儿童真性红细胞增多症研究进展

胡梁佳; 杨文钰

doi:10.7499/j.issn.1008-8830.2511004

PDF(519 KB)

HTML

中国当代儿科杂志 ›› 2026, Vol. 28 ›› Issue (7) : 898-903. DOI: 10.7499/j.issn.1008-8830.2511004

综述

儿童真性红细胞增多症研究进展

胡梁佳 ¹^,² ,
杨文钰 ¹^,²

作者信息 +

Progress in the study of polycythemia vera in children

Liang-Jia HU ¹^,² ,
Wen-Yu YANG ¹^,²

Author information +

文章历史 +

摘要

儿童真性红细胞增多症是一种极为罕见的骨髓增殖性肿瘤，以红系异常克隆性增生为特点。目前，成人真性红细胞增多症的相关研究已相对成熟，但针对儿童的诊断及治疗尚缺乏统一方案。由于儿童在生理特点、疾病进展等方面与成人存在较大差别，直接套用成人真性红细胞增多症的治疗方式并不可取，需要结合儿童患者的特殊性建立针对儿童的管理策略。该文系统性综述儿童真性红细胞增多症的病因、临床表现、诊断方法及治疗进展，旨在为临床决策和基础研究提供依据。

Abstract

Pediatric polycythemia vera is an exceedingly rare myeloproliferative neoplasm characterized by clonal overgrowth of the erythroid lineage. Although research on adult polycythemia vera is relatively well established, standardized diagnostic and therapeutic protocols for pediatric patients are lacking. Due to substantial differences in physiological characteristics and disease progression between children and adults, directly applying adult treatment regimens is not appropriate. Pediatric-specific management strategies tailored to the unique features of children are urgently needed. This article systematically reviews the etiology, clinical manifestations, diagnostic methods, and therapeutic advances of pediatric polycythemia vera, aiming to provide evidence to support clinical decision-making and basic research.

导出引用

胡梁佳, 杨文钰. 儿童真性红细胞增多症研究进展[J]. 中国当代儿科杂志. 2026, 28(7): 898-903 https://doi.org/10.7499/j.issn.1008-8830.2511004

Liang-Jia HU, Wen-Yu YANG. Progress in the study of polycythemia vera in children[J]. Chinese Journal of Contemporary Pediatrics. 2026, 28(7): 898-903 https://doi.org/10.7499/j.issn.1008-8830.2511004

参考文献

列表( 原文顺序 | 文献年度倒序 | 文中引用次数倒序 ) 可视化分析

[1]

Patnaik

, Tefferi

. Atypical chronic myeloid leukemia and myelodysplastic/myeloproliferative neoplasm, not otherwise specified: 2023 update on diagnosis, risk stratification, and management[J]. Am J Hematol, 2023, 98(4): 681-689. DOI: 10.1002/ajh.26828 .

https://www.ncbi.nlm.nih.gov/pubmed/36601682

本文引用 [1]

[2]

Verstovsek

, Yu

, Scherber

, et al. Changes in the incidence and overall survival of patients with myeloproliferative neoplasms between 2002 and 2016 in the United States[J]. Leuk Lymphoma, 2022, 63(3): 694-702. DOI: 10.1080/10428194.2021.1992756 .

https://www.ncbi.nlm.nih.gov/pubmed/34689695

本文引用 [1]

[3]

Hultcrantz

, Ravn Landtblom

, Andréasson

, et al. Incidence of myeloproliferative neoplasms: trends by subgroup and age in a population-based study in Sweden[J]. J Intern Med, 2020, 287(4): 448-454. PMCID: PMC7598815. DOI: 10.1111/joim.13019 .

https://www.ncbi.nlm.nih.gov/pubmed/31927786

本文引用 [1]

[4]

Ianotto

, Curto-Garcia

, Lauermanova

, et al. Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review[J]. Haematologica, 2019, 104(8): 1580-1588. PMCID: PMC6669170. DOI: 10.3324/haematol.2018.200832 .

https://www.ncbi.nlm.nih.gov/pubmed/30679326

本文引用 [6]

[5]	Duek A, Berla M, Ellis MH. Recent advances in the treatment of polycythemia vera[J]. Leuk Lymphoma, 2022, 63(8): 1801-1809. DOI: 10.1080/10428194.2022.2057491 . https://www.ncbi.nlm.nih.gov/pubmed/35387553 本文引用 [1]

[6]	Bader MS, Meyer SC. JAK2 in myeloproliferative neoplasms: still a protagonist[J]. Pharmaceuticals (Basel), 2022, 15(2): 160. PMCID: PMC8874480. DOI: 10.3390/ph15020160 . https://www.ncbi.nlm.nih.gov/pubmed/35215273 本文引用 [1]

[7]	Zhang Y, Zhao Y, Liu Y, et al. New advances in the role of JAK2 V617F mutation in myeloproliferative neoplasms[J]. Cancer, 2024, 130(24): 4229-4240. DOI: 10.1002/cncr.35559 . https://www.ncbi.nlm.nih.gov/pubmed/39277798 本文引用 [1]

[8]	Alshemmari SH, Rajan R, Ameen R, et al. Analysis of common driver mutations in Philadelphia-negative myeloproliferative neoplasms[J]. Clin Lymphoma Myeloma Leuk, 2021, 21(7): 483-488. DOI: 10.1016/j.clml.2021.03.005 . https://www.ncbi.nlm.nih.gov/pubmed/33858806 本文引用 [1]

[9]	Tremblay D, Kremyanskaya M, Mascarenhas J, et al. Diagnosis and treatment of polycythemia vera: a review[J]. JAMA, 2025, 333(2): 153-160. PMCID: PMC11921015. DOI: 10.1001/jama.2024.20377 . https://www.ncbi.nlm.nih.gov/pubmed/39556352 本文引用 [1]

[10]

Ishida

, Miyajima

, Hyakuna

, et al. Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: a retrospective nationwide survey[J]. EJHaem, 2020, 1(1): 86-93. PMCID: PMC9175656. DOI: 10.1002/jha2.39 .

https://www.ncbi.nlm.nih.gov/pubmed/35847744

本文引用 [1]

[11]	Picard A, Bayart S, Deparis M, et al. Polycythemia vera and essential thrombocythemia in children, still a challenge for pediatricians[J]. Eur J Pediatr, 2025, 184(2): 173. PMCID: PMC11794414. DOI: 10.1007/s00431-025-05993-1 . https://www.ncbi.nlm.nih.gov/pubmed/39903357 本文引用 [1]

[12]

Passamonti

, Rumi

, Pietra

, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications[J]. Leukemia, 2010, 24(9): 1574-1579. DOI: 10.1038/leu.2010.148 .

https://www.ncbi.nlm.nih.gov/pubmed/20631743

本文引用 [1]

[13]	Shimano KA, Vanderpoel V, Stone H, et al. Clinical features associated with thrombotic events in children with myeloproliferative neoplasms[J]. Am J Hematol, 2022, 97(9): E353-E355. PMCID: PMC9378702. DOI: 10.1002/ajh.26646 . https://www.ncbi.nlm.nih.gov/pubmed/35751861 本文引用 [1]

[14]	Rutherford K, Farnoud N, Krishnan A, et al. Mutational profile of children with myeloproliferative neoplasms[J]. Blood, 2022, 140(S1): 3991-3992. DOI: 10.1182/blood-2022-164732 . 本文引用 [1]

[15]	Ismael O, Shimada A, Hama A, et al. Mutations profile of polycythemia vera and essential thrombocythemia among Japanese children[J]. Pediatr Blood Cancer, 2012, 59(3): 530-535. DOI: 10.1002/pbc.23409 . https://www.ncbi.nlm.nih.gov/pubmed/22106054 本文引用 [1]

[16]

Sobas

, Kiladjian

, Beauverd

, et al. Real-world study of children and young adults with myeloproliferative neoplasms: identifying risks and unmet needs[J]. Blood Adv, 2022, 6(17): 5171-5183. PMCID: PMC9631631. DOI: 10.1182/bloodadvances.2022007201 .

https://www.ncbi.nlm.nih.gov/pubmed/35802458

本文引用 [1]

[17]	Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1 545 patients with contemporary polycythemia vera: an international study[J]. Leukemia, 2013, 27(9): 1874-1881. PMCID: PMC3768558. DOI: 10.1038/leu.2013.163 . https://www.ncbi.nlm.nih.gov/pubmed/23739289 本文引用 [1]

[18]

Enblom-Larsson

, Renlund

, Andréasson

, et al. Thromboembolic events, major bleeding and mortality in essential thrombocythaemia and polycythaemia vera: a matched nationwide population-based study[J]. Br J Haematol, 2024, 204(5): 1740-1751. DOI: 10.1111/bjh.19337 .

https://www.ncbi.nlm.nih.gov/pubmed/38351734

本文引用 [1]

[19]	Cario H, Mcmullin MF, Pahl HL. Clinical and hematological presentation of children and adolescents with polycythemia vera[J]. Ann Hematol, 2009, 88(8): 713-719. PMCID: PMC4135082. DOI: 10.1007/s00277-009-0758-y . https://www.ncbi.nlm.nih.gov/pubmed/19468728 本文引用 [1]

[20]

Barbui

, Tefferi

, Vannucchi

, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet[J]. Leukemia, 2018, 32(5): 1057-1069. PMCID: PMC5986069. DOI: 10.1038/s41375-018-0077-1 .

https://www.ncbi.nlm.nih.gov/pubmed/29515238

本文引用 [1]

[21]

Cerquozzi

, Barraco

, Lasho

, et al. Risk factors for arterial versus venous thrombosis in polycythemia vera: a single center experience in 587 patients[J]. Blood Cancer J, 2017, 7(12): 662. PMCID: PMC5802551. DOI: 10.1038/s41408-017-0035-6 .

https://www.ncbi.nlm.nih.gov/pubmed/29282357

本文引用 [1]

[22]

Debureaux

, Cassinat

, Soret-dulphy

, et al. Molecular profiling and risk classification of patients with myeloproliferative neoplasms and splanchnic vein thromboses[J]. Blood Adv, 2020, 4(15): 3708-3715. PMCID: PMC7422133. DOI: 10.1182/bloodadvances.2020002414 .

https://www.ncbi.nlm.nih.gov/pubmed/32777065

本文引用 [1]

[23]	Lee MW, Yeon SH, Ryu H, et al. Volumetric splenomegaly in patients with polycythemia vera[J]. J Korean Med Sci, 2022, 37(11): e87. PMCID: PMC8938613. DOI: 10.3346/jkms.2022.37.e87 . https://www.ncbi.nlm.nih.gov/pubmed/35315598 本文引用 [2]

[24]

Khoury

, Solary

, Abla

, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms[J]. Leukemia, 2022, 36(7): 1703-1719. PMCID: PMC9252913. DOI: 10.1038/s41375-022-01613-1 .

https://www.ncbi.nlm.nih.gov/pubmed/35732831

本文引用 [1]

[25]	Thiele J, Kvasnicka HM, Orazi A, et al. The international consensus classification of myeloid neoplasms and acute leukemias: myeloproliferative neoplasms[J]. Am J Hematol, 2023, 98(3): 544-545. DOI: 10.1002/ajh.26821 . https://www.ncbi.nlm.nih.gov/pubmed/36600640 本文引用 [1]

[26]	Mcmullin MF, Bareford D, Campbell P, et al. Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis[J]. Br J Haematol, 2005, 130(2): 174-195. DOI: 10.1111/j.1365-2141.2005.05535.x . https://www.ncbi.nlm.nih.gov/pubmed/16029446 本文引用 [1]

[27]	Kilinç YC, Bolat A, Gürsel O, et al. Etiology, diagnosis, and genetic analysis of polycythemia in pediatric population[J]. Indian J Hematol Blood Transfus, 2025, 41: 538-544. PMCID: PMC12267764. DOI: 10.1007/s12288-024-01887-8 . https://www.ncbi.nlm.nih.gov/pubmed/40687473 本文引用 [1]

[28]	Messinezy M, Westwood NB, El-Hemaidi I, et al. Serum erythropoietin values in erythrocytoses and in primary thrombocythaemia[J]. Br J Haematol, 2002, 117(1): 47-53. DOI: 10.1046/j.1365-2141.2002.03386.x . https://www.ncbi.nlm.nih.gov/pubmed/11918532 本文引用 [1]

[29]	McMullin MF. Congenital erythrocytosis[J]. Int J Lab Hematol, 2016, 38 (): 59-65. DOI: 10.1111/ijlh.12506 . https://www.ncbi.nlm.nih.gov/pubmed/27161533 本文引用 [1] 摘要 Suppl 1

[30]

Barbui

, Barosi

, Birgegard

, et al. Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet[J]. J Clin Oncol, 2011, 29(6): 761-770. PMCID: PMC4979120. DOI: 10.1200/jco.2010.31.8436 .

https://www.ncbi.nlm.nih.gov/pubmed/21205761

本文引用 [1]

[31]

Marchetti

, Vannucchi

, Griesshammer

, et al. Appropriate management of polycythaemia vera with cytoreductive drug therapy: European LeukemiaNet 2021 recommendations[J]. Lancet Haematol, 2022, 9(4): e301-e311. DOI: 10.1016/S2352-3026(22)00046-1 .

https://www.ncbi.nlm.nih.gov/pubmed/35358444

本文引用 [1]

[32]

Choi

, Hong

, Hwang

, et al. Evaluation of the need for cytoreduction and its potential carcinogenicity in children and young adults with myeloproliferative neoplasms[J]. Ann Hematol, 2021, 100(10): 2567-2574. DOI: 10.1007/s00277-021-04527-7 .

https://www.ncbi.nlm.nih.gov/pubmed/34331110

本文引用 [1]

[33]

Gisslinger

, Klade

, Georgiev

, et al. Event-free survival in patients with polycythemia vera treated with ropeginterferon alfa-2b versus best available treatment[J]. Leukemia, 2023, 37(10): 2129-2132. PMCID: PMC10539163. DOI: 10.1038/s41375-023-02008-6 .

https://www.ncbi.nlm.nih.gov/pubmed/37634011

本文引用 [1]

[34]	Kucine N, Bergmann S, Krichevsky S, et al. Use of pegylated interferon in young patients with polycythemia vera and essential thrombocythemia[J]. Pediatr Blood Cancer, 2021, 68(3): e28888. PMCID: PMC9040312. DOI: 10.1002/pbc.28888 . https://www.ncbi.nlm.nih.gov/pubmed/33381905 本文引用 [1]

[35]

Basquiera

, Pizzi

, Correas

, et al. Allogeneic hematopoietic stem cell transplantation in pediatric myelodysplastic syndromes: a multicenter experience from Argentina[J]. Pediatr Blood Cancer, 2015, 62(1): 153-157. DOI: 10.1002/pbc.25238 .

https://www.ncbi.nlm.nih.gov/pubmed/25264233

本文引用 [1]

[36]	Stoops K, Kuril S. Ruxolitinib in a child with JAK2 exon 12 mutant polycythemia vera[J]. J Pediatr Hematol Oncol, 2023, 45(4): e502-e505. DOI: 10.1097/MPH.0000000000002549 . https://www.ncbi.nlm.nih.gov/pubmed/36161965 本文引用 [2]

[37]

Harrison

, Nangalia

, Boucher

, et al. Ruxolitinib versus best available therapy for polycythemia vera intolerant or resistant to hydroxycarbamide in a randomized trial[J]. J Clin Oncol, 2023, 41(19): 3534-3544. PMCID: PMC10306428. DOI: 10.1200/JCO.22.01935 .

https://www.ncbi.nlm.nih.gov/pubmed/37126762

本文引用 [1]

[38]

Sørensen

, Skov

, Kjær

, et al. Combination therapy with ruxolitinib and pegylated interferon alfa-2a in newly diagnosed patients with polycythemia vera[J]. Blood Adv, 2024, 8(20): 5416-5425. PMCID: PMC11526083. DOI: 10.1182/bloodadvances.2024013170 .

https://www.ncbi.nlm.nih.gov/pubmed/39163611

本文引用 [1]

[39]	Ginzburg Y, Kirubamoorthy K, Salleh S, et al. Rusfertide (PTG-300) induction therapy rapidly achieves hematocrit control in polycythemia vera patients without the need for therapeutic phlebotomy[J]. Blood, 2021, 138(S1): 390. DOI: 10.1182/blood-2021-149205 . 本文引用 [1]

[40]	Chifotides HT, Bose P, Verstovsek S. Givinostat: an emerging treatment for polycythemia vera[J]. Expert Opin Investig Drugs, 2020, 29(6): 525-536. PMCID: PMC7534842. DOI: 10.1080/13543784.2020.1761323 . https://www.ncbi.nlm.nih.gov/pubmed/32693648 本文引用 [1]