| Chapter 1 Gene sequencing to detect the JAK2/MPL/CALR mutation of CMPN patients.Object It is aimed at confirm the gene mutation type of CMPN patient. Methods 35 cases selected during the study period from March of 2015 to March of 2016 were made a definite diagnosis with CMPN by the hematological department of Jingzhou Center Hospital. Meanwhile, for extending the data, a retrospective analysis of 43 CMPN patients was also performed. So the total of patients in the study was 78 with 38 male and 40 female patients aging from 28 to 70. Among them there were 21 PV patients,46 ET patients and 11 PMF patients. The method of RT-PCR amplified gene product with gene sequencing directly was applied to detect the JAK2, MPL and CALR mutation of 78 CMPN patients. Resaults The gene mutation rate of PV was 80.95% （17/21）; the gene mutation rate of ET was 91.31%（42/46）; the gene mutation rate of PMF was 36.36%（4/11）. The positive rate of JAK2 mutation was 67.95% including 17 PV patients （80.95%）,32 ET patients （69.57%） and 4 PMF patients （36.36%）; the positive rate of MPL was 2.56% including all the ET patients, and the mutation rate of MPL among cases was 4.35%; the positive rate of CALR mutation was 10.26% including all the ET patients, and the mutation rate of MPL among them was 17.39%. Two CALR mutation types were detected as I-type mutation （c.10921143del;p.L367fsX46） and II-type mutation （c.1154 1155ins TTGTC;p. K385fsX47）. The positive feature was not detected at the same time for two of JAK2 and CALR or three of JAK2, MPL and CALR. Conclusion CALR gene mutation is the specific molecular markers of CMPN. The detection of CALR gene mutation brought into the CMPN diagnostic system can improve the diagnostic accuracy.Chapter 2 Clinical Relationships between JAK2/MPL/CALR Mutation and CMPN PatientsObject It is aimed to investigate the gene mutation of JAK2, MPL and CALR in CMPN patients and compare the differences of partial clinical parameters for patients in the gene mutational groups of JAK2, MPL and CALR as well as their negative mutational groups. Methods 35 cases selected during the study period from March of 2015 to March of 2016 were made a definite diagnosis with CMPN by the hematological department of Jingzhou Center Hospital. Meanwhile, for extending the data, a retrospective analysis of 43 CMPN patients was also performed. So the total of patients in the study was 78 with 38 male and 40 female patients aging from 28 to 70. Among them there were 21 PV patients,46 ET patients and 11 PMF patients. The method of RT-PCR amplified gene product with gene sequencing directly was applied to detect the JAK2, MPL and CALR mutation of 78 CMPN patients. Results 1. Among 78 CMPN patients with negative BCR-ABL, the gene mutation rate of PV was 80.95% （17/21）; the gene mutation rate of ET was 91.31% （42/46）; the gene mutation rate of PMF was 36.36% （4/11）.2. The positive rate of JAK2 mutation was 67.95% including 17 PV patients （80.95%）,32 ET patients （69.57%） and 4 PMF patients （36.36%）; the positive rate of MPL was 2.56% including all the ET patients, and the mutation rate among cases was 4.35%; the positive rate of CALR mutation was 10.26% including all the ET patients, and the mutation rate among them was 17.39%.3. CMPN patients of positive JAK2/MPL mutation was higher than that of positive CALR mutation in WBC, hemoglobin level, thrombotic events, DIPSS-PLUS risk score and cardiovascular events （P<0.05）.While patients of positive CALR mutation was higher than that of positive JAK2/MPL mutation in BPC. And the transformation rate of bone fiber and leukemia was lower. Patients were with higher survive rate and outcomes. Conclusion There were following clinical manifestations comparing the ET and PMF patients of CALR mutation with patients of positive JAK2/MPL:high BPC, low WBC, low hemoglobin level, low DIPSS-PLUS risk score, lower incidence rate thrombotic and cardiovascular events, lower transformation rate of bone fiber and leukemia, higher survive rate and outcomes. |
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