原发性噬血细胞综合征治疗后转变为急性混合细胞白血病1例并文献复习

摘要

Objective To investigate the clinical characteristics and outcome of primary hemophagocytic syn-drome (HPS) accompanied by STX11 gene mutation. Methods The coding regions of exon of PRF1, STX11, STX-BP2, UNCl3D, SH2DIA and RAB27A genes of 1 patient suspected as having HPS were detected using polymerase chain reaction ( PCR) and Sanger direct sequencing methods, and the patient was diagnosed as having primary HPS. The cura-tive effect and prognosis were observed after therapy of HLH-2004 protocol. Results The heterozygous missense muta-tion c. 146 G>A was detected in STX11 coding region of exon by PCR and Sanger direct sequencing methods, which in-duced amino acid substitution p. R49Q (arginine changing to glutamine). The patient underwent a course of HLH-2004 protocol therapy, and treatments of cyclosporin A, androgen, cytokines, traditional Chinese medicine and blood transfu-sion were applied intermittently. The patient's condition was stable, and increased white blood cell ( WBC) and juvenile cells were examined using routine blood examination 2 years later, and the acute mixed-cell leukemia was diagnosed with the bone marrow picture and flow cytometry. Conclusion Primary HPS accompanied by STX11 gene mutation may have unique biological characteristics, and can be transformed into acute mixed-cell leukemia.%目的：探讨伴STX11基因突变的原发性噬血细胞综合征( HPS)的临床特点与疾病转归。方法应用聚合酶链反应( PCR)及 Sanger 直接测序方法,对1例临床拟诊的 HPS 患者进行 PRF1、STX11、STXBP2、UNCl3D、SH2DIA、RAB27A等HPS相关基因外显子编码区突变筛查,确诊为原发性HPS后,给予HLH-2004方案化疗并观察其疗效及预后。结果经PCR及Sanger直接测序检测到STX11基因编码区存在一个杂合错义突变：c.146 G﹥A,导致所编码的氨基酸发生p. R49Q(精氨酸变为谷氨酰胺)；给予1疗程HLH-2004方案化疗后,间断应用环孢素A、雄激素、细胞因子、中药及输血等治疗,病情尚稳定,2年后复查血常规示白细胞计数增高并出现幼稚细胞,经骨髓象及流式细胞术检测诊断为急性混合细胞白血病。结论伴STX11基因突变的原发性HPS可能具有独特的生物学特点,可转变为急性混合细胞白血病。