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1.
Chinese Journal of Pathology ; (12): 454-459, 2023.
Article in Chinese | WPRIM | ID: wpr-985700

ABSTRACT

Objective: To investigate the clinicopathological, immunohistochemical and molecular genetic characteristics of gastric carcinoma with NTRK-rearrangement/amplification. Methods: The clinicopathological data of gastric carcinoma cases with NTRK-rearrangement/amplification diagnosed from January 2011 to September 2020 at the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, China, were collected. The clinicopathological, immunophenotypic and molecular pathological features were analyzed. The relevant literature was reviewed. Results: There were 4 cases of gastric carcinoma with NTRK-rearrangement/amplification. All 4 patients were male, aged 57-67 years (average, 63 years). Tumor sizes ranged from 3.5 to 5.2 cm (average, 4.8 cm). All tumors were in the antrum. All 4 patients underwent radical gastrectomy and were followed up after the surgery. Morphologically, all tumors showed histological features with enteroblastic-differentiated gastric carcinoma. Tumor cells showed predominantly tubular/papillary architecture, with conspicuous vesicular nuclei and pale staining or transparent cytoplasm. Immunohistochemistry showed pan-TRK expression in all cases, with various degrees of positivity in the cytoplasm. All cases were subject to NTRK1/2/3 detection using fluorescence in situ hybridization. There were NTRK translocations in 2 cases and NTRK amplifications in 2 cases. These cases were further verified by RNAseq next generation sequencing which confirmed that NTRK1 gene translocation (TPM3-NTRK1) and NTRK2 gene translocation (NTRK2-SMCHD1) occurred in two cases, respectively. Conclusions: NTRK mutation occurs less frequently in gastric cancer. In this study, the cases mainly occur in the antrum. The morphology has the characteristics of enteroblastic differentiation. The tumors have unique histological, immunophenotypic and molecular characteristics, which require much attention from pathologists to effectively guide clinicians to choose the best treatment.


Subject(s)
Humans , Male , Female , Receptor, trkA/genetics , Stomach Neoplasms/surgery , In Situ Hybridization, Fluorescence , Biomarkers, Tumor/genetics , Translocation, Genetic , Carcinoma , Oncogene Proteins, Fusion/genetics , Chromosomal Proteins, Non-Histone/genetics
2.
Chinese Journal of Lung Cancer ; (12): 319-324, 2023.
Article in Chinese | WPRIM | ID: wpr-982162

ABSTRACT

Lung cancer is the most common in incidence and mortality worldwide. With the development of next generation sequencing (NGS) detection technology, more and more patients with rare anaplastic lymphoma kinase (ALK) fusion mutations were detected. A case of advanced lung adenocarcinoma with rare COX7A2L-ALK (C2:A20) fusion detected by NGS was reported in Peking Union Medical College Hospital, and all cases with rare ALK fusion mutations were searched from medical datebase from January 1, 2014 to March 31, 2021, to investigate the treatment of rare ALK fusion mutations with ALK inhibitors. The best response of the patient was assessed as partial response (PR) with Ceritinib treatment. By literature review, 22 cases of rare ALK fusion were reported in 19 articles. Combined with this case, 23 cases were analyzed. The objective response rate (ORR) was 82.6% (19/23) and disease control rate (DCR) was 95.7% (22/23) for rare ALK fusions patients treated with ALK inhibitors. Lung adenocarcinoma patients with rare ALK fusion could benefit from ALK inhibitors.
.


Subject(s)
Humans , Anaplastic Lymphoma Kinase/genetics , Lung Neoplasms/diagnosis , Crizotinib , Adenocarcinoma of Lung/genetics , Protein Kinase Inhibitors/pharmacology , Oncogene Proteins, Fusion/genetics
3.
Chinese Journal of Lung Cancer ; (12): 78-82, 2023.
Article in Chinese | WPRIM | ID: wpr-971182

ABSTRACT

Lung squamous cell carcinoma (LSCC) accounts for approximately 30% of non-small cell lung cancer (NSCLC) cases and is the second most common histological type of lung cancer. Anaplastic lymphoma kinase (ALK)-positive NSCLC accounts for only 2%-5% of all NSCLC cases, and is almost exclusively detected in patients with lung adenocarcinoma. Thus, ALK testing is not routinely performed in the LSCC population, and the efficacy of such treatment for ALK-rearranged LSCC remains unknown. Echinoderm microtubule associated protein like 4 (EML4)-ALK (V1) and TP53 co-mutations were identified by next generation sequencing (NGS) in this patient with advanced LSCC. On December 3, 2020, Ensatinib was taken orally and the efficacy was evaluated as partial response (PR). The progression-free survival (PFS) was 19 months. When the disease progressed, the medication was changed to Loratinib. To our knowledge, Enshatinib created the longest PFS of ALK-mutant LSCC patients treated with targeted therapy since literature review. Herein, we described one case treated by Enshatinib involving a patient with both EML4-ALK and TP53 positive LSCC, and the relevant literatures were reviewed for discussing the treatment of this rare disease.
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Subject(s)
Humans , Carcinoma, Non-Small-Cell Lung/drug therapy , Lung Neoplasms/pathology , Anaplastic Lymphoma Kinase/metabolism , Carcinoma, Squamous Cell/genetics , Mutation , Cytoskeletal Proteins/genetics , Lung/pathology , Oncogene Proteins, Fusion/genetics , Protein Kinase Inhibitors/therapeutic use , Tumor Suppressor Protein p53/genetics
4.
Chinese Journal of Pathology ; (12): 13-18, 2023.
Article in Chinese | WPRIM | ID: wpr-970118

ABSTRACT

Objective: To investigate the clinicopathological and cytogenetic features of cryptic COL1A1-PDGFB fusion dermatofibrosarcoma protuberans (CC-DFSP). Methods: Three cases of CC-DFSP diagnosed in West China Hospital, Sichuan University, Chengdu, China from January 2021 to September 2021 were studied. Immunohistochemistry for CD34 and other markers, fluorescence in situ hybridization (FISH) for PDGFB, COL1A1-PDGFB and COL1A1, next-generation sequencing (NGS), reverse-transcriptase polymerase chain reaction (RT-PCR) and Sanger sequencing were performed. Results: There were three cases of CC-DFSP, including two females and one male. The patients were 29, 44 and 32 years old, respectively. The sites were abdominal wall, caruncle and scapula. Microscopically, they were poorly circumscribed. The spindle cells of the tumors infiltrated into the whole dermis or subcutaneous tissues, typically arranging in a storiform pattern. Immunohistochemically, the neoplastic cells exhibited diffuse CD34 expression, but were negative for S-100, SMA, and Myogenin. Loss of H3K27me3 was not observed in the tumor cells. The Ki-67 index was 10%-15%. The 3 cases were all negative for PDGFB rearrangement and COL1A1-PDGFB fusion, whereas showing unbalanced rearrangement for COL1A1. Case 1 showed a COL1A1 (exon 31)-PDGFB (exon 2) fusion using NGS, which was further validated through RT-PCR and Sanger sequencing. All patients underwent extended surgical resection. Except for case 3 with recurrence 2 years after surgical resection, the other 2 cases showed no recurrence or metastasis during the follow-up. Conclusions: FISH has shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and widely applied in clinical detection. However, for cases with negative routine FISH screening that were highly suspicious for DFSPs, supplementary NGS or at least COL1A1 break-apart FISH screening could be helpful to identify cryptic COL1A1-PDGFB fusions or other variant fusions.


Subject(s)
Female , Humans , Male , Adult , Collagen Type I, alpha 1 Chain , Dermatofibrosarcoma/pathology , In Situ Hybridization, Fluorescence , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-sis/genetics , Skin Neoplasms/pathology
5.
Chinese Journal of Hematology ; (12): 132-136, 2023.
Article in Chinese | WPRIM | ID: wpr-969688

ABSTRACT

Objective: To assess the clinical characteristics and prognosis of patients with SIL-TAL1-positive T-cell acute lymphoblastic leukemia (T-ALL) . Methods: The clinical data of 19 SIL-TAL1-positive T-ALL patients admitted to the First Affiliated Hospital of Soochow University between January 2014 and February 2022 were retrospectively computed and contrasted with SIL-TAL1-negative T-ALL patients. Results: The median age of the 19 SIL-TAL1-positive T-ALL patients was 15 (7 to 41 years) , including 16 males (84.2%) . SIL-TAL1-positive T-ALL patients had younger age, higher WBC, and hemoglobin compared with SIL-TAL1-negative T-ALL patients. There was no discrepancy in gender distribution, PLT, chromosome abnormality distribution, immunophenotyping, and complete remission (CR) rate. The 3-year overall survival (OS) was 60.9% and 74.4%, respectively (HR=2.070, P=0.071) . The 3-year relapse-free survival (RFS) was 49.2% and 70.6%, respectively (HR=2.275, P=0.040) . The 3-year RFS rate of SIL-TAL1-positive T-ALL patients was considerably lower than SIL-TAL1-negative T-ALL patients. Conclusion: SIL-TAL1-positive T-ALL patients were connected to younger age, higher WBC, higher HGB, and poor outcome.


Subject(s)
Adolescent , Adult , Humans , Male , Young Adult , Female , Child , Chromosome Aberrations , Oncogene Proteins, Fusion/genetics , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Recurrence , Retrospective Studies , T-Cell Acute Lymphocytic Leukemia Protein 1/genetics , T-Lymphocytes
6.
Chinese Journal of Hematology ; (12): 366-372, 2023.
Article in Chinese | WPRIM | ID: wpr-984631

ABSTRACT

Objective: To investigate the effect of the AML1-ETO (AE) fusion gene on the biological function of U937 leukemia cells by establishing a leukemia cell model that induces AE fusion gene expression. Methods: The doxycycline (Dox) -dependent expression of the AE fusion gene in the U937 cell line (U937-AE) were established using a lentivirus vector system. The Cell Counting Kit 8 methods, including the PI and sidanilide induction, were used to detect cell proliferation, cell cycle-induced differentiation assays, respectively. The effect of the AE fusion gene on the biological function of U937-AE cells was preliminarily explored using transcriptome sequencing and metabonomic sequencing. Results: ①The Dox-dependent Tet-on regulatory system was successfully constructed to regulate the stable AE fusion gene expression in U937-AE cells. ②Cell proliferation slowed down and the cell proliferation rate with AE expression (3.47±0.07) was lower than AE non-expression (3.86 ± 0.05) after inducing the AE fusion gene expression for 24 h (P<0.05). The proportion of cells in the G(0)/G(1) phase in the cell cycle increased, with AE expression [ (63.45±3.10) %) ] was higher than AE non-expression [ (41.36± 9.56) %] (P<0.05). The proportion of cells expressing CD13 and CD14 decreased with the expression of AE. The AE negative group is significantly higher than the AE positive group (P<0.05). ③The enrichment analysis of the transcriptome sequencing gene set revealed significantly enriched quiescence, nuclear factor kappa-light-chain-enhancer of activated B cells, interferon-α/γ, and other inflammatory response and immune regulation signals after AE expression. ④Disorder of fatty acid metabolism of U937-AE cells occurred under the influence of AE. The concentration of the medium and short-chain fatty acid acylcarnitine metabolites decreased in cells with AE expressing, propionyl L-carnitine, wherein those with AE expression (0.46±0.13) were lower than those with AE non-expression (1.00±0.27) (P<0.05). The metabolite concentration of some long-chain fatty acid acylcarnitine increased in cells with AE expressing tetradecanoyl carnitine, wherein those with AE expression (1.26±0.01) were higher than those with AE non-expression (1.00±0.05) (P<0.05) . Conclusion: This study successfully established a leukemia cell model that can induce AE expression. The AE expression blocked the cell cycle and inhibited cell differentiation. The gene sets related to the inflammatory reactions was significantly enriched in U937-AE cells that express AE, and fatty acid metabolism was disordered.


Subject(s)
Humans , U937 Cells , RUNX1 Translocation Partner 1 Protein , Leukemia/genetics , Core Binding Factor Alpha 2 Subunit/genetics , Oncogene Proteins, Fusion/genetics , Leukemia, Myeloid, