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Objective@#To study the expression of miRNA-181a in acute myeloid leukemia (AML) patients with normal karyotype to probe its prognosis significance.@*Methods@#The expression level of miRNA-181a in bone marrow mononuclear cells of 120 de novo AML patients with normal karyotype was detected by real time fluorescence quantitative PCR. The direct sequencing method was used to detect IDH1, IDH2, NPM1, FLT3-ITD, DNMT3A and CEBPα mutations in CN-AML patients after PCR. The relationship between miRNA-181a expression and gene mutation, the clinical parameters and prognosis were analyzed.@*Results@#The rates of overall surviva1 (OS) in high expression and low expression groups were 25.0 months and 15.0 months, respectively (P<0.05) . Relapse free survival (RFS) in high expression and low expression groups were 21.4 months and 11.2 months, respectively (P<0.05) . Significantly higher level hemoglobin, complete remission rate and proportion of wild type NPM1 expression in the high expression of miRNA-181a group were observed when compared with the lower expression of miRNA-181a group (P<0.05) . Multivariate Cox regression analysis showed miRNA-181a overexpression was an independent prognostic factor for CN-AML (HR=2.219, 95%CI 1.601~2.432, P=0.018) .@*Conclusion@#Higher expression of miRNA-181a was a good prognostic factor independent of clinical parameters and high frequency gene mutations, which implicated that the miRNA-181a expression level could be used as an important prognostic indicator of AML patients with normal karyotype.
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Objective To investigate the expression of the preferentially expressed antigen of melanoma (PRAME) gene in acute myeloid leukemia (AML),and to evaluate its applicability in monitoring minimal residual disease (MRD).Methods Bone marrow specimens were collected from 63 cases of de-novo AML,while 34 samples from 11 patients were tracked for 28 months.The level of PRAME mRNA was measured by real time RT-PCR.Results The PRAME gene expressed in 52.4 ％ (33/63) of de-novo patients,and the positive rate was highest in M3 than that in other subtypes of AML.The expression of PRAME became negative after treatment and increased in the following months before morphology relapse.Conclusion The PRAME gene is highly expressed in AML and could be a useful marker to monitor MRD.
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A 23-year-old male with a history of bone marrow transplant for acute myeloid leukemia. He presented a large mass in the right inguinal region 5 years ago. Upon physical examination, right-sided cryptorchidism was observed. The tumor markers alpha-fetoprotein and beta-HCG were within normalcy range and lactate dehydrogenase was raised. Computed tomography of the abdomen and pelvis revealed right testicular mass in contiguity with the inguinal canal to the ipsilateral retroperitoneum, associated with right hydronephrosis. Due to the risk of germ-cell tumor in undescended testicle, the patient underwent radical right orchiectomy. The pathological examination showed recurrence of acute myeloid leukemia in the testis. He was referred to oncology for adjuvant therapy. Our literature review found no similar cases described.
Paciente de 23 anos, masculino, com antecedente de transplante de medula óssea por leucemia mieloide aguda. Há 5 anos, apresentou volumosa massa em região inguinal direita. No exame físico, foi constatada criptorquidia à direita. Os marcadores tumorais alfa-fetoproteína e beta-HCG encontravam-se dentro da normalidade, e a desidrogenase láctica estava aumentada. A tomografia computadorizada de abdomen e pelve revelou massa testicular direita com contiguidade pelo canal inguinal, até o retroperitônio ipsilateral, associada a hidronefrose direita. Devido ao alto risco de neoplasia germinativa em testículo criptorquídico, o paciente foi submetido à orquiectomia radical direita, cujo anatomopatológico revelou recidiva de leucemia mieloide aguda em testículo. Foi encaminhado para oncologia para terapia adjuvante. Nossa revisão não revelou nenhum caso semelhante na literatura.
Subject(s)
Humans , Male , Young Adult , Cryptorchidism/surgery , Leukemia, Myeloid, Acute/surgery , Neoplasm Recurrence, Local/surgery , Orchiectomy/methods , Testicular Neoplasms/surgery , Biopsy , Bone Marrow Transplantation , Cryptorchidism/pathology , Leukemia, Myeloid, Acute/pathology , Neoplasm Recurrence, Local/pathology , Tomography, X-Ray Computed , Treatment Outcome , Testicular Neoplasms/pathologyABSTRACT
Acute myeloid leukemia (AML) is a group of heterogeneous diseases with diverse genetic abnormalities,variable responsiveness to therapy and prognosis.In recent years,a lot of information has become available regarding chromosome and gene mutations that occur in AML and their influence on prognosis.Improvements in the understanding of molecular biology of AML are critical for accurate diagnosis.risk stratification,monitoring of minimal residual disease and provides opportunities to develop targeted therapies and improve the clinical outcome.This article reviewed chromosome abnormalities and characteristic gene mutations,and discussed their clinical signiflcances and presented new drugs in clinical trials presented in the 55th ASH annual meeting.
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Objective Estahlished the method to detect different transcripts of EVI1 gene expression with quantitative PCR and study the expression patterns of EVI1 gene in different leukemia groups to investigate the association between EVI1 gene expression and the incidence and prognosis of leukemia.Methods 60 cases acute myeloid leukemia (AML) and 9 cases normal control were detected in the study,37 cases were male and 32 cases were female,age 10-70 years,median age 42 years,M3 36 cases,M2 16 cases and M4 8 cases according to FAB classification criteria,control samples of nine cases were normal healthy people.Using the quantitative PCR (Taq Man probe) to detect the expression of different transcripts of EVI1 gene.The t test was used to detect the expression difference among different leukemia groups.Results ABL gene was used as internal reference,relative changes of EVI1 gene expression level were detected by EVI1/ABL.In all the control patients,EVI1 gene of different transcription of this expression were detected,expression level of EVI1 gene different transcription was significant with the difference (P ＜ 0.05),transcription 2 and 5 (the same primers) were the lowest,followed for transcription 1 and 6,expression of transcription 3 was the highest.The expression levels of transcripts 2 and 5,1,6,3 were nagative,0.005,0.050 and 0.512 respectively in healthy control samples.In addition,the EVI1 gene expression was negatively correlated with expression of the fusion gene AML-ETO and CBFB-MYH11 in AML.Conclusion The study established a stable,fast and accurate method to detect the expression of EVI1 gene.
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ObjectiveTo explore the clinical significance of fms-like tyrosine kinase3(FLT3) expression in evaluation prognosis of acute myeloid leukemia(AML) prognosis.Methods50 patients with AML were selected.AML patients with normal karyotype were 20 cases,the abnormal karyotype were 30 cases.3ml bone marrow before themotherapy was aspirated respectively,and the FLT3 gene expression in leukemia cells was detected with polyenzyme chain react(PCR).ResultsThe FLT3 expression rate in AML patients with normal karyotype was 5.0％,and was 26.7％ in AML patients with abnormal karyotype,33.3％ in AML patients with refractory-relapse,and 4.5％ in AML patients with continue remission.The FLT3 expression rate was related with high leukemia cells percentage in bone marrow and high blood cells count in peripheral blood,and was not related with Franch America British(FAB) classification.The free-disease survival(FDS) and overall survived(OS) was shorter in FLT3 expression AML patients than that in no FLT3 expression AML patients.There was a statistical significance between the former and the latter( x2 =4.17,P ＜0.05 ).Conclusion FLT3 was a kind of worse factor in AML patients prognosis,and could guide clinical individual treatment in AML.
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Most of the systemic diseases manifest signs and symptoms in oral cavity. Periodontal lesions are common in patients with acute leukemia throughout the course of the disease. Although many cases of gingival enlargement in patients with acute myeloid leukemia have been reported in literature, cases of gingival hypertrophy secondary to acute lymphoblastic leukemia in adult female are rare. This is a case report of gingival enlargement in acute lymphoblastic leukemia along with a case of gingival enlargement in patient with acute myeloid leukemia.
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Objective To develop a method of real-time quantitative polymerase chain reaction (RQ-PCR) for detection of translocation ETS leukemia-acute myeloid leukemia 1(TEL-AML1) fusion gene in children with acute lymphoblast leukemia(ALL),and explore its clinical application in minimal residual disease (MRD) monitoring.Methods By reverse transcription and RQ-PCR,a quantifying of TEL-AML1 fusion gene was developed,and the expression levels of TEL-AML1 were detected in bone marrow (BM) samples obtained from 24 children with ALL at diagnosis and at the end of induction of remission,as well as at a series of follow-up. Moreover,the results of MRD detection by RQ-PCR were compared with that of detection by routine morphological examine of BM and cells differentiation mark analysis by flow cytometer(FCM),to evaluate the sensitivity of RQ-PCR in MRD monitoring. Results A method of RQ-PCR targeted at TEL-AML1 fusion gene was established. In 11 BM samples,which collected from TEL-AML1 positive children at the end of induction therapy and all of them achieved completely remission (CR) by routine morphological examine,5 samples were found to be MRD positive by RQ-PCR,positive ratio was 45%. There were 15 BM samples collected in maintenance therapy period,and all these samples were CR by routine morphological examine. However,by RQ-PCR,3 out of 15 samples were found to be MRD positive during maintenance therapy period. After intense and maintenance therapy,the MRD levels of the 3 children were declined to negative. In a recrudescent child,the expression of TEL-AML1 fusion gene was rose by a magnitude of 103 copies before relapse,and after induction therapy once again the patient was completely relaxed.Conclusions RQ-PCR targeted at TEL-AML1 has a higher sensitivity than conventional morphologic way and FCM. RQ-PCR can be used in the quantitative detection of MRD,and provide gist for early prognosticating a relapse and instructing clinical therapy.