骨髓增生异常综合征患者异基因造血干细胞移植后继发慢性肥大细胞白血病现象分析

doi:10.3969/j.issn.1673-8640.2023.10.012

摘要/Abstract

摘要：

目的分析异基因造血干细胞移植后继发慢性肥大细胞白血病骨髓增生异常综合征（MDS）患者肥大细胞形态与预后的关系，以提高临床诊断能力。方法收集异基因造血干细胞移植后继发慢性肥大细胞白血病的MDS患者相关临床表现和诊疗经过等临床资料，分析疾病进展过程中相关实验室检验结果。结果患者移植前无肥大细胞，全相合移植后各项实验室检验结果符合肥大细胞白血病诊断标准；嵌合率检验结果提示患者移植早期处在完全嵌合状态；嵌合率随骨髓肥大细胞比例的升高而下降，处于混合嵌合状态。结论肥大细胞白血病患者肥大细胞的形态相对成熟可能提示预后较好。克隆性造血组织疾病合并系统性肥大细胞增多容易被忽视，导致疾病进展。血液系统肿瘤患者反复出现咳嗽等过敏症状时，应警惕肥大细胞增殖。

关键词: 骨髓增生异常综合征, 造血干细胞移植, 肥大细胞白血病, 细胞形态学, C-KIT

Abstract:

Objective To analyze the morphology and prognosis correlation of chronic mast cell leukemia after allogeneic hematopoietic stem cell transplantation in patients with myelodysplastic syndrome. Methods The clinical manifestations and treatment process of this case were analyzed retrospectively，and the laboratory determination results were analyzed. Results The patient had no mast cells before transplantation，and all the laboratory determination results after fully compatible transplantation met the diagnostic criteria for mast cell leukemia. The determination results of chimerism rate indicated that the patient was in a complete chimerism state at the early stage of transplantation. With the increase of the proportion of mast cells in the bone marrow，the chimerism rate was decreased，and the patient was in a mixed chimerism state. Conclusions Relatively mature mast cells may suggest a better prognosis. Systemic mast cell hyperplasia occurs on the basis of clonal hematopoietic tissue diseases，which can easily be ignored and lead to disease progression. Therefore，mast cell proliferation should be vigilant when patients with hematological tumors repeatedly develop allergic symptoms such as cough.

Key words: Myelodysplastic syndrome, Hematopoietic stem cell transplantation, Mast cell leukemia, Morphology, C-KIT

中图分类号:

R446.1

丁静, 刘伟玲, 夏新新, 蔺丽慧. 骨髓增生异常综合征患者异基因造血干细胞移植后继发慢性肥大细胞白血病现象分析[J]. 检验医学, 2023, 38(10): 971-976.

DING Jing, LIU Weiling, XIA Xinxin, LIN Lihui. Analysis of chronic mast cell leukemia secondary to hematopoietic stem cell transplantation in myelodysplastic syndrome[J]. Laboratory Medicine, 2023, 38(10): 971-976.

图/表 4

参考文献 18

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项目	初诊	移植前	供者	移植后	形态	处理	预后
本病例	MDS-EB-1	MDS-EB-1	全相合同胞供者	+1.5年诊断为肥大细胞白血病	肥大细胞约占96.5%。细胞中等偏大，多数规则，8%为梭形；核中等，圆形，居中或稍偏位，染色质偏成熟；胞质偏多，布满紫黑色粗大颗粒。21%胞体偏大，核畸形呈哑铃样或双核，染色质偏细，可有少数细胞颗粒缺乏	甲磺酸伊马替尼联合小剂量醋酸泼尼松片	移植后7年内早期完全嵌合状态，后期处于混合嵌合状态，存在肥大细胞、不存在髓系原始细胞
病例1^[8]	真性红细胞增多症进展为急性髓细胞白血病	真性红细胞增多症存在，急性髓细胞白血病缓解	全相合无关供者	+6年嵌合率降低、JAK2V617F变异等位基因频率上升，诊断为肥大细胞白血病伴骨髓增殖性肿瘤	肥大细胞占有核细胞的36%。细胞稍大，具有单个圆形或椭圆形细胞核。颗粒良好，核/质比低。形态介于非典型Ⅰ型、未成熟和成熟肥大细胞之间。纺锤形的肥大细胞<5%。异染原始细胞占有核细胞的1%	供体淋巴细胞输注	移植后6年内持续缓解，无肥大细胞、JAK2V617F阴性、嵌合率100%；移植后4个月因新发颅内出血死亡
病例2^[9]	急性髓细胞白血病伴t（8；21）（q22；q22）	系统性肥大细胞增多症-急性髓细胞白血病	半相合无关供者	+29 d骨髓涂片中肥大细胞占有核细胞的 62.4%；+49 d肥大细胞69.2%。诊断为肥大细胞白血病	+29 d骨髓中异染性母细胞约62.4%，高核/质比、染色质细、核仁不明显、胞浆颗粒减少。+49 d非典型肥大细胞（Ⅱ型）占骨髓有核细胞的69.2%，核双叶或多叶，染色质较致密，无核仁，胞质中有丰富的异染颗粒

项目	初诊	移植前	供者	移植后	形态	处理	预后
本病例	MDS-EB-1	MDS-EB-1	全相合同胞供者	+1.5年诊断为肥大细胞白血病	肥大细胞约占96.5%。细胞中等偏大，多数规则，8%为梭形；核中等，圆形，居中或稍偏位，染色质偏成熟；胞质偏多，布满紫黑色粗大颗粒。21%胞体偏大，核畸形呈哑铃样或双核，染色质偏细，可有少数细胞颗粒缺乏	甲磺酸伊马替尼联合小剂量醋酸泼尼松片	移植后7年内早期完全嵌合状态，后期处于混合嵌合状态，存在肥大细胞、不存在髓系原始细胞
病例1^[8]	真性红细胞增多症进展为急性髓细胞白血病	真性红细胞增多症存在，急性髓细胞白血病缓解	全相合无关供者	+6年嵌合率降低、JAK2V617F变异等位基因频率上升，诊断为肥大细胞白血病伴骨髓增殖性肿瘤	肥大细胞占有核细胞的36%。细胞稍大，具有单个圆形或椭圆形细胞核。颗粒良好，核/质比低。形态介于非典型Ⅰ型、未成熟和成熟肥大细胞之间。纺锤形的肥大细胞<5%。异染原始细胞占有核细胞的1%	供体淋巴细胞输注	移植后6年内持续缓解，无肥大细胞、JAK2V617F阴性、嵌合率100%；移植后4个月因新发颅内出血死亡
病例2^[9]	急性髓细胞白血病伴t（8；21）（q22；q22）	系统性肥大细胞增多症-急性髓细胞白血病	半相合无关供者	+29 d骨髓涂片中肥大细胞占有核细胞的 62.4%；+49 d肥大细胞69.2%。诊断为肥大细胞白血病	+29 d骨髓中异染性母细胞约62.4%，高核/质比、染色质细、核仁不明显、胞浆颗粒减少。+49 d非典型肥大细胞（Ⅱ型）占骨髓有核细胞的69.2%，核双叶或多叶，染色质较致密，无核仁，胞质中有丰富的异染颗粒