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1.
Article in Chinese | WPRIM | ID: wpr-880096

ABSTRACT

OBJECTIVE@#To investigate the relationship between acute myeloid leukemia (AML) patients ASXL2, ZBTB7A gene mutations and the prognosis.@*METHODS@#42 AML Patients treated in our hospital from January 2014 to January 2016 were selected and ASXL2 and ZBTB7A genes of their bone marrow samples were sequenced, the genetic characteristics and prognosis of core-binding factor-AML(CBF-AML) patients with ASXL2 and ZBTB7A mutations were analyzed.@*RESULTS@#ASXL2 (33.3%) and ZBTB7A (9.5%) mutations were found in t (8; 21) AML patients. Compared with wild-type, patients with ASXL2 mutations showed significantly higher white blood cell count at diagnosis [(9.49±1.85)×10@*CONCLUSION@#ASXL2 and ZBTB7A mutations are frequently found in t (8; 21) AML patients. The mutation of ASXL2 and ZBTB7A genes shows no significant effect on the prognosis of AML patients.


Subject(s)
Cell Line, Tumor , DNA-Binding Proteins/genetics , Humans , Leukemia, Myeloid, Acute/genetics , Mutation , Oncogene Proteins, Fusion/genetics , Prognosis , Repressor Proteins/genetics , Transcription Factors/genetics
2.
Frontiers of Medicine ; (4): 347-371, 2021.
Article in English | WPRIM | ID: wpr-888736

ABSTRACT

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by genetic alterations with high heterogeneity. Precise subtypes with distinct genomic and/or gene expression patterns have been recently revealed using high-throughput sequencing technology. Most of these profiles are associated with recurrent non-overlapping rearrangements or hotspot point mutations that are analogous to the established subtypes, such as DUX4 rearrangements, MEF2D rearrangements, ZNF384/ZNF362 rearrangements, NUTM1 rearrangements, BCL2/MYC and/or BCL6 rearrangements, ETV6-RUNX1-like gene expression, PAX5alt (diverse PAX5 alterations, including rearrangements, intragenic amplifications, or mutations), and hotspot mutations PAX5 (p.Pro80Arg) with biallelic PAX5 alterations, IKZF1 (p.Asn159Tyr), and ZEB2 (p.His1038Arg). These molecular subtypes could be classified by gene expression patterns with RNA-seq technology. Refined molecular classification greatly improved the treatment strategy. Multiagent therapy regimens, including target inhibitors (e.g., imatinib), immunomodulators, monoclonal antibodies, and chimeric antigen receptor T-cell (CAR-T) therapy, are transforming the clinical practice from chemotherapy drugs to personalized medicine in the field of risk-directed disease management. We provide an update on our knowledge of emerging molecular subtypes and therapeutic targets in BCP-ALL.


Subject(s)
B-Lymphocytes , Humans , Mutation , Oncogene Proteins, Fusion/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Precursor Cell Lymphoblastic Leukemia-Lymphoma
3.
Journal of Experimental Hematology ; (6): 1831-1836, 2020.
Article in Chinese | WPRIM | ID: wpr-879979

ABSTRACT

OBJECTIVE@#To investigate the consistency between FCM and PCR on the detecting of MRD in TCF3-PBX1@*METHODS@#55 cases of paediatric TCF3-PBX1@*RESULTS@#Among the 55 children with TCF3-PBX1@*CONCLUSION@#The detection result of MRD in TCF3-PBX1 detect by FCM and PCR shows better consistency. MRD positivity detected by FCM at the end of induction therapy (day 33) predicts a high risk of relapse in TCF3-PBX1 ALL patients.


Subject(s)
Adolescent , Bone Marrow , Child , Child, Preschool , Female , Humans , Male , Neoplasm, Residual , Oncogene Proteins, Fusion/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Recurrence
4.
Article in Chinese | WPRIM | ID: wpr-879790

ABSTRACT

OBJECTIVE@#To study the clinical significance of minimal residual disease (MRD) in B-lineage acute lymphoblastic leukemia (B-ALL) pediatric patients with different fusion gene backgrounds.@*METHODS@#A retrospective analysis was performed on the medical data of 441 B-ALL children who were treated from January 2008 to April 2015. Among the 441 children, 336 had negative fusion gene, 79 had positive @*RESULTS@#In patients with negative fusion gene, the positive MRD group had significantly lower overall survival (OS) rate and event-free survival (EFS) rate (@*CONCLUSIONS@#MRD has the most definite prognostic significance in pediatric B-ALL patients with negative fusion gene, while it has unsatisfactory prognostic significance in those with positive


