Journal of Clinical Pediatrics ›› 2023, Vol. 41 ›› Issue (3): 197-203.doi: 10.12372/jcp.2023.22e0771
• Hematology and Oncology Disease • Previous Articles Next Articles
MAI Yumiao, WANG Yingjie, SUN Pan, CHEN Zhiwei, REN Bing, WANG Yingchao, LIU Yufeng, LIU Jian()
Received:
2022-05-30
Published:
2023-03-15
Online:
2023-03-10
MAI Yumiao, WANG Yingjie, SUN Pan, CHEN Zhiwei, REN Bing, WANG Yingchao, LIU Yufeng, LIU Jian. Hematopoietic stem cell transplantation for systemic mastocytosis associated with acute myeloid leukemia in children: a clinical follow-up of 2 cases[J].Journal of Clinical Pediatrics, 2023, 41(3): 197-203.
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项 目 | 例1 | 例2 |
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入院查体 | 右颈部及1枚0.5 cm淋巴结,无触痛及黏连,活动度可。肝肋下2 cm,脾肋下1 cm,质韧,无触痛,边缘锐利 | 全身可见散在出血点,颜色鲜红,压之不褪色。肝脏、脾脏肋下未触及 |
血常规 | WBC 34.82×109/L,RBC 3.4×1012/L,Hb 90.8g/L,PLT 72×109/L。单核细胞10.59×109/L,淋巴细胞18.49×109/L,中性粒细胞正常。外周血细胞形态学分析:原始粒细胞78% | WBC 46.05×109/L,RBC 2.71×1012/L,Hb 89g/L,PLT 21×109/L,中性粒细胞33.39×109/L,单核细胞2.35×109/L,淋巴细胞10.32×109/L。外周血细胞形态学分析:原始粒细胞71% |
骨髓涂片细胞形态学 | AML-M2伴肥大细胞增多。原始粒细胞增多(62.4 %),部分原始粒细胞浆内可见Auer小体。肥大细胞比例增多(3.6 %),可见散在或成堆肥大细胞(≥15个)在骨髓中浸润 | AML-M2伴肥大细胞增多。原始粒细胞明显增多 (52 %),肥大细胞增多(11.2 %),成群(≥15个)或散在分布 |
肥大细胞形态 | 大部分为梭形或非典型细胞,核多为双叶,核染色质浓缩 | 胞体较大,大部分为梭形或非典型,核为双叶或多叶,胞浆少颗粒 |
免疫分型 | 原幼细胞占有核细胞54.1 %;高表达CD34、CD117、CD38、HLA-DR、CD58、cMPO,部分表达CD33、CD123、CD56、CD19、CD71,提示异常早期髓系细胞 肥大细胞比例2.7 %;高表达CD117、CD9、CD13、CD33、CD38,未表达CD25、CD2、HLA-DR、CD123、CD15 | 原幼细胞占有核细胞44.3 %;高表达CD34、HLA-DR、CD38、CD58、CD13、cMPO,部分表达 CD117、CD33,提示异常早期髓系细胞 肥大细胞比例10.1%;高表达CD117、CD9、CD33、CD13,未表达CD25、CD2、HLA-DR、CD123、CD15 |
染色体核型 | 46,XY,t(8;21)(q22;q22)[ | 46,XX,t(8;21)(q22;q22)[ |
融合基因 | AML1-ETO | AML1-ETO |
基因突变 | KIT V560D(外显子11),突变频率38.2% | KIT T418_D419delinsY(外显子8),突变频率 32.8 %;KIT N822K(外显子17),突变频率3 %;NRAS G13D(外显子2),突变频率4.5 % |
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时 间 | 事 件 |
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入院前3天 | 发热,WBC 21.54×109/L,镜检提示原始幼稚细胞易见 |
入院时 | 明确SM-AML诊断后,予DAH诱导治疗,化疗后骨髓涂片细胞形态学示AML-M2部分缓解,原始粒细胞2.8%,易见散在肥大细胞(5.6%)。MRD示异常早期髓系细胞占2.26%,肥大细胞占5.14% |
入院后1.5个月 | 行IAH化疗方案,化疗后骨髓涂片细胞形态学示AML-M2完全缓解,原始粒细胞占2.4%,肥大细胞明显增高(44 %)。MRD示未见异常髓系表型,肥大细胞比例增高(13.3 %) |
入院后9个月 | 入移植仓行无关HLA不全相合(9/10)脐血造血干细胞移植 |
移植当天 | 回输总有核细胞数为7.69×108/kg,回输CD34+细胞数为1.31×105/kg |
移植后+27天 | 中性粒细胞植入 |
移植后+47天 | 血小板植入 |
移植后+79天 | 出现移植物抗宿主病(GVHD)Ⅰ级,皮肤受累,予口服甲基泼尼松龙及局部外用他克莫司后好转 |
移植后+3个月 | 开始定期输注地西他滨,复查骨髓涂片细胞形态学为AML-M2完全缓解, 未见肥大细胞;MRD未见异常髓系表型,肥大细胞0.05% |
移植后+6个月 | 复查骨髓涂片细胞形态学为AML-M2完全缓解, 未见肥大细胞;MRD未见异常髓系表型,肥大细胞0.04% |
移植后+8个月 | 开始口服达沙替尼 |
移植后+12个月 | 复查骨髓涂片细胞形态学为AML-M2完全缓解, 未见肥大细胞;MRD未见异常 |
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时 间 | 事 件 |
---|---|
入院前1周 | 发热,面色苍白伴血常规异常 |
入院时 | 明确SM-AML诊断后,给予DAH诱导治疗,化疗后复查骨髓涂片细胞形态学示AML-M2部分缓解,原始粒细胞占6.4%,肥大细胞增多(22%)。MRD示异常早期髓系细胞占0.57%,肥大细胞占3.24% |
入院后1个月 | 行IAH化疗方案,化疗后复查骨髓涂片细胞形态学示AML-M2完全缓解,原始粒细胞占3.2%,易见散在肥大细胞(42.2 %)。MRD示未见异常髓系表型,肥大细胞增多(7.96%) |
入院后8个月 | 入移植仓行亲缘HLA不全相合(9/10,姐供妹)造血干细胞移植 |
移植当天 | 回输单个核细胞数为9.08×108/kg,回输CD34+细胞数为6.81×106/kg |
移植后+11天 | 中性粒细胞植入 |
移植后+13天 | 血小板植入 |
移植后+3个月 | 复查骨髓涂片细胞形态学示AML-M2缓解(原始粒细胞2 %),肥大细胞增多(37.6%);MRD:未见异常髓系表型,肥大细胞比例增高占7.68%;开始输注地西他滨及口服达沙替尼以预防白血病复发 |
移植后+6个月 | 复查骨髓涂片细胞形态学为AML-M2完全缓解, 肥大细胞增高(2%);MRD未见异常髓系表型,肥大细胞0.21%;完全嵌合状态 |
移植后+12个月 | 复查骨髓涂片细胞形态学为AML-M2完全缓解,肥大细胞增高(2.8%);MRD未见异常髓系表型,肥大细胞0.32 % |
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