伴有t(4;16)(q11;p12)非朗格汉细胞组织细胞增多症1例报道并文献复习
|
摘要
<正>Erdheim-Chester病(Erdheim-Chester disease,ECD)是一种罕见的、累及多系统的非朗格汉细胞组织细胞增多症[1]。此病最初在1930年由Jakob Erd-heim和William Chester两位科学家发现报道,并因此命名。其主要特征是CD68+和CD1a-的组织细胞在多个靶器官迁移和浸润,造成组织结构的破坏和纤维化,因此导致器官功能受损,并且经常伴有骨痛[2]。ECD的病灶可累及全身,除了骨骼系统外,还包括中枢神经系统、心脏、大血管、肺、肾脏、肾上腺、腹膜后
引文
[1] Mazor RD,Manevich-Mazor M,Kesler A,et al. Clinicalconsiderations and key issues in the management of pa-tients with Erdheim-Chester disease:a seven case series[J]. BMC Med,2014,12:221
[2] Allen CE,Mcclain KL. Erdheim-Chester:beyond the lesion[J]. Blood,2011,117(10):2745-2746
[3] Lim J,Kim KH,Suh KJ,et al. A unique case of Erdheim-Chester disease with axial skeleton,lymph node,and bonemarrow involvement[J]. Cancer Res Treat,2016,48(1):415-421
[4] Bulycheva EN,Baykov VV,ZaraǐskiǐMI,et al. Rare formof erdheim-chester disease presenting with isolated centralskeletal lesions treated with a combination of alfa-interfer-on and zoledronic acid[J]. Case Rep Hematol,2015,2015:876752
[5] Mazor RD,Manevich-Mazor M,Shoenfeld Y. Erdheim-Chester disease:a comprehensive review of the literature[J]. Orphanet J Rare Dis,2013,8:137
[6] Haroche J,Arnaud L,Amoura Z. Erdheim-Chester disease[J]. Curr Opin Rheumatol,2012,24(1):53-59
[7] Guo S,Yan Q,Rohr J,et al. Erdheim-Chester disease in-volving the breast--a rare but important differential diagno-sis[J]. Hum Pathol,2015,46(1):159-164
[8] Tsai JW,Tsou JH,Hung LY,et al. Combined ErdheimChester disease and langerhans cell histiocytosis of skin are both monoclonal:a rare case with human androgen-receptor gene analysis[J]. J Am Acad Dermatol,2010,63(2):284-291
[9] Campochiaro C,Tomelleri A,Cavalli G,et al. ErdheimChester disease[J]. Eur J Intern Med,2015,26(4):223-229
[10]Graziani G,PodestàMA,Cucchiari D,et al. Erdheim-Chester disease:from palliative care to targeted treatment[J].Clin Kidney J,2014,7(4):339-343
[11]SevěcíkováS,KubiczkováL,SedlaǐíkováL,et al. Impact of anakinra treatment on cytokine and lymphocytes/monocytes profile of an Erdheim-Chester patient[J].Klin Onkol,2014,27(4):276-282
[12]Haroche J,Cohen-Aubart F,Emile JF,et al. Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated ErdheimChester disease[J]. J Clin Oncol,2015,33(5):411-418
[13]Emile JF,Diamond EL,Hélias-Rodzewicz Z,et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease[J]. Blood,2014,124(19):3016-3019
[14]Munoz J,Janku F,Cohen PR,et al. Erdheim-Chester disease:characteristics and management[J]. Mayo Clin Proc,2014,89(7):985-996
[15]Arnaud L,Hervier B,Néel A,et al. CNS involvement and treatment with interferon-αare Independent prognostic factors in Erdheim-Chester disease:a multicenter survival analysis of 53 patients[J]. Blood,2011,117(10):2778-2782
[16]Monti L,Haroche J,Sciarra A,et al. Interferon-alpha in cardiac Erdheim-Chester disease[J]. J Am Coll Cardiol,2011,58(25):2695
[17]Haroche J,Cohen-Aubart F,Emile JF,et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation[J]. Blood,2013,121(9):1495-1500
[18]Blombery P,Wong SQ,Lade S,et al. Erdheim-Chester disease harboring the BRAF V600E mutation[J]. J Clin Oncol,2012,30(32):e331-e332
[19]Adam Z,Szturz P,Pour L,et al. Cladribine is highly effective in the treatment of Langerhans cell histiocytosis and rare histiocytic disorders of the juvenile xanthogranuloma group[J]. Vnitr Lek,2012,58(6):455-465
[20]Adam Z,SprlákováA,Rehák Z,et al. Partial regression of CNS lesions of Erdheim-Chester disease after treatment with 2-chlorodeoxadenosine and their full remission following treatment with lenalidomide[J]. Klin Onkol,2011,24(5):367-381
[21]Adam Z,KoukalováR,SprlákováA,et al. Successful treatment of Erdheim-Chester disease by 2-chlorodeoxyadenosine-based chemotherapy. Two case studies and a literature review[J]. Vnitr Lek,2011,57(6):576-589
[22]Adam Z,ěRehák Z,KoukalováR,et al. PET-CT documented complete remission of Erdheim-Chester disease,lasting more than 4 years from treatment initiation with cladribine[J]. Vnitr Lek,2014,60(5/6):499-511
[2] Allen CE,Mcclain KL. Erdheim-Chester:beyond the lesion[J]. Blood,2011,117(10):2745-2746
[3] Lim J,Kim KH,Suh KJ,et al. A unique case of Erdheim-Chester disease with axial skeleton,lymph node,and bonemarrow involvement[J]. Cancer Res Treat,2016,48(1):415-421
[4] Bulycheva EN,Baykov VV,ZaraǐskiǐMI,et al. Rare formof erdheim-chester disease presenting with isolated centralskeletal lesions treated with a combination of alfa-interfer-on and zoledronic acid[J]. Case Rep Hematol,2015,2015:876752
[5] Mazor RD,Manevich-Mazor M,Shoenfeld Y. Erdheim-Chester disease:a comprehensive review of the literature[J]. Orphanet J Rare Dis,2013,8:137
[6] Haroche J,Arnaud L,Amoura Z. Erdheim-Chester disease[J]. Curr Opin Rheumatol,2012,24(1):53-59
[7] Guo S,Yan Q,Rohr J,et al. Erdheim-Chester disease in-volving the breast--a rare but important differential diagno-sis[J]. Hum Pathol,2015,46(1):159-164
[8] Tsai JW,Tsou JH,Hung LY,et al. Combined ErdheimChester disease and langerhans cell histiocytosis of skin are both monoclonal:a rare case with human androgen-receptor gene analysis[J]. J Am Acad Dermatol,2010,63(2):284-291
[9] Campochiaro C,Tomelleri A,Cavalli G,et al. ErdheimChester disease[J]. Eur J Intern Med,2015,26(4):223-229
[10]Graziani G,PodestàMA,Cucchiari D,et al. Erdheim-Chester disease:from palliative care to targeted treatment[J].Clin Kidney J,2014,7(4):339-343
[11]SevěcíkováS,KubiczkováL,SedlaǐíkováL,et al. Impact of anakinra treatment on cytokine and lymphocytes/monocytes profile of an Erdheim-Chester patient[J].Klin Onkol,2014,27(4):276-282
[12]Haroche J,Cohen-Aubart F,Emile JF,et al. Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated ErdheimChester disease[J]. J Clin Oncol,2015,33(5):411-418
[13]Emile JF,Diamond EL,Hélias-Rodzewicz Z,et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease[J]. Blood,2014,124(19):3016-3019
[14]Munoz J,Janku F,Cohen PR,et al. Erdheim-Chester disease:characteristics and management[J]. Mayo Clin Proc,2014,89(7):985-996
[15]Arnaud L,Hervier B,Néel A,et al. CNS involvement and treatment with interferon-αare Independent prognostic factors in Erdheim-Chester disease:a multicenter survival analysis of 53 patients[J]. Blood,2011,117(10):2778-2782
[16]Monti L,Haroche J,Sciarra A,et al. Interferon-alpha in cardiac Erdheim-Chester disease[J]. J Am Coll Cardiol,2011,58(25):2695
[17]Haroche J,Cohen-Aubart F,Emile JF,et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation[J]. Blood,2013,121(9):1495-1500
[18]Blombery P,Wong SQ,Lade S,et al. Erdheim-Chester disease harboring the BRAF V600E mutation[J]. J Clin Oncol,2012,30(32):e331-e332
[19]Adam Z,Szturz P,Pour L,et al. Cladribine is highly effective in the treatment of Langerhans cell histiocytosis and rare histiocytic disorders of the juvenile xanthogranuloma group[J]. Vnitr Lek,2012,58(6):455-465
[20]Adam Z,SprlákováA,Rehák Z,et al. Partial regression of CNS lesions of Erdheim-Chester disease after treatment with 2-chlorodeoxadenosine and their full remission following treatment with lenalidomide[J]. Klin Onkol,2011,24(5):367-381
[21]Adam Z,KoukalováR,SprlákováA,et al. Successful treatment of Erdheim-Chester disease by 2-chlorodeoxyadenosine-based chemotherapy. Two case studies and a literature review[J]. Vnitr Lek,2011,57(6):576-589
[22]Adam Z,ěRehák Z,KoukalováR,et al. PET-CT documented complete remission of Erdheim-Chester disease,lasting more than 4 years from treatment initiation with cladribine[J]. Vnitr Lek,2014,60(5/6):499-511