浆细胞淋巴瘤(PBL)的临床病理实体,尽管世界卫生组织(世卫组织)广泛承认,由于其重叠的特征和罕见的发生,代表了诊断挑战。通常,PBL出现在免疫缺陷中,老年男性患者,最值得注意的是那些谁是人类免疫缺陷病毒(HIV)阳性。更罕见,已经确定了从另一种血液病演变而来的转化PBL(tPBL)病例。在这里,我们描述了一例65岁男性从邻近医院转院的病例,他有明显的淋巴细胞增多和自发性肿瘤溶解综合征(sTLS),推测为慢性淋巴细胞白血病(CLL).利用完整的临床,形态学,免疫表型,和分子评估,我们用sTLS对tPBL进行了最终诊断,怀疑是从脾边缘区淋巴瘤(SMZL)(NNK-SMZL)的NF-κB/NOTCH/KLF2(NNK)遗传簇进化而来的,潜在的转变和展示,根据我们的知识,以前没有报道过。然而,未进行确定性克隆性测试。在这份报告中,我们还概述了我们在辨别tPBL和其他更常见的B细胞恶性肿瘤时面临的诊断和教育考虑,如CLL,套细胞淋巴瘤,或浆细胞性骨髓瘤。我们总结了最近报道的分子,预后,以及PBL的治疗和识别的治疗考虑,包括成功实施,在我们的病人身上,硼替佐米服用EPOCH(依托泊苷,泼尼松,长春新碱,环磷酰胺,和多柔比星)预防性鞘内注射甲氨蝶呤的方案,此后达到完全缓解(CR)并进入临床监测。最后,本报告简要强调了我们在血液学分型方面面临的挑战,需要WHO进行更多的回顾和讨论:具有潜在双重细胞遗传学的tPBL与具有浆细胞增殖表型的双重淋巴瘤.
The clinicopathology entity of plasmablastic lymphoma (PBL), despite broad recognition by the World Health Organization (WHO), represents a diagnostic challenge due to its overlapping features and scarce occurrence. Often, PBL arises in immunodeficient, elderly male patients, most notably those who are human immunodeficiency virus (HIV)-positive. More infrequent, cases of transformed PBL (tPBL) evolved from another hematologic disease have been identified. Herein, we describe a case of a 65-year-old male transferred from a neighboring hospital with pronounced lymphocytosis and spontaneous tumor lysis syndrome (sTLS) presumed to be chronic lymphocytic leukemia (CLL). Utilizing a complete clinical, morphologic, immunophenotypic, and molecular evaluation, we arrived at a final diagnosis of tPBL with sTLS, suspected to have evolved from the NF-κB/NOTCH/KLF2 (NNK) genetic cluster of splenic marginal zone lymphoma (SMZL) (NNK-SMZL), a potential transformation and presentation, to our knowledge, not previously reported. However, definitive clonality testing was not performed. In this report, we also outline the diagnostic and educational considerations we faced in discerning tPBL from other more common B-cell malignancies which can present similarly, such as CLL, mantle cell lymphoma, or plasmablastic myeloma. We summarize recently reported molecular, prognostic, and therapeutic considerations for the treatment and recognition of PBL, including the successful implementation, in our patient, of bortezomib to an EPOCH (etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin) regimen with prophylactic intrathecal methotrexate, who has since achieved complete remission (CR) and entered clinical surveillance. Lastly, this report briefly highlights the challenge we faced in this area of hematologic typification that necessitates additional review and discussion by the WHO: tPBL with potential double-hit cytogenetic versus double-hit lymphoma with a plasmablastic phenotype.