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1.
Clin Lab ; 67(9)2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34542973

RESUMO

BACKGROUND: Myeloproliferative neoplasms (MPN) are hematopoietic disorders characterized by abnormal proliferation of the myeloid lineage. Three classic subtypes are polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). These disorders are well known for their association with the JAK2 V617F mutation, in addition to mutations in MPL exon 10, and JAK2 exon 12. CALR mutations were detected in approximately 20% to 25% of patients with ET and PMF and not in patients with PV. Most CALR mutations were deletions and insertions in exon 9, which caused frameshift mutations. METHODS: This study included 60 Taiwanese patients with MPN. We identified CALR mutations in patients with MPN using the high-resolution melting (HRM) analysis. Additionally, the HRM analysis was compared with ipsogen CALR RGQ PCR. To confirm the results of HRM and ipsogen CALR RGQ PCR, sequencing analysis was also conducted all the samples. RESULTS: Up to 6.25% of CALR mutations were successfully detected in patients with MPN using HRM analysis. Eight out of 65 patients (12.3%) were positive for the presence of CALR mutation, including p.L367fs*46 and p.K385fs*47. The results proved 100% comparable to those obtained using ipsogen CALR RGQ PCR. CONCLUSIONS: The HRM analysis and ipsogen CALR RGQ PCR are feasible and reliable techniques for the detection of CALR mutation. Furthermore, HRM offers several benefits, for example, it is time-saving, inexpensive, and does not require many personnel.


Assuntos
Transtornos Mieloproliferativos , Policitemia Vera , Calreticulina/genética , Humanos , Janus Quinase 2/genética , Mutação , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/genética , Receptores de Trombopoetina/genética
2.
Sci Rep ; 7: 42577, 2017 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-28209963

RESUMO

Whether or not esophagogastric varices (EGV) could determine the outcomes of patients with hepatocellular carcinoma (HCC) is still unclear. A total of 990 treatment-naive HCC patients who received an esophagogastroduodenoscopy at the time of HCC diagnosis were retrospectively enrolled. The factors in terms of prognosis were analyzed by Cox proportional hazards model and propensity score matching analysis. Among the enrolled patients, 480 (48.5%) patients had EGV. Patients with EGV had a significantly lower cumulative 5-year survival rate than those without EGV (24.9% versus 46.4%, p < 0.001). It was confirmed by a multivariate analysis and propensity score matching analysis. Stratified by tumor stage, the patients with EGV had lower survival rates than the patients without EGVs in all Barcelona Clinic Liver Cancer stages except stage D. Moreover, the patients with EGV had lower survival rates than those without EGV, both by curative or non-curative treatment modalities. In conclusion, EGV was an independent risk factor predicting poor prognosis for the patients with HCC by multivariate analysis, propensity score matching analysis, and subgroup analysis.


Assuntos
Carcinoma Hepatocelular/complicações , Carcinoma Hepatocelular/mortalidade , Varizes Esofágicas e Gástricas/etiologia , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/mortalidade , Idoso , Biomarcadores , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/terapia , Terapia Combinada , Varizes Esofágicas e Gástricas/diagnóstico , Varizes Esofágicas e Gástricas/prevenção & controle , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/terapia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Modelos de Riscos Proporcionais , Análise de Sobrevida
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