自身免疫性骨髓纤维化认识现状及研究进展
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摘要
原发性骨髓纤维化是血液科骨髓增殖性肿瘤的一种亚型,90%以上合并Jak-2V617F、CALR、MPL基因突变,此外,多种疾病均可继发骨髓纤维化。近年来,自身免疫疾病继发骨髓纤维化逐渐受到关注,但总体来说目前医学界对该病的认识仍不足,尚缺乏统一的诊断标准,其发病机制的相关研究少,治疗方式多为个案报道,尚缺乏大规模临床研究,临床医师极易忽略该病而导致误诊误治。该文重点阐述原发性骨髓纤维化的认识现状及发病机制。
Primary myelofibrosis is a subtype of bone marrow proliferative neoplasms(MPNs), 90% of which contain Jak2 V617 F, CALR or MPL mutations. In addition, a variety of diseases can also lead to myelofibrosis. In recent years, myelofibrosis secondary to autoimmune diseases has gradually captivated attention. Nevertheless, the pathogenesis of myelofibrosis has been poorly understood and the standard diagnostic criteria are still lacking. Large-scale clinical trials are urgently required to evaluate the clinical efficacy of different therapeutic interventions. It is highly likely to be misdiagnosed or miss diagnosis. The current understanding and pathogenesis of primary myelofibrosis were reviewed in this article. MyelofibrosisAutoimmune diseaseCurrent understandingPathogenesis
Primary myelofibrosis is a subtype of bone marrow proliferative neoplasms(MPNs), 90% of which contain Jak2 V617 F, CALR or MPL mutations. In addition, a variety of diseases can also lead to myelofibrosis. In recent years, myelofibrosis secondary to autoimmune diseases has gradually captivated attention. Nevertheless, the pathogenesis of myelofibrosis has been poorly understood and the standard diagnostic criteria are still lacking. Large-scale clinical trials are urgently required to evaluate the clinical efficacy of different therapeutic interventions. It is highly likely to be misdiagnosed or miss diagnosis. The current understanding and pathogenesis of primary myelofibrosis were reviewed in this article. MyelofibrosisAutoimmune diseaseCurrent understandingPathogenesis
引文
[1]陈叶青,周国华,黄闯,肖蕊.成人非神经型尼曼-匹克病合并骨髓纤维化一例.新医学,2013,44(3):214-217.
[2]Pullarkat V,Bass RD,Gong JZ,Feinstein DI,Brynes RK.Primary autoimmune myelofibrosis:definition of a distinct clinicopathologic syndrome.Am J Hematol,2003,72(1):8-12.
[3]Piatek CI,Vergara-Lluri ME,Pullarkat V,Siddiqi IN,O’Connell C,Brynes RK,Feinstein DI.Autoimmune myelofibrosis:clinical features,course,and outcome.Acta Haematol,2017,138(3):129-137.
[4]Kar R,Dutta S,Tyagi S.Primary autoimmune myelofibrosis:a report of three cases and review of the literature.Turk JHaematol,2009,26(3):146-150.
[5]Vergara-Lluri ME,Piatek CI,Pullarkat V,Siddiqi IN,O’Connell C,Feinstein DI,Brynes RK.Autoimmunemyelofibrosis:an update on morphologic features in 29 cases and review of the literature.Hum Pathol,2014,45(11):2183-2191.
[6]Koduri PR,Parvez M,Kaza S,Vanajakshi S.Autoimmune myelofibrosis in systemic lupus erythematosus report of two cases and review of the literature.Indian J Hematol Blood Transfus,2016,32(3):368-373.
[7]Chalayer E,Costedoat-Chalumeau N,Beyne-Rauzy O,Ninet J,Durupt S,Tebib J,Asli B,Lambotte O,Ffrench M,Vasselon C,Cathébras P.Bone marrow involvement in systemic lupus erythematosus.QJM,2017,110(11):701-711.
[8]Ong A,Quach H,Leech M.Reversal of transfusion dependence by tumor necrosis factor inhibitor treatment in a patient with concurrent rheumatoid arthritis and primary myelofibrosis.J Clin Rheumatol,2011,17(4):211-213.