Subject(s)
Child , Core Binding Factor Alpha 2 Subunit , Disease-Free Survival , Homeodomain Proteins , Humans , Neoplasm, Residual/genetics , Oncogene Proteins, Fusion/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Prognosis , Retrospective Studies
8.
Hist. ciênc. saúde-Manguinhos ; 22(1): 201-219, Jan-Mar/2015.
Article in English | LILACS, BDS | ID: lil-741506

ABSTRACT

In the early twentieth century, Argentina began legislating occupational safety. Law no.9.688 legislated accidents in the workplace (1915) and granted legal jurisdiction to work-related problems. The approval of this legislation was in dialogue with proposals being produced in other regions. The links established between local figures and colleagues elsewhere are useful for examining the circulation, reception and legitimation of knowledge on a regional scale. The objective of this article is to examine the transnational references in local discussions about occupational accidents in Peru and Chile during the first half of the twentieth century.


A partir del siglo XX, se inició en la Argentina la legislación protectora del trabajo. La ley n.9.688 legisló sobre accidentes de trabajo (1915) y otorgó jurisdicción legal a los problemas relativos al trabajo. La sanción de este corpus estuvo en diálogo con las propuestas que se producían en otras latitudes. Los vínculos que se establecieron entre los referentes locales y sus colegas son de utilidad para abordar el estudio de circulación, recepción y legitimación de los saberes dentro de una escala regional. Así pues, el objetivo de este trabajo es revisar las referencias transnacionales en las discusiones locales sobre los accidentes laborales en Perú y Chile durante la primera mitad del siglo XX.


Subject(s)
Humans , Female , Adolescent , Biomarkers, Tumor , Carcinoma/diagnosis , Nasal Cavity , Nose Neoplasms/diagnosis , Nuclear Proteins/genetics , Oncogene Proteins, Fusion/genetics , Biopsy , Chemoradiotherapy , Carcinoma/chemistry , Carcinoma/genetics , Carcinoma/pathology , Carcinoma/therapy , Gene Fusion , Gene Rearrangement , Genetic Predisposition to Disease , Immunohistochemistry , In Situ Hybridization, Fluorescence , Nasal Cavity/chemistry , Nasal Cavity/pathology , Nose Neoplasms/chemistry , Nose Neoplasms/genetics , Nose Neoplasms/pathology , Nose Neoplasms/therapy , Phenotype , Polymerase Chain Reaction , Predictive Value of Tests , Sequence Analysis, DNA , Tomography, X-Ray Computed , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics
9.
Yonsei Medical Journal ; : 440-446, 2015.
Article in English | WPRIM | ID: wpr-141631

ABSTRACT

PURPOSE: Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients. MATERIALS AND METHODS: Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB. RESULTS: The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features. CONCLUSION: Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.


Subject(s)
Adolescent , Adult , Asian Continental Ancestry Group/genetics , Collagen Type I/genetics , DNA Primers , Dermatofibrosarcoma/ethnology , Female , Humans , Male , Middle Aged , Mohs Surgery , Multiplex Polymerase Chain Reaction , Neoplasm Recurrence, Local , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-sis/genetics , Republic of Korea , Reverse Transcriptase Polymerase Chain Reaction , Skin Neoplasms/ethnology , Treatment Outcome
10.
Yonsei Medical Journal ; : 440-446, 2015.
Article in English | WPRIM | ID: wpr-141630

ABSTRACT

PURPOSE: Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients. MATERIALS AND METHODS: Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB. RESULTS: The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features. CONCLUSION: Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.


