不明的变体(VUS)。这些发现表明,表观遗传机制失调和JAK-STAT通路的构成性激活可能是BIA-FA-LBCL淋巴瘤发生的基础。最后,我们根据最新的WHO-HAEM5分类总结了以前报道的所有病例,进一步揭示了这一新实体的性质。本报告强调了BIA-FA-LBCL的罕见性,并强调了全面的胶囊采样和向国家数据库报告对于准确鉴定和管理这些淋巴瘤的重要性。该研究支持将BIA-FA-LBCL归入FA-LBCL谱系,强调了进一步研究以阐明其分子基础和改善临床结果的必要性。
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Fibrin associated large B-cell lymphoma accidentally identified in a breast implant capsule: a molecular report of a rare entity.

Breast implant-associated (BIA) lymphoma is a rare malignancy, typically originating from T-cells; however, few cases of diffuse large B-cell lymphoma (LBCL) have been recently described. These cases share major features: Epstein-Barr virus positivity and a favorable prognosis with surgical intervention alone, hinting at a potential link to fibrin-associated LBCL (FA-LBCL). This study presents the first case of BIA-FA-LBCL in Italy and one of the few assessed from a molecular standpoint so far. We identified two pathogenic mutations in DNMT3A and a variant of uncertain significance (VUS) in JAK2. These findings suggest that dysfunctional epigenetic mechanisms and constitutive activation of the JAK-STAT pathway may underpin BIA-FA-LBCL lymphomagenesis. Finally, we summarized all the previously reported cases in alignment with the updated WHO-HAEM5 classification, shedding further light on the nature of this new entity. This report highlights the rarity of BIA-FA-LBCL and underscores the importance of comprehensive capsule sampling and reporting to national databases for accurate characterization and management of these lymphomas. The study supports the classification of BIA-FA-LBCL within the spectrum of FA-LBCL, emphasizing the need for further research to elucidate its molecular underpinnings and improve clinical outcomes.

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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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