系统性肥大细胞增多症31例及文献复习
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摘要
目的:回顾性分析国内文献报道的系统性肥大细胞增生症(SM)的临床特征,探讨SM的诊断,不同分型的治疗及预后特点。方法:回顾性分析2000-01-2016-12国内文献报道的30例及我院收治的1例SM患者。结果:共检索到文献26篇,其中24篇文献报道了30例诊断明确、资料完整的SM。其不同分型临床表现具有异质性,主要依靠病理诊断。根据2016年WHO诊断及分型标准,10例诊断为惰性肥大细胞增生症(ISM),11例诊断为侵袭性肥大细胞增生症(ASM),3例SM相关的非肥大细胞系单克隆性血液病(SM-AHN),7例肥大细胞白血病(MCL)。SM的治疗目标在于消除肥大细胞释放介质引起的症状和控制肥大细胞增生。ISM患者给予抗组胺药物、糖皮质激素、γ-干扰素、甲磺酸伊马替尼等治疗,疗效佳,患者基本都可以获得缓解。而ASM的疗效较差,11例ASM患者中4例治疗无效,包括2例死亡。SM-AHN、MCL疾病进展较快,确诊时已有多器官、多系统累及,无有效的治疗方案,死亡率极高。结论:SM是一种罕见疾病,不同分型具有较强的异质性,其诊断主要依赖于病理学检查。目前尚无根治方法,治疗目标在于控制症状和改善生活质量。ISM预后相对较好,ASM、SM-AHN、MCL多数诊断时已累及到其他器官、系统,病情较重,预后较差,死亡率高。
Objective:To explore the diagnosis,treatment and prognosis of different type of systemic mastocytosis(SM).Method:A case of SM diagnosed in our hospital and 30 cases reported in domestic literatures from January 2000 to December 2016 were included in our study.Result:We reviewed 26 literatures and analyzed the data from 30 cases of different type of SM patients with clear pathological diagnosis reported in 24 literatures.According to the 2016 version WHO diagnosis and classification standard,10 cases were diagnosed as indolent systemic mastocytosis(ISM),11 cases were aggressive SM(ASM),3 cases were SM with an associated hematological neoplasm(SM-AHN)and 7 cases were mast cell leukemia(MCL).The treatment goal of SM was to eliminate the symptoms caused by the cytokine secreted by mast cells and control the mast cell hyperplasia.The therapeutic efficacy of ISM was good with antihistamine drugs,glucocorticoids,cyclosporine A,gamma interferons,and Imatinib.The efficacy of ASM was poor,4 of 11 patients with ASM failed treatment,including 2 cases died.There was no effective therapy for SM-AHN and MCL,and mortality was high with multi-organs involvement and rapid progression.Conclusion:SM is a heterogenous disease,and its diagnosis mainly depends on pathological examination.It can't be cured,and the goal of treatment is to control symptoms and improve quality of life.ISM has relatively good prognosis,and ASM,SM-AHN and MCL have a high mortality because they have multi-organ involvement at diagnosis.
Objective:To explore the diagnosis,treatment and prognosis of different type of systemic mastocytosis(SM).Method:A case of SM diagnosed in our hospital and 30 cases reported in domestic literatures from January 2000 to December 2016 were included in our study.Result:We reviewed 26 literatures and analyzed the data from 30 cases of different type of SM patients with clear pathological diagnosis reported in 24 literatures.According to the 2016 version WHO diagnosis and classification standard,10 cases were diagnosed as indolent systemic mastocytosis(ISM),11 cases were aggressive SM(ASM),3 cases were SM with an associated hematological neoplasm(SM-AHN)and 7 cases were mast cell leukemia(MCL).The treatment goal of SM was to eliminate the symptoms caused by the cytokine secreted by mast cells and control the mast cell hyperplasia.The therapeutic efficacy of ISM was good with antihistamine drugs,glucocorticoids,cyclosporine A,gamma interferons,and Imatinib.The efficacy of ASM was poor,4 of 11 patients with ASM failed treatment,including 2 cases died.There was no effective therapy for SM-AHN and MCL,and mortality was high with multi-organs involvement and rapid progression.Conclusion:SM is a heterogenous disease,and its diagnosis mainly depends on pathological examination.It can't be cured,and the goal of treatment is to control symptoms and improve quality of life.ISM has relatively good prognosis,and ASM,SM-AHN and MCL have a high mortality because they have multi-organ involvement at diagnosis.
