IGH-BCL2 和 MYC 同时重排的 B 细胞淋巴瘤是具有侵袭性的肿瘤,其临床和病理特征与 Burkitt 淋巴瘤和弥漫性大 B 细胞淋巴瘤不同。

B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements are aggressive neoplasms with clinical and pathologic features distinct from Burkitt lymphoma and diffuse large B-cell lymphoma.

机构信息

Department of Pathology, James Homer Wright Pathology Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA.

出版信息

Am J Surg Pathol. 2010 Mar;34(3):327-40. doi: 10.1097/PAS.0b013e3181cd3aeb.

Abstract

B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements, also known as "double-hit" lymphomas (DHL), are rare neoplasms characterized by highly aggressive clinical behavior, complex karyotypes, and a spectrum of pathologic features overlapping with Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL) and B-lymphoblastic lymphoma/leukemia (B-LBL). The clinical and pathologic spectrum of this rare entity, including comparison to other high-grade B-cell neoplasms, has not been well defined. We conducted a retrospective analysis of clinical and pathologic features of 20 cases of DHL seen at our institution during a 5-year period. In addition, we carried out case-control comparisons of DHL with BL and International Prognostic Index (IPI)-matched DLBCL. The 11 men and 9 women had a median age of 63.5 years (range 32 to 91). Six patients had a history of grade 1 to 2 follicular lymphoma; review of the prior biopsy specimens in 2 of 5 cases revealed blastoid morphology. Eighteen patients had Ann Arbor stage 3 or 4 disease and all had elevated serum lactate dehydrogenase (LDH) levels at presentation. Extranodal disease was present in 17/20 (85%), bone marrow involvement in 10/17 (59%) and central nervous system (CNS) disease in 5/11 (45%). Nineteen patients were treated with combination chemotherapy, of whom 18 received rituximab and 14 received CNS-directed therapy. Fourteen patients (70%) died within 8 months of diagnosis. Median overall survival in the DHL group (4.5 mo) was inferior to both BL (P=0.002) and IPI-matched DLBCL (P=0.04) control patients. Twelve DHL cases (60%) were classified as B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL, 7 cases (35%) as DLBCL, not otherwise specified, and 1 case as B-LBL. Distinguishing features from BL included expression of Bcl2 (P<0.0001), Mum1/IRF4 (P=0.006), Ki-67 <95% (P<0.0001), and absence of EBV-EBER (P=0.006). DHL commonly contained the t(8;22) rather than the t(8;14) seen in most BL controls (P=0.001), and exhibited a higher number of chromosomal aberrations (P=0.0009). DHL is a high-grade B-cell neoplasm with a poor prognosis, resistance to multiagent chemotherapy, and clinical and pathologic features distinct from other high-grade B-cell neoplasms. Familiarity with the morphologic and immunophenotypic spectrum of DHL is important in directing testing to detect concurrent IGH-BCL2 and MYC rearrangements when a karyotype is unavailable. The aggressive clinical behavior and combination of genetic abnormalities seen in these cases may warrant categorization as a separate entity in future classifications and call for novel therapeutic approaches.

摘要

B 细胞淋巴瘤伴同时IGH-BCL2 和 MYC 重排,也称为“双打击”淋巴瘤(DHL),是一种罕见的肿瘤,具有高度侵袭性的临床行为、复杂的核型和与 Burkitt 淋巴瘤(BL)、弥漫性大 B 细胞淋巴瘤(DLBCL)和 B 淋巴细胞白血病/淋巴瘤(B-LBL)重叠的一系列病理特征。这种罕见实体的临床和病理谱,包括与其他高级别 B 细胞肿瘤的比较,尚未得到很好的定义。我们对我院在 5 年内观察到的 20 例 DHL 的临床和病理特征进行了回顾性分析。此外,我们还对 DHL 与 BL 和国际预后指数(IPI)匹配的 DLBCL 进行了病例对照比较。11 名男性和 9 名女性的中位年龄为 63.5 岁(范围为 32 至 91 岁)。6 例患者有 1 至 2 级滤泡淋巴瘤病史;对 5 例中的 2 例先前活检标本的回顾显示出母细胞形态。18 例患者有 Ann Arbor 分期 3 或 4 期疾病,所有患者在就诊时均有血清乳酸脱氢酶(LDH)水平升高。17/20(85%)例存在结外疾病,10/17(59%)例骨髓受累,11/5(45%)例中枢神经系统(CNS)疾病。19 例患者接受联合化疗,其中 18 例接受利妥昔单抗治疗,14 例接受 CNS 定向治疗。14 例患者(70%)在诊断后 8 个月内死亡。DHL 组的中位总生存期(4.5 个月)明显劣于 BL(P=0.002)和 IPI 匹配的 DLBCL(P=0.04)对照组。12 例 DHL 病例(60%)被归类为 B 细胞淋巴瘤,无法分类,具有介于 DLBCL 和 BL 之间的特征,7 例(35%)为非特指的 DLBCL,1 例为 B-LBL。与 BL 相比,DHL 的鉴别特征包括 Bcl2 的表达(P<0.0001)、Mum1/IRF4(P=0.006)、Ki-67<95%(P<0.0001)和 EBV-EBER 缺失(P=0.006)。DHL 通常包含 t(8;22)而不是大多数 BL 对照中所见的 t(8;14)(P=0.001),并且表现出更高数量的染色体异常(P=0.0009)。DHL 是一种高级别 B 细胞肿瘤,预后不良,对多药化疗有耐药性,并且具有与其他高级别 B 细胞肿瘤不同的临床和病理特征。当核型不可用时,熟悉 DHL 的形态和免疫表型谱对于指导检测以检测同时存在的IGH-BCL2 和 MYC 重排非常重要。这些病例中观察到的侵袭性临床行为和遗传异常的组合可能需要在未来的分类中单独分类,并需要新的治疗方法。

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