Department of Hematology, Beijing Friendship Hospital, Capital Medical University, 95 Yong An Road, Xicheng District, Beijing, 100050, China.
Orphanet J Rare Dis. 2018 Jan 22;13(1):17. doi: 10.1186/s13023-017-0753-7.
This study investigated the clinical characteristics of primary hemophagocytic lymphohistiocytosis (HLH) in adults, including immunological markers, pedigree findings, and conditions of allogeneic hematopoietic stem cell transplantation (Allo-HSCT).
The study included clinical data of 18 adult patients with primary HLH treated in our center from June 2010 to January 2017.
Of these 18 cases, pathogenic variants were found in the following genes: PRF1 (n = 11), UNC13D (n = 5), SH2D1A (n = 2), RAB27a (n = 1), and LYST (n = 2). One patient had pathogenic variants in both PRF1 and UNC13D genes, one patient had pathogenic variants in both LYST and UNC13D genes and another patient had pathogenic variants in both PRF1 and SH2D1A genes. Additionally, 3 of the 18 cases involved homozygous pathogenic variants, while 2 cases involved hemizygous pathogenic variants. The remaining 13 cases involved compound heterozygous pathogenic variants. The natural killer (NK) cell activity test was conducted in all 18 cases where 14(77.8%)patients showed reduction in NK cell activity. Furthermore, this article presents 3 representative results of the pedigree findings from 12 patients who underwent family surveys. The 8 patients who underwent Allo-HSCT had a median survival of 27.2 months, as compared with the median survival of 7 months for the10 patients who did not undergo Allo-HSCT, a significant difference between the two groups of patients (p = 0.006).
PRF1 was one of the most commonly mutated gene in adult patients with primary HLH. Family surveys and immunological markers were important for the HLH diagnosis and the selection of an appropriate donor. Allo-HSCT was an effective therapy for adult primary HLH.
本研究调查了成人原发性噬血细胞性淋巴组织细胞增生症（HLH）的临床特征，包括免疫标志物、家系发现和异基因造血干细胞移植（Allo-HSCT）的情况。
本研究纳入了 2010 年 6 月至 2017 年 1 月在我院接受治疗的 18 例成人原发性 HLH 患者的临床资料。
这 18 例患者中，以下基因发现了致病性变异：PRF1（n=11）、UNC13D（n=5）、SH2D1A（n=2）、RAB27a（n=1）和 LYST（n=2）。1 例患者同时存在 PRF1 和 UNC13D 基因的致病性变异，1 例患者同时存在 LYST 和 UNC13D 基因的致病性变异，另 1 例患者同时存在 PRF1 和 SH2D1A 基因的致病性变异。此外，18 例中有 3 例为纯合致病性变异，2 例为半合子致病性变异，其余 13 例为复合杂合致病性变异。所有 18 例均进行了自然杀伤（NK）细胞活性检测，其中 14 例（77.8%）NK 细胞活性降低。此外，本文还介绍了 12 例进行家系调查患者的 3 个代表性家系发现结果。接受 Allo-HSCT 的 8 例患者的中位生存期为 27.2 个月，而未接受 Allo-HSCT 的 10 例患者的中位生存期为 7 个月，两组患者的中位生存期存在显著差异（p=0.006）。
PRF1 是成人原发性 HLH 中最常见的突变基因之一。家系调查和免疫标志物对 HLH 的诊断和合适供者的选择很重要。Allo-HSCT 是成人原发性 HLH 的有效治疗方法。