Subject(s)
Adolescent , Adult , Asian Continental Ancestry Group/genetics , Collagen Type I/genetics , DNA Primers , Dermatofibrosarcoma/ethnology , Female , Humans , Male , Middle Aged , Mohs Surgery , Multiplex Polymerase Chain Reaction , Neoplasm Recurrence, Local , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-sis/genetics , Republic of Korea , Reverse Transcriptase Polymerase Chain Reaction , Skin Neoplasms/ethnology , Treatment Outcome
11.
Einstein (Säo Paulo) ; 12(4): 524-526, Oct-Dec/2014.
Article in Portuguese | LILACS | ID: lil-732446

ABSTRACT

O presente artigo faz uma abordagem de questões atuais sobre os polimorfismos genéticos, que têm sido objeto de estudo translacional no contexto do carcinoma de pulmão de células não pequenas. Além disso, discute os novos potenciais biomarcadores de risco e prognóstico.


This article addresses some current issues about genetic polymorphisms studied in the non-small-cell lung cancer translational field. Furthermore, it discusses about new potential biomarkers regarding lung cancer risk and prognosis.


Subject(s)
Humans , Carcinoma, Non-Small-Cell Lung/genetics , Lung Neoplasms/genetics , Polymorphism, Genetic/genetics , Epidermal Growth Factor/genetics , Oncogene Proteins, Fusion/genetics , Biomarkers, Tumor/genetics , Vascular Endothelial Growth Factor A/genetics
15.
Indian J Cancer ; 2013 Apr-June; 50(2): 80-86
Article in English | IMSEAR | ID: sea-148629

ABSTRACT

BACKGROUND: An in‑frame fusion protein between echinoderm microtubule‑associated protein‑like 4 (EML4) and anaplastic large cell kinase (ALK) genes is seen in some non‑small cell lung cancer (NSCLC). EML4‑ALK demonstrates constitutive kinase activity. These ALK‑positive lung carcinomas have been shown to respond to ALK kinase inhibitors. ALK gene rearrangement is commonly detected using fluorescent in situ hybridization (FISH). AIMS: To study the pathological features of ALK positive and negative NSCLC and evaluate the causes of uninterpretable FISH results. MATERIALS AND METHODS: This is a retrospective, observational study. The molecular pathology records of patients on whom test for ALK had been performed in a period of 1 year (February 2012 to February 2013) were accessioned. A total 224 cases were identified. Histological features were reviewed. The in situ hybridization was performed using Vysis ALK Dual Color Break Apart Rearrangement Probe (Abbott Molecular Inc.). Signal interpretation under the fluorescent microscope was performed in accordance with College of American Pathologists guidelines. RESULTS: Five patients showed ALK gene rearrangement, 182 were negative and 37 cases were uninterpretable. Five patients with ALK gene rearrangement had a mean age of 48 years and the male to female ratio was 2:3. In the ALK negative cases, the mean age was 54 years and male to female ratio was 3.2:1. Histologically, amongst the rearranged cases, three showed solid pattern, one showed acinar and one showed acinar with signet ring cells on histology. CONCLUSION: The percentage of ALK gene rearrangement was 2.7% (excluding the uninterpretable cases). These ALK positive patients were relatively younger than ALK negative patients. Solid pattern on histology was associated with ALK positivity. In a quarter of the uninterpretable results, the material submitted was fixed and processed outside.


Subject(s)
Adult , Aged , Carcinoma, Non-Small-Cell Lung/drug therapy , Carcinoma, Non-Small-Cell Lung/genetics , Carcinoma, Non-Small-Cell Lung/pathology , Female , Gene Rearrangement , Humans , In Situ Hybridization, Fluorescence , Precision Medicine , Male , Middle Aged , Oncogene Proteins, Fusion/genetics , Oncogene Proteins, Fusion/isolation & purification , Protein Kinase Inhibitors/administration & dosage , Retrospective Studies
16.
Rev. peru. med. exp. salud publica ; 30(1): 37-40, ene.-mar. 2013. ilus, graf, mapas, tab
Article in Spanish | LIPECS, LILACS, LIPECS | ID: lil-671688

ABSTRACT

El objetivo fue describir la frecuencia de los subtipos moleculares de PML/RARα en pacientes con leucemia promielocítica aguda (LPA) y su distribución según grupo de riesgo de recaída y citomorfología. Se realizó una serie de casos que incluyó a cincuenta pacientes registrados en el Instituto Nacional de Enfermedades Neoplásicas (INEN), durante el periodo 2010-2012, con diagnóstico molecular de LPA PML/RARα y subtipos bcr1, bcr2 y bcr3 por reacción en cadena de la polimerasa con transcriptasa reversa (RT-PCR). El subtipo bcr1 fue el más frecuente (62%). Los pacientes con riesgo de recaída intermedio y morfología hipergranular fueron, en su mayoría, bcr1 (70%) y todos los que poseían riesgo de recaída alto y morfología hipogranular fueron bcr3. Se concluye que en la población estudiada hay un predomino del subtipo bcr1 y que existen diferencias en la distribución de los subtipos bcr1 y bcr3 según el grupo de riesgo de recaída y citomorfología.


