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中华临床医师杂志(电子版) ›› 2024, Vol. 18 ›› Issue (01) : 101 -104. doi: 10.3877/cma.j.issn.1674-0785.2024.01.017

综述

骨髓增生异常/骨髓增殖性肿瘤伴环形铁粒幼细胞和血小板增多的临床特点及治疗进展
金炜1,()   
  1. 1. 215300 江苏 昆山,昆山市第一人民医院血液科
  • 收稿日期:2023-11-27 出版日期:2024-01-15
  • 通信作者: 金炜

Clinical characteristics and treatment of myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis

Wei Jin1,()   

  1. 1. Department of Hematology, Kunshan First People's Hospital, Kunshan 215300, China
  • Received:2023-11-27 Published:2024-01-15
  • Corresponding author: Wei Jin
引用本文:

金炜. 骨髓增生异常/骨髓增殖性肿瘤伴环形铁粒幼细胞和血小板增多的临床特点及治疗进展[J]. 中华临床医师杂志(电子版), 2024, 18(01): 101-104.

Wei Jin. Clinical characteristics and treatment of myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(01): 101-104.

骨髓增生异常/骨髓增殖性肿瘤伴环状铁粒幼细胞和血小板增多(MDS/MPN-RS-T)是WHO在2016年最新版MDS/MPN的分类标准中新增加的分型。是一类同时具有伴环形铁粒幼细胞增多的骨髓增生异常综合征(MDS-RS)的病态造血及巨核细胞异常克隆性增殖导致血小板增多的临床特点的疾病。因其发病率极低,相关文献报道较少,临床工作中十分容易漏诊及误诊,即使确诊后也无系统的治疗方案,本文通过参考国内外针对这类疾病诊断与治疗的相关报道进行分析总结,拟提高临床工作中对这类疾病的认识。

In 2016, the World Health Organization updated the classification criteria for myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN), which added the classification of myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T). MDS/MPN-RS-T has the dual characteristics of myelodysplasia and myeloproliferation at the same time. Because its incidence rate is extremely low and there are few relevant literature reports, it is very prone to missed diagnosis and misdiagnosis in clinical work, and there is no systematic treatment plan even after diagnosis. This article analyzes and summarizes the relevant reports on the diagnosis and treatment of MDS/MPN-RS-T at home and abroad, with an aim to improve the understanding of this rare disease among clinicians.

