South Africa (SA) has a high prevalence of human immunodeficiency virus (HIV) infection. People living with HIV are at markedly increased risk of developing Burkitt lymphoma (BL), which is characterized by the MYC translocation. There is a paucity of survival data of HIV-associated Burkitt lymphoma/leukaemia (HIV-BL) cases from SA, and the relationship between karyotype and outcomes has not been widely reported. Here we report the clinico-pathological characteristics of a cohort of cytogenetically confirmed HIV-BL cases. A retrospective, descriptive review was conducted of clinico-pathological features of HIV-BL patients newly diagnosed and treated between 2005 and 2014 at our tertiary academic institution in Cape Town. Only HIV-BL patients with cytogenetic evidence of a MYC translocation were included for analysis. A multivariable Cox proportional hazards model assessed the impact of variables on overall survival (OS). Forty-nine patients met inclusion criteria. Their median age was 37 years (IQR 30-43 years) and 57% (n = 28) were females. Their median CD4 count was 240 cells/μl (IQR 103-423 cells/μl). The majority, 61% (n = 30), had leukaemic presentation, and 20% (n = 10) had a complex karyotype on conventional karyotyping. Seventy-seven percent (n = 36) received various protocols of combination intensive chemotherapy, excluding rituximab. Their OS was 64% (95% CI 45-77%) at 6 months, and 34% (95% CI 17-51%) at 5 years. Leukaemic presentation and a complex karyotype gave a 2.7-fold (95% CI 1.0-6.7) and 2.6-fold (95% CI 1.1-6.6) increased risk of mortality respectively, which were statistical significant (p < 0.05). We report 49 newly diagnosed, cytogenetically confirmed HIV-BL patients at our institution over a 10-year period. There was a high proportion of complex karyotypes and leukaemic presentation, which both independently adversely affected survival. This may be due to differences in the pathobiology of HIV-BL that requires further study and could lead to therapeutic advances in this patient group.

中文翻译：

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在南非，HIV 相关伯基特淋巴瘤与频繁的白血病表现、复杂的细胞遗传学核型和不良的临床结果有关。


南非 (SA) 的人类免疫缺陷病毒 (HIV) 感染率很高。 HIV 感染者患伯基特淋巴瘤 (BL) 的风险显着增加，其特点是 MYC 易位。南澳州 HIV 相关伯基特淋巴瘤/白血病 (HIV-BL) 病例的生存数据很少，而且核型与结果之间的关系尚未得到广泛报道。在这里，我们报告了一组经细胞遗传学证实的 HIV-BL 病例的临床病理特征。对 2005 年至 2014 年我们开普敦三级学术机构新诊断和治疗的 HIV-BL 患者的临床病理特征进行了回顾性、描述性审查。仅包含具有 MYC 易位细胞遗传学证据的 HIV-BL 患者进行分析。多变量 Cox 比例风险模型评估了变量对总生存期 (OS) 的影响。四十九名患者符合纳入标准。他们的中位年龄为 37 岁（IQR 30-43 岁），其中 57% (n = 28) 为女性。他们的中位 CD4 计数为 240 个细胞/μl（IQR 103-423 个细胞/μl）。大多数人（61%（n = 30））患有白血病，20%（n = 10）在传统核型分析中具有复杂的核型。 77% (n = 36) 接受了各种联合强化化疗方案，但不包括利妥昔单抗。他们的 6 个月 OS 率为 64% (95% CI 45-77%)，5 年 OS 为 34% (95% CI 17-51%)。白血病表现和复杂核型分别使死亡风险增加 2.7 倍 (95% CI 1.0-6.7) 和 2.6 倍 (95% CI 1.1-6.6)，具有统计学意义 (p < 0.05)。我们报告了 10 年来我们机构新诊断并经细胞遗传学确诊的 49 名 HIV-BL 患者。 复杂核型和白血病表现的比例很高，这两者都独立地对生存产生不利影响。这可能是由于 HIV-BL 的病理学差异所致，需要进一步研究，并可能导致该患者群体的治疗进展。