The objective was to describe the frequency of molecular subtypes of PML/RARα in patients with acute promyelocytic leukemia (APL) and their distribution according to risk of recurrence and cytomorphology. A case series was carried out, including fifty patients registered at the National Institute of Neoplastic Diseases (INEN) during 2010-2012, with molecular diagnosis of APL PML/RARα and bcr1, bcr2 and bcr3 subtypes by reverse-transcription polymerase chain reaction (RT-PCR). Bcr1 subtype was the most frequent (62%). Most patients with an intermediate risk of recurrence and hypergranular morphology were bcr1 (70%), while all patients with high risk of recurrence and hypogranular morphology were bcr3. A predominance of bcr1 subtype among the population studied can therefore be concluded, as well as the fact that there are differences in the distribution of bcr1 and bcr3 subtypes according to recurrence risk group and cytomorphology.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , Leukemia, Promyelocytic, Acute/genetics , Oncogene Proteins, Fusion/classification , Oncogene Proteins, Fusion/genetics
18.
Article in English | WPRIM | ID: wpr-155940

ABSTRACT

Recently, rearranged during transfection (RET) fusions have been identified in approximately 1% of non-small cell lung cancer (NSCLC). To know the prevalence of RET fusion genes in Korean NSCLCs, we examined the RET fusion genes in 156 surgically resected NSCLCs using a reverse transcriptase polymerase chain reaction. Two KIF5B-RET fusions and one CCDC6-RET fusion were identified. All three patients were females and never smokers with adenocarcinomas. RET fusion genes were mutually exclusive from EGFR, KRAS mutations and EML4-ALK fusion. RET fusion genes occur 1.9% (3 of 156) of surgically treated NSCLC patients in Koreans.


Subject(s)
Asian Continental Ancestry Group/genetics , Carcinoma, Non-Small-Cell Lung/epidemiology , Cytoskeletal Proteins/genetics , Female , Humans , Kinesin/genetics , Lung Neoplasms/epidemiology , Middle Aged , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-ret/genetics , Republic of Korea/epidemiology , Sequence Analysis, DNA
19.
Article in English | WPRIM | ID: wpr-125849

ABSTRACT

An 87-yr-old woman was diagnosed with AML with myelodysplasia-related changes (AML-MRC). The initial complete blood count showed Hb level of 5.9 g/dL, platelet counts of 27x10(9)/L, and white blood cell counts of 85.33x10(9)/L with 55% blasts. Peripheral blood samples were used in all the tests, as bone marrow examination could not be performed because of the patient's extremely advanced age and poor general health condition. Flow cytometric analysis, chromosome analysis, FISH, and reverse transcriptase-PCR (RT-PCR) results indicated AML-MRC resulting from t(3;21) with the RUNX1-MECOM fusion gene. To our knowledge, this is the second most elderly de novo AML patient associated with t(3;21) to be reported.


Subject(s)
Aged, 80 and over , Blood Cells/pathology , Chromosomes, Human, Pair 21 , Chromosomes, Human, Pair 3 , Female , Humans , Karyotyping , Leukemia, Myeloid, Acute/complications , Multiplex Polymerase Chain Reaction , Myelodysplastic Syndromes/complications , Oncogene Proteins, Fusion/genetics , Sequence Analysis, DNA , Translocation, Genetic
20.
Article in English | WPRIM | ID: wpr-43978

ABSTRACT

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.


Subject(s)
Aged, 80 and over , CD5 Antigens/metabolism , Bone Marrow/immunology , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 3 , Gene Rearrangement , Humans , Immunophenotyping , In Situ Hybridization, Fluorescence , Lymphoma, Mantle-Cell/diagnosis , Male , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-myc/genetics , Translocation, Genetic
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