1
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J]. Blood, 2016, 127(20): 2391-2405.
2
Patnaik MM, Lasho TL. Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlapsyndromes[J]. Hematology Am Soc Hematol Educ Program, 2020, 2020(1): 450-459.
3
韦美萍, 张敬宇, 高占玺, 等. MDS/MPN伴环形铁粒幼细胞和血小板增多2例并文献复习[J]. 临床检验杂志, 2018, 36(6): 476-478.
4
Gurevich I, Luthra R, Konoplev SN, et al. Refractory anemia with ring sideroblasts associated with marked thrombocytosis: a mixed group exhibiting a spectrum of morphologic findings[J]. Am J Clin Pathol, 2011, 135(3): 398-403.
5
朱雨, 何广胜. 世界卫生组织2016年骨髓增殖性肿瘤及骨髓增生异常综合征/骨髓增殖性肿瘤分类更新解读[J]. 中国实用内科杂志, 2016, 36(8): 658-661, 667.
6
Jeromin S, Haferlach T, Weissmann S, et al. Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations[J]. Haematologica, 2015, 100(4): e125-e127.
7
何广胜. 骨髓增生异常/骨髓增殖性肿瘤伴环状铁粒幼细胞和血小板增多的诊断与治疗[J]. 临床血液学杂志, 34, 11(2021): 762-764.
8
Jeromin S, Haferlach T, Weissmann S, et al. Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations[J]. Haematologica, 2015, 100(4): e125-e127.
9
Patnaik MM, Tefferi A. Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis: "2019 Update on Diagnosis, Risk-stratification, and Management"[J]. Am J Hematol, 2019, 94(4): 475-488.
10
曹蓝, 洪鸣. 骨髓增生异常综合征/骨髓增殖性肿瘤的治疗进展[J]. 临床血液学杂志, 2021, 34(9): 680-683.
11
肖志坚. 骨髓增生异常综合征/骨髓增殖性肿瘤的诊断和治疗[J]. 中国实用内科杂志, 2018, 38(2): 93-97.
12
Antelo G, Mangaonkar AA, Coltro G, et al. Response to erythropoiesis-stimulating agents in patients with WHO-defined myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[J]. Br J Haematol, 2020, 189(3): e104-e108.
13
Fenaux P, Platzbecker U, Mufti GJ, et al. Luspatercept in patients with lower-risk myelodysplastic syndromes[J]. N Engl J Med, 2020, 382(2): 140-151.
14
Chan O, Komrokji RS. Luspatercept in the treatment of lower-risk myelodysplastic syndromes[J]. Future Oncol, 2021, 17(12): 1473-1481.
15
周炯涛, 何广胜. SF3B1突变型骨髓增生异常综合征亚型发病机制及诊断[J]. 中国实用内科杂志, 2021, 41(1): 27-29.
16
Assi R, Kantarjian HM, Garcia-Manero G, et al. A phase II trial of ruxolitinib in combination with azacytidine in myelodysplastic syndrome/myeloproliferative neoplasms[J]. Am J Hematol, 2018, 93(2): 277-285.
17
Alvarez-Larrán A, Cervantes F, Pereira A, et al. Observation versus antiplatelet therapy as primary prophylaxis for thrombosis in low-risk essential thrombocythemia[J]. Blood, 2010, 116(8): 1205-1210; quiz 1387.
18
Broseus J, Florensa L, Zipperer E, et al. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis[J]. Haematologica, 2012, 97(7): 1036-1041.
19
Michiels JJ, Berneman Z, Schroyens W, et al. The paradox of platelet activation and impaired function: platelet-von Willebrand factor interactions, and the etiology of thrombotic and hemorrhagic manifestations in essential thrombocythemia and polycythemia vera[J]. Semin Thromb Hemost, 2006, 32(6): 589-604.
20
Nichele I, Ruggeri M, Rodeghiero F. Effectiveness of lenalidomide in a patient with refractory anemia with ring sideroblasts and thrombocytosis with JAK2 (V617F) mutation[J]. Am J Hematol, 2015, 90(8): E148-E149.
21
Nicolosi M, Mudireddy M, Vallapureddy R, et al. Lenalidomide therapy in patients with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[J]. Am J Hematol, 2018, 93(1): e27-e30.
22
Hunter AM, Al Ali N, Sallman DA, et al. WHO defined Chronic Myelomonocytic Leukemia-2(CMML- 2)patients rapidly progres to AML suggesting this entity represents a transitory clinical state [C]. Blood, 2019, 134(Supplement_1): 1717.
23
Kim J, Kim YR, Lee KA. Refractory anemia with ring sideroblasts associated with marked thrombocytosis harboring cytogenetic abnormality dup(2)(p15p22) treated with decitabine[J]. Leuk Lymphoma, 2012, 53(11): 2287-2289.
24
Cortelazzo S, Finazzi G, Ruggeri M, et al. Hydroxyurea for patients with outcome and prognostic models in patients with primary myelofibrosis and post-polycythemia vera and/or post-essential thrombocythemia myelofibrosis treated with ruxolitinib. New perspective of the MYSEC-PM in a large multicenter study[J]. Semin Hematol, 2018, 55(4): 248-255.
25
Azizi A, Ediriwickrema A, Dut ta R, et al. Venetoclax and hypomethylating agent therapy in high risk myelodysplastic syndromes:a retrospective evaluation of a real-world experience[J]. Leuk Lymphoma, 2020, 61(11): 2700-2707.
26
李叶琼, 包慎, 冶秀鹏, 等. 伴SF3B1基因突变的MDS/MPN-RS-T 1例临床分析并文献复习[J]. 现代肿瘤医学, 2020, 28(3): 481-483.
27
尹晶晶, 唐倩, 谷佳礼, 等. 探究新型端粒酶抑制剂Nilo 22对白血病细胞的杀伤作用与机制[J]. 中国实验血液学杂志, 2021, 29(4): 1056-1064.
28
Elghouat G, Yahyaoui H, Raissi A, et al. MDS/MPN-RS-T: a case report[J]. Ann Biol Clin (Paris), 2021, 79(4): 369-370.
29
Montalban-Bravo G, Garcia-Manero G. MDS/MPN-RS-T justified inclusion as a unique disease entity?[J]. Best Pract Res Clin Haematol, 2020, 33(2): 101147.
30
王术国, 周霞, 马树沛. 骨髓增生异常/骨髓增殖性肿瘤伴环形铁粒幼细胞和血小板增多一例报告并文献复习[J]. 中华肿瘤防治杂志, 2020, 27(23): 1937-1939.
31
宫文玉, 徐士云, 金其川, 等. 伴环形铁粒幼细胞和血小板增多的骨髓增生异常综合征/骨髓增殖性肿瘤2例并文献复习[J]. 白血病·淋巴瘤, 2022, 31(2): 103-106.
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