以门静脉高压症为主要表现的骨髓增殖性肿瘤临床特征分析

冯丽娟; 王艳; 王民; 张冠华; 何福亮; 赵新颜; 王宇

doi:10.3969/j.issn.1001-5256.2023.02.017

以门静脉高压症为主要表现的骨髓增殖性肿瘤临床特征分析

DOI: 10.3969/j.issn.1001-5256.2023.02.017

首都医科大学附属北京友谊医院肝病中心，北京 100050

基金项目:

首都卫生发展科研专项 (2022-2-1104);

北京市医院管理局消化内科学科协同发展中心消化专项特色项目 (XXT04)

利益冲突声明：本研究不存在研究者、伦理委员会成员、受试者监护人以及与公开研究成果有关的利益冲突。

作者贡献声明：冯丽娟负责课题设计，资料分析，撰写论文；王艳、王民、张冠华、何福亮、赵新颜参与收集数据，修改论文；王宇负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
王宇，wangyuliver@ccmu.edu.cn (ORCID: 0000-0003-1800-2082)

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出版历程
- 收稿日期: 2022-07-30
- 录用日期: 2022-09-13
- 出版日期: 2023-02-20

Clinical features of myeloproliferative neoplasms with portal hypertension as the main manifestation

Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China

Research funding:

Captial's Funds for Healthy Improvement and Research (2022-2-1104);

Digestive Medical Coordinated Development Center of Beijing Hospitals Authority (XXT04)

More Information

Corresponding author: WANG Yu, wangyuliver@ccmu.edu.cn (ORCID: 0000-0003-1800-2082)

摘要

摘要: 目的探讨以门静脉高压症为主要表现的骨髓增殖性肿瘤(MPN)患者的临床特征、肝脏组织学特点及诊疗方法。方法纳入2019年1月—2022年2月在北京友谊医院肝病中心以门静脉高压症就诊，最终诊断为MPN的患者，回顾性分析其临床表现、肝脏病理特征、治疗和随访结果。结果共纳入9例患者，所有患者均有脾大及食管胃底静脉曲张，其中8例患者有门静脉血栓。所有患者肝功能及血常规均在正常范围或轻度异常。6例患者行肝穿刺活检，均未见肝脏纤维间隔及假小叶形成，2例可见肝脏髓外造血现象。所有患者均行骨髓活检及基因检测，6例为原发性血小板增多症，3例为原发性骨髓纤维化；基因检测结果显示，JAK-2V617F基因突变7例，CALR基因突变2例。结论 MPN是门静脉高压的少见病因之一，临床可表现为食管胃底静脉曲张和脾大，甚至巨脾，但无白细胞和血小板减低等脾功能亢进表现。JAK-2V617F和CALR基因检测可提高MPN的诊断率。
- 高血压, 门静脉 /
- 骨髓增殖性疾病 /
- 静脉血栓栓塞
Abstract: Objective To investigate the clinical features, liver histological features, and diagnostic and treatment methods for patients with myeloproliferative neoplasms (MPN) with portal hypertension as the main manifestation. Methods A retrospective analysis was performed for related data of the patients who attended the hospital due to portal hypertension and were finally diagnosed with MPN in Liver Research Center, Beijing Friendship Hospital, from January 2019 to February 2022, including clinical manifestation, liver pathological features, treatment, and follow-up results. Results Nine patients were included in this study, and all the patients had splenomegaly and esophageal and gastric varices, while portal vein thrombosis was observed in eight patients. All patients had normal or slightly abnormal liver function and routine blood test results. Six patients underwent liver biopsy, without the formation of fibrous septum and pseudolobule, and hepatic extramedullary hematopoiesis was observed in two patients. All nine patients underwent bone marrow biopsy and genetic testing, among whom six had essential thrombocythemia and three had primary myelofibrosis, and genetic testing revealed JAK-2V617F gene mutation in seven patients and CALR gene mutation in two patients. Conclusion MPN is one of the rare causes of portal hypertension and has the clinical manifestations of esophageal and gastric varices, splenomegaly, and even megalosplenia, without the manifestations of hypersplenism such as leukopenia and thrombocytopenia. Detection of the JAK-2V617F and CALR genes can improve the diagnostic rate of MPN.
- Hypertension, Portal /
- Myeloproliferative Disorders /
- Venous Thromboembolism

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图 1 CT见门静脉血栓及门静脉海绵样变性

注：a，可见门静脉血栓形成(箭头)；b，可见门静脉海绵样变性及广泛侧支循环形成。

Figure 1. Computerized tomography images indicated portal vein thrombosis and portal cavernoma

下载: 全尺寸图片幻灯片

图 2 病例9肝穿刺病理特征

注：a，未见纤维间隔及假小叶形成(HE染色，×20)；b，箭头为肝窦中的巨核细胞，为髓外造血(HE染色，×100)。

Figure 2. Pathological features of liver biopsy

下载: 全尺寸图片幻灯片

表 1 9例患者的人口学及临床特征

Table 1. Demographic and clinical characteristics of 9 patients

病例	性别	年龄 (岁)	病程 (月)	首发症状	PHT				HVPG	MPN亚型	基因	治疗
病例	性别	年龄 (岁)	病程 (月)	首发症状	门静脉血栓	食管胃底静脉曲张	食管胃底静脉曲张出血	腹水	HVPG	MPN亚型	基因	治疗
1	男	51	3	脾肿大	有	胃底轻度	无	无	-	ET	JAK2V617F	羟基脲
2	女	55	25	脾肿大	有	胃底胃体重度	无	无	-	ET	JAK2V617F	华法林+羟基脲
3	女	35	4	脾肿大	有	食管胃底中度	无	无	-	ET	JAK2V617F	羟基脲
4	男	46	74	呕血、黑便	有	食管胃底重度	有	有	-	PMF	JAK2V617F	芦可替尼+EVL
5	女	63	24	脾肿大	有	食管胃底中度	无	无	-	ET	JAK2V617F	羟基脲
6	男	32	26	腹痛	有	食管胃底重度	有	有	-	ET	CALR	羟基脲+低分子肝素+EVL
7	女	55	72	脾肿大	有	食管胃底重度	有	有	5	PMF	JAK2V617F	干扰素+EVL
8	男	59	240	脾肿大	有	胃底轻度	无	无	6	ET	JAK2V617F	羟基脲
9	女	70	72	呕血、黑便	无	食管胃底重度	有	有	14	PMF	CALR	芦可替尼+EVL

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表 2 9例患者实验室指标

Table 2. Laboratory results of 9 patients

实验室指标	MPN患者
男性[例(%)]	4(44.4)
年龄(岁)	55(46~59)
白细胞计数(10⁹/L)	7.02(6.02~7.62)
血红蛋白(g/L)	128(94~136)
血小板(10⁹/L)	279(204~352)
谷丙转氨酶(U/L)	21(14~22)
白蛋白(g/L)	38.1(37.4~40.3)
球蛋白(g/L)	26.5(25.5~27.4)
总胆红素(μmol/L)	16.6(12.6~24.8)
凝血酶原时间活动度(%)	75.8(68.7~83.7)
脾脏厚度(cm)	5.50(5.08~6.03)
脾脏长径(cm)	18.25(16.10~20.95)

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