A Case Of Primary Myelofibrosis With Paroxysmal Nocturnal Hemoglobinuria And Literature Review

Objective:Exploring the pathogenesis of primary myelofibrosis with paroxysmal nocturnal hemoglobinuria,in order to improve the understanding of the disease and choose a reasonable and effective treatment.Methods: The clinical characteristics of this patient were analyzed.Bone marrow imaging and bone marrow pathology were performed by means of cytochemical staining and silver staining.Flow cytometry was used to detect CD55 and CD59 on the surface of erythrocytes and granulocytes.FLAER detection was performed on granules and monocytes.For further diagnosis,high-throughput sequencing technology was used for genetic testing.Results:The patient was clinically characterized by severe splenomegaly and anemia,which might be diagnosed with PMF by bone marrow examination.However,bone marrow pathology showed active hyperplasia of granulocyte,erythrocyte and megalogium,and myelofibrosis grade 3.Genetic testing showed that the BCR/ABL fusion gene was negative and JAK2 V617 F was positive.Therefore the patient was diagnosed as: PMF.Then the patient was treated with danazol,testosterone undecanoate,erythropoietin(EPO),thalidomide,and blood product support.Blood product infusion was ineffective during treatment and brown urine appeared.Improving the relevant examination: blood routine test shows high reticulocyte,direct bilirubin,indirect bilirubin is high,Coombs test is negative for 2 times,FCM shows CD5,CD59 and FLAER reduction,PIG-A gene mutation Positive.Therefore,the patient was diagnosed as: PMF with PNH.Conclusions:At present,there were few studies on PMF with PNH at home and abroad.Therefore,through systematic review of relevant literatures,the pathogenesis,diagnosis and treatment of PMF with PNH were discussed to provide ideas for clinical treatment.