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伴有8q24畸变的淋巴瘤谱系:87例连续病例的临床、病理及细胞遗传学研究

The spectrum of lymphoma with 8q24 aberrations: a clinical, pathological and cytogenetic study of 87 consecutive cases.

作者信息

Au Wing Y, Horsman Douglas E, Gascoyne Randy D, Viswanatha David S, Klasa Richard J, Connors Joseph M

机构信息

Department of Medical Oncology, British Columbia Cancer Agency, Vancouver, Canada.

出版信息

Leuk Lymphoma. 2004 Mar;45(3):519-28. doi: 10.1080/10428190310001593120.

Abstract

To define the histologic, cytogenetic (CG) and clinical spectrum of non-Hodgkin lymphoma (NHL) carrying an 8q24 (c-myc) translocation, 87 patients with an 8q24 aberration were identified from 785 consecutive successfully analyzed cases. Aberrations involving 8q24 were found at diagnosis (n = 66) or at relapse/progression (n = 21). Histologically, Burkitt-like lymphoma (BLL) (32%) and Burkitt's leukemia/lymphoma (BL) (19%) with 8q24 changes at diagnosis, was the most common. Nevertheless, 46% of cytogenetically characterized BL and BLL cases do not show 8q24 aberrations. On the other hand, 8q24 aberration was also often found in follicular lymphoma (FL), mantle cell lymphoma (MCL) and low-grade NHL cases at progression. Cytogenetically, a de novo group is represented by classical t(8;14)(q24;q32) (n = 41), with isolated 8q24 changes, fewer secondary CG changes and represent mostly BL/BLL cases. In contrast, cases carrying variant 8q24 aberrations (n = 29) contain more CG events, carried primary 14q32 translocations, and included most FL, MCL and diffuse large B cell (DLBC) lymphoma cases. Clinically, the overall median follow-up was 8.6 months (range 0-192), with a median survival of 4.2 months from CG analysis. The presence of a 8q24 aberration give a statistically significant inferior prognosis than its absence in all histological groups, independent of clinical prognostic factors, when analyzed both at diagnosis and at relapse. We conclude that the finding of an 8q24 aberration is of marked negative prognostic significance, either at diagnosis or at disease progression, in a variety of NHL.

摘要

为明确携带8q24(c-myc)易位的非霍奇金淋巴瘤(NHL)的组织学、细胞遗传学(CG)及临床特征谱,从785例连续成功分析的病例中识别出87例存在8q24畸变的患者。涉及8q24的畸变在诊断时(n = 66)或复发/进展时(n = 21)被发现。组织学上,诊断时伴有8q24改变的伯基特样淋巴瘤(BLL)(32%)和伯基特白血病/淋巴瘤(BL)(19%)最为常见。然而,46%经细胞遗传学特征分析的BL和BLL病例未显示8q24畸变。另一方面,8q24畸变在进展期的滤泡性淋巴瘤(FL)、套细胞淋巴瘤(MCL)和低级别NHL病例中也常被发现。细胞遗传学上,一个新发组以经典的t(8;14)(q24;q32)(n = 41)为代表,伴有孤立的8q24改变,继发性CG改变较少,且大多为BL/BLL病例。相比之下,携带变异8q24畸变的病例(n = 29)有更多的CG事件,携带原发性14q32易位,且包括大多数FL、MCL和弥漫性大B细胞(DLBC)淋巴瘤病例。临床上,总体中位随访时间为8.6个月(范围0 - 192个月),从CG分析起的中位生存期为4.2个月。在所有组织学组中,无论在诊断时还是复发时进行分析,存在8q24畸变与不存在相比,在统计学上预后显著较差,且独立于临床预后因素。我们得出结论,在各种NHL中,无论是在诊断时还是疾病进展时,发现8q24畸变都具有显著的不良预后意义。

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