目的探讨急性全髓细胞增生症伴骨髓纤维化(APMF)患者的临床特征、诊疗策略及预后,并进行相关文献复习。方法选择2020年5月11日就诊于南京医科大学第一附属医院血液科的1例62岁APMF男性患者(患者1)为研究对象。采用回顾性分析方法,对其病史、临床特征、实验室及辅助检查结果等临床资料,以及诊治过程进行分析。对患者1的随访截至2022年11月12日。本研究以"急性全髓细胞增生症伴骨髓纤维化""acute panmyelosis with myelofibrosis""APMF"为中、英文关键词,在中国知网数据库、PubMed数据库中检索APMF相关文献,并总结相关病例的诊疗资料。文献检索时间设定为数据库建库至2023年5月1日。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求,并获得患者1及其家属知情同意。结果①患者1因"血常规检查结果异常1周"入院。入院后,患者1血常规检查结果示,白细胞计数(WBC)、中性粒细胞计数、血小板计数、血红蛋白(Hb)值、红细胞计数分别为5.89×10^(9)/L、4.01×10^(9)/L、276×10^(9)/L、70 g/L、3.52×10^(12)/L。血清乳酸脱氢酶、铁蛋白水平升高。骨髓细胞形态学检查结果示,骨髓原始细胞比例为8.8%,三系增生减低伴明显病态造血。过氧化物酶染色及糖原染色结果均显示,原始细胞呈阴性;提示急性髓细胞白血病(AML)(APMF可能性大)。骨髓活组织病理学检查结果示,骨髓增生极度活跃,原幼细胞小簇增生,占有核细胞比例约为20%,原早红细胞比例明显增高,巨核细胞以细胞体小、少分叶的巨核细胞为主,纤维组织弥漫性增生,骨髓纤维化(MF)-3级,提示APMF。骨髓免疫分型结果示,CD34+细胞占有核细胞比例为1.1%,表达髓系标志物,成熟粒细胞比例明显减低伴轻度分化异常,红系比例异常增高,单核细胞比例减少。染色体核型分析结果为46,XY[11]。二代测序(NGS)结果提示,患者伴一级变异U2AF1和RUNX1突�
BACKGROUND Acute upper gastrointestinal bleeding is a common medical emergency that has a 10%hospital mortality rate.According to the etiology,this disease can be divided into acute varicose veins and nonvaricose veins.Bleeding from esophageal varices is a life-threatening complication of portal hypertension.Portal hypertension is a clinical syndrome defined as a portal venous pressure that exceeds 10 mmHg.Cirrhosis is the most common cause of portal hypertension,and thrombosis of the portal system not associated with liver cirrhosis is the second most common cause of portal hypertension in the Western world.Primary myeloproliferative disorders are the main cause of portal venous thrombosis,and somatic mutations in the Janus kinase 2 gene(JAK2 V617F)can be found in approximately 90% of polycythemia vera,50% of essential thrombocyrosis and 50% of primary myelofibrosis.CASE SUMMARY We present a rare case of primary myelofibrosis with gastrointestinal bleeding as the primary manifestation that presented as portal-superior-splenic mesenteric vein thrombosis.Peripheral blood tests revealed the presence of the JAK2 V617F mutation.Bone marrow biopsy ultimately confirmed the diagnosis of myelofibrosis(MF-2 grade).CONCLUSION In patients with acute esophageal variceal bleeding due to portal hypertension and vein thrombosis without cirrhosis,the possibility of myeloproliferative neoplasms should be considered,and the JAK2 mutation test should be performed.