引文
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[14]陶仲为.系统性肥大细胞增多症[J].中国医师进修杂志,2013,36(1):71-73.
[15]刘卫乎,王觅,杨群培,等.侵袭性系统性肥大细胞增生症一例[J].中华病理学杂志,2010,39(11):775-777.
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[17]李恕军,韩英,晨智敏,等.酷似炎症性肠病的系统性肥大细胞增生症1例[J].胃肠病学,2010,15(3):191-192.
[18]黄松,吴华文,李学明,等.KIT-D816V阳性系统性肥大细胞增生症行手助腹腔镜脾切除1例[J].中国普通外科杂志,2012,21(3):370-371.
[19]王玉荣,李峰敏,卢云飞,等.系统性肥大细胞增生症伴克隆性非肥大细胞血液病一例[J].中华血液学杂志,2009,30(12):857-857.
[20]张宏丽,肖志坚.系统性肥大细胞增生症合并克隆性造血系统非肥大细胞疾病一例并文献复习[J].白血病·淋巴瘤,2012,21(7):419-422.
[21]谢炳寿,王文权,胡理明,等.侵袭性系统性肥大细胞增生症1例[C]//第八届全国中西医结合血液病学术会议论文集,2007:356-358.
[22]杨辉,韩志宏.非白血病性肥大细胞白血病1例[J].检验医学,2016,31(2):153-154.
[23]李兆薇,孙平,李福德,等.非白血病性肥大细胞白血病1例[J].哈尔滨医科大学学报,2005,40(1):72-73.
[24]刘艳奎,太善姬,宋艳,等.先天性肥大细胞白血病一例[J].中华血液学杂志,2003,24(5):234-234.
[25]林聪猛,吴荣娟,叶宝国.肥大细胞白血病一例[J].白血病·淋巴瘤,2010,19(12):766-767.
[26]朱文波,周岩,刘英华.非白血病性肥大细胞白血病1例报告并文献复习[J].中国误诊学杂志,2009,9(30):7524-7524.
[27]兰会华,彭志刚,莫武宁,等.肥大细胞白血病1例[J].第三军医大学学报,2009,31(11):1028-1031.
[28]Bibi S,Zhang Y,Hugonin C,et al.A new humanized in vivo model of KIT D816V+advanced systemic mastocytosis monitored using a secreted luciferase[J].Oncotarget,2016,7:82985-83000.
[29]Arock M,Sotlar K,Akin C,et al.KIT mutation analysis in mast cell neoplasms:recommendations of the European Competence Network on Mastocytosis[J].Leukemia,2015,29:1223-1232.
[30]Bibi S,Langenfeld F,Jeanningros S,et al.Molecular defects in mastocytosis:KIT and beyond KIT[J].Immunol Allergy Clin North Am,2014,34:239-262.
[31]Chatterjee A,Ghosh J,Kapur R.Mastocytosis:a mutated KIT receptor induced myeloproliferative disorder[J].Oncotarget,2015,6:18250-18264.
[32]Hermans MA,Rietveld MJ,van Laar JA,et al.Systemic mastocytosis:A cohort study on clinical characteristics of 136patients in a large tertiary centre[J].Eur J Intern Med,2016,30:25-30.
[2]Arber DA,Orazi A,Hasserjian R,et al.The 2016revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J].Blood,2016,127:2391-2405.
[3]Pardanani A.Systemic mastocytosis in adults:2017update on diagnosis,risk stratification and management[J].Am J Hematol,2016,91:1146-1159.
[4]冯振博,张慧,邱晔.系统性肥大细胞增生症2例报告并文献复习[J].中国实用内科学杂志,2016,36(8):713-715.
[5]童秀珍,曲双,陈立,等.系统性肥大细胞增生症三例并文献复习[J].中华内科杂志,2012,51(9):716-718.
[6]王书杰,彭琳一,侍效春.系统性肥大细胞增生症三例及文献复习[J].中华全科医师杂志,2013,12(3):189-193.
[7]石军,李翠玲,徐涛.系统性肥大细胞增生症一例[J].中华儿科杂志,2005,43(4):317-318.
[8]李玉梅,李楠,徐巍.新生儿系统性肥大细胞增生症一例[J].中国小儿急救医学,2012,19(1):106-107.
[9]尹晓娟,安育林,张志梅,等.新生儿系统性肥大细胞增生症一例[J].中国新生儿科杂志,2010,25(2):114-114.
[10]沈军,王秀红,魏利龙,等.伴嗜碱性粒细胞增多的系统性肥大细胞增多症1例[J].临床检验杂志,2014,32(2):156-157.
[11]彭树松.系统性肥大细胞增生症的骨髓病理学特点与鉴别[J].中国医学工程,2012,20(3):23-25.
[12]李羿,蔡文宇,秦铁军,等.侵袭性系统性肥大细胞增生症一例并文献复习[J].白血病·淋巴瘤,2014,23(8):488-491.
[13]陈辉树,苏尔云.侵袭性系统性肥大细胞增多症一例[J].中华血液学杂志,2005,26(6):351-351.
[14]陶仲为.系统性肥大细胞增多症[J].中国医师进修杂志,2013,36(1):71-73.
[15]刘卫乎,王觅,杨群培,等.侵袭性系统性肥大细胞增生症一例[J].中华病理学杂志,2010,39(11):775-777.
[16]郭秀,孙光,黄鑫琳.系统性肥大细胞增生症一例[J].中华血液学杂志,2014,35(11):994-994.
[17]李恕军,韩英,晨智敏,等.酷似炎症性肠病的系统性肥大细胞增生症1例[J].胃肠病学,2010,15(3):191-192.
[18]黄松,吴华文,李学明,等.KIT-D816V阳性系统性肥大细胞增生症行手助腹腔镜脾切除1例[J].中国普通外科杂志,2012,21(3):370-371.
[19]王玉荣,李峰敏,卢云飞,等.系统性肥大细胞增生症伴克隆性非肥大细胞血液病一例[J].中华血液学杂志,2009,30(12):857-857.
[20]张宏丽,肖志坚.系统性肥大细胞增生症合并克隆性造血系统非肥大细胞疾病一例并文献复习[J].白血病·淋巴瘤,2012,21(7):419-422.
[21]谢炳寿,王文权,胡理明,等.侵袭性系统性肥大细胞增生症1例[C]//第八届全国中西医结合血液病学术会议论文集,2007:356-358.
[22]杨辉,韩志宏.非白血病性肥大细胞白血病1例[J].检验医学,2016,31(2):153-154.
[23]李兆薇,孙平,李福德,等.非白血病性肥大细胞白血病1例[J].哈尔滨医科大学学报,2005,40(1):72-73.
[24]刘艳奎,太善姬,宋艳,等.先天性肥大细胞白血病一例[J].中华血液学杂志,2003,24(5):234-234.
[25]林聪猛,吴荣娟,叶宝国.肥大细胞白血病一例[J].白血病·淋巴瘤,2010,19(12):766-767.
[26]朱文波,周岩,刘英华.非白血病性肥大细胞白血病1例报告并文献复习[J].中国误诊学杂志,2009,9(30):7524-7524.
[27]兰会华,彭志刚,莫武宁,等.肥大细胞白血病1例[J].第三军医大学学报,2009,31(11):1028-1031.
[28]Bibi S,Zhang Y,Hugonin C,et al.A new humanized in vivo model of KIT D816V+advanced systemic mastocytosis monitored using a secreted luciferase[J].Oncotarget,2016,7:82985-83000.
[29]Arock M,Sotlar K,Akin C,et al.KIT mutation analysis in mast cell neoplasms:recommendations of the European Competence Network on Mastocytosis[J].Leukemia,2015,29:1223-1232.
[30]Bibi S,Langenfeld F,Jeanningros S,et al.Molecular defects in mastocytosis:KIT and beyond KIT[J].Immunol Allergy Clin North Am,2014,34:239-262.
[31]Chatterjee A,Ghosh J,Kapur R.Mastocytosis:a mutated KIT receptor induced myeloproliferative disorder[J].Oncotarget,2015,6:18250-18264.
[32]Hermans MA,Rietveld MJ,van Laar JA,et al.Systemic mastocytosis:A cohort study on clinical characteristics of 136patients in a large tertiary centre[J].Eur J Intern Med,2016,30:25-30.