[9]Takahashi T.Autoimmune myelofibrosis accompanied by Sj?gren's syndrome in a 47,XXX/46,XX mosaic woman.Intern Med,2014,53(7):783-787.
[10]张敬宇,杨琳,姚丽,潘崚,董作仁.系统性红斑狼疮继发骨髓纤维化2例报告.临床血液学杂志,2005,18(1):45-47.
[11]闫金玉,赵晓民,侯伟.系统性红斑狼疮伴骨髓纤维化2例.中国实用内科杂志,2003,33(3):159.
[12]Giannoutsos I,Heaton D.Autoimmune marrow fibrosis with cytopenias responsive to methotrexate.Leuk Lymphoma,2006,47(8):1674-1676.
[13]Ohkawara H,Furukawa M,Ikeda K,Shichishima-Nakamura A,Fukatsu M,Sano T,Ueda K,Kimura S,Kanai R,Oka Y,Murakami F,Suzuki O,Hashimoto Y,Ogawa K,Ikezoe T.Steroid-resistant autoimmune myelofibrosis in a patient with autoimmune hepatitis and Evans syndrome complicated with increased expression of TGF-βin the bone marrow:a case report.Int J Hematol,2017,106(5):718-724.
[2]Pullarkat V,Bass RD,Gong JZ,Feinstein DI,Brynes RK.Primary autoimmune myelofibrosis:definition of a distinct clinicopathologic syndrome.Am J Hematol,2003,72(1):8-12.
[3]Piatek CI,Vergara-Lluri ME,Pullarkat V,Siddiqi IN,O’Connell C,Brynes RK,Feinstein DI.Autoimmune myelofibrosis:clinical features,course,and outcome.Acta Haematol,2017,138(3):129-137.
[4]Kar R,Dutta S,Tyagi S.Primary autoimmune myelofibrosis:a report of three cases and review of the literature.Turk JHaematol,2009,26(3):146-150.
[5]Vergara-Lluri ME,Piatek CI,Pullarkat V,Siddiqi IN,O’Connell C,Feinstein DI,Brynes RK.Autoimmunemyelofibrosis:an update on morphologic features in 29 cases and review of the literature.Hum Pathol,2014,45(11):2183-2191.
[6]Koduri PR,Parvez M,Kaza S,Vanajakshi S.Autoimmune myelofibrosis in systemic lupus erythematosus report of two cases and review of the literature.Indian J Hematol Blood Transfus,2016,32(3):368-373.
[7]Chalayer E,Costedoat-Chalumeau N,Beyne-Rauzy O,Ninet J,Durupt S,Tebib J,Asli B,Lambotte O,Ffrench M,Vasselon C,Cathébras P.Bone marrow involvement in systemic lupus erythematosus.QJM,2017,110(11):701-711.
[8]Ong A,Quach H,Leech M.Reversal of transfusion dependence by tumor necrosis factor inhibitor treatment in a patient with concurrent rheumatoid arthritis and primary myelofibrosis.J Clin Rheumatol,2011,17(4):211-213.
[9]Takahashi T.Autoimmune myelofibrosis accompanied by Sj?gren's syndrome in a 47,XXX/46,XX mosaic woman.Intern Med,2014,53(7):783-787.
[10]张敬宇,杨琳,姚丽,潘崚,董作仁.系统性红斑狼疮继发骨髓纤维化2例报告.临床血液学杂志,2005,18(1):45-47.
[11]闫金玉,赵晓民,侯伟.系统性红斑狼疮伴骨髓纤维化2例.中国实用内科杂志,2003,33(3):159.
[12]Giannoutsos I,Heaton D.Autoimmune marrow fibrosis with cytopenias responsive to methotrexate.Leuk Lymphoma,2006,47(8):1674-1676.
[13]Ohkawara H,Furukawa M,Ikeda K,Shichishima-Nakamura A,Fukatsu M,Sano T,Ueda K,Kimura S,Kanai R,Oka Y,Murakami F,Suzuki O,Hashimoto Y,Ogawa K,Ikezoe T.Steroid-resistant autoimmune myelofibrosis in a patient with autoimmune hepatitis and Evans syndrome complicated with increased expression of TGF-βin the bone marrow:a case report.Int J Hematol,2017,106(5):718-724.