AbstractThe paucity of essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF) in individuals younger than 18 years highlights several unresolved issues in diagnosis, clinical outcomes, and treatment strategies. To address these knowledge gaps, we analyzed a large bidirectional cohort consisting of childhood and adolescent ET (CAA-ET, n = 156) and pre-PMF (CAA-preMF, n = 13), as well as adult ET (n = 349).

摘要18岁以下个体缺乏原发性血小板增多症（ET）和纤维化前原发性骨髓纤维化（pre-PMF），突出了诊断，临床结果和治疗策略中几个尚未解决的问题。为了解决这些知识差距，我们分析了一个由儿童和青少年ET（CAA-ET，n=156）和PMF前（CAA-preMF，n=13）以及成人ET（n=349）组成的大型双向队列。

We introduced immunophenotypic abnormalities as novel clonal markers in CAA-ET and CAA-preMF, establishing a comprehensive method for clonal marker detection that integrated driver and non-driver mutations, positive endogenous erythroid colony formation, immunophenotypic abnormalities, and chromosomal aberrations.

我们在CAA-ET和CAA-preMF中引入了免疫表型异常作为新的克隆标记，建立了一种用于克隆标记检测的综合方法，该方法整合了驱动突变和非驱动突变，阳性内源性红细胞集落形成，免疫表型异常和染色体畸变。

Next-generation sequencing revealed distinct mutational profiles between CAA-ET and adult ET, along with different age-related trends in the distribution of driver mutations. Venous thrombosis was more prevalent in CAA-ET, with JAK2 V617F emerging as a potential risk factor (P = 0.018). Immunophenotypic abnormalities were identified as risk factors for disease progression (P = 0.027).

下一代测序揭示了CAA-ET和成人ET之间不同的突变谱，以及驱动突变分布的不同年龄相关趋势。静脉血栓形成在CAA-ET中更为普遍，JAK2 V617F成为潜在的危险因素（P=0.018）。免疫表型异常被确定为疾病进展的危险因素（P=0.027）。

Significant differences between expected and actual treatment practices were identified. Compared to CAA-ET, CAA-preMF demonstrated poorer progression-free survival (P < 0.001) and faster disease progression (P = 0.019). This study provides a critical foundation for refining diagnostic, prognostic, and therapeutic approaches for CAA-ET and CAA-preMF..

确定了预期和实际治疗实践之间的显着差异。与CAA-ET相比，CAA-preMF表现出较差的无进展生存期（P<0.001）和更快的疾病进展（P=0.019）。这项研究为改进CAA-ET和CAA-preMF的诊断，预后和治疗方法提供了重要基础。。

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Fig. 1: Distribution of driver mutations in childhood and adolescent essential thrombocythemia, childhood and adolescent prefibrotic primary myelofibrosis, and adult essential thrombocythemia patients.Fig. 2: Distribution of mutations in childhood and adolescent essential thrombocythemia and adult essential thrombocythemia patients revealed by next-generation sequencing.Fig.

图1：儿童和青少年原发性血小板增多症，儿童和青少年纤维化前原发性骨髓纤维化以及成人原发性血小板增多症患者中驱动突变的分布。图2：通过下一代测序揭示的儿童和青少年原发性血小板增多症和成人原发性血小板增多症患者突变的分布。图。

3: Distribution of clonal markers in childhood and adolescent essential thrombocythemia and childhood and adolescent prefibrotic primary myelofibrosis patients.Fig. 4: Factors influencing thrombosis and disease progression in childhood and adolescent essential thrombocythemia and childhood and adolescent prefibrotic primary myelofibrosis.Fig.

3： 克隆标志物在儿童和青少年原发性血小板增多症和儿童和青少年纤维化前原发性骨髓纤维化患者中的分布。图4：影响儿童和青少年原发性血小板增多症和儿童和青少年纤维化前原发性骨髓纤维化血栓形成和疾病进展的因素。图。

5: Real-world treatment practices in childhood and adolescent essential thrombocythemia..

5： 儿童和青少年原发性血小板增多症的现实治疗实践。。

Data availability

数据可用性

The datasets generated and analyzed during the current study are available from the corresponding authors upon reasonable request.

在当前研究期间生成和分析的数据集可根据合理要求从通讯作者处获得。

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Download referencesAcknowledgementsThis project was supported by grants from the National Natural Science Foundation of China (82470147, 82400176, 81600099, 82270152, 81970121, 82000136), National Science and Technology Major Project (2023ZD0500800, 2023ZD0500803), Clinical Research Fund of National Center for Clinical Medical Research of Hematology Diseases (2023NCRCA0109), CAMS Innovation Fund for Medical Sciences (CIFMS) (2021-I2M-1-073), Tianjin Municipal Science and Technology Commission (18JCQNJC11900), and CIFMS (2022-I2M-2-003, 2021-I2M-1-003).

下载参考文献致谢本项目得到了国家自然科学基金（82470147824001768160009982270152819701282000136）、国家科技重大项目（2023ZD0508002023ZD050803）、国家血液病临床医学研究中心临床研究基金（2023NCRCA0109）、中国医学科学院医学科学创新基金（CIFMS）（2021-I2M-1-073）、天津市科学技术委员会（18JCQNJC11900）和CIFMS（2022-I2M-2-003、2021-I2M-1）的资助-003）。

We would like to express our gratitude to Professor Yingchang Mi from the Outpatient and Emergency Department and Professor Shangzhu Li from the Internal Medicine Department at the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, for their assistance with patient information.

我们要感谢中国医学科学院和北京协和医学院血液与血液病研究所医院门急诊科的Mi Yingchang教授和内科的Li Shangzhu教授在患者信息方面的帮助。

We would also like to thank Huijun Wang, Yujiao Jia, Yin Shi, and Yuanyuan Li from the Pathology Center at the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, for their assistance in data analysis.Author informationAuthor notesThese authors contributed equally: Rongfeng Fu, Huan Dong, Wenjing Gu, Ke Meng.Authors and AffiliationsState Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300020, ChinaRongfeng Fu, Huan Dong, Wenjing Gu, Ke Meng, Ting Sun, Xiaofan Liu, Xinmiao Qu, Ji.

我们还要感谢中国医学科学院血液病研究所和北京协和医学院病理中心的王惠军，贾玉娇，尹石和李元元在数据分析方面的帮助。作者信息作者注意到这些作者做出了同样的贡献：傅荣峰，董欢，顾文静，柯梦。作者及所属单位实验血液学国家重点实验室，国家血液病临床研究中心，海河细胞生态实验室，天津市血液病基因治疗重点实验室，中国医学科学院血液病研究所血液病医院CAMS血液病基因治疗重点实验室，中国协和医科大学，天津，300020，中国荣峰府，环东，顾文静，柯萌，孙婷，刘晓凡，曲新苗，季。

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PubMed Google ScholarContributionsRF conceptualized the study, collected clinical data, performed data analyses, and wrote the manuscript. XZ, RY, HL, and LZ participated in study conceptualization and provided guidance on data analysis. HD, WG, KM, TS, XL, XQ, and JC contributed to study conceptualization, clinical data collection, and data analysis.

PubMed Google ScholarContributionsRF对这项研究进行了概念化，收集了临床数据，进行了数据分析，并撰写了手稿。XZ，RY，HL和LZ参与了研究概念化，并为数据分析提供了指导。。

FX, WL, YC, MJ, and XD were involved in patient follow-up and scale implementation. WW, XP, and YC conducted laboratory experiments, including next-generation sequencing, pathology, and immunophenotyping. All authors reviewed the manuscript.Corresponding authorsCorrespondence to.

FX，WL，YC，MJ和XD参与了患者随访和规模实施。WW，XP和YC进行了实验室实验，包括下一代测序，病理学和免疫表型分析。。通讯作者通讯。

Xiaofan Zhu, Renchi Yang, Huiyuan Li or Lei Zhang.Ethics declarations

朱晓凡、杨仁驰、李慧媛或张磊。道德宣言

Competing interests

相互竞争的利益

The authors declare no competing interests.

作者声明没有利益冲突。

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Additional informationPublisher的注释Springer Nature在已发布地图和机构隶属关系中的管辖权主张方面保持中立。补充信息补充材料权利和许可Pringer Nature或其许可方（例如协会或其他合作伙伴）根据与作者或其他权利持有人的出版协议对本文拥有独家权利；本文接受稿件版本的作者自行存档仅受此类出版协议和适用法律的条款管辖。转载和许可本文引用本文Fu，R.，Dong，H.，Gu，W。

et al. Childhood and adolescent essential thrombocythemia and prefibrotic primary myelofibrosis: insights into diagnosis, outcomes, and treatment from a large Chinese cohort..

儿童和青少年原发性血小板增多症和纤维化前原发性骨髓纤维化：对中国大型队列的诊断，结果和治疗的见解。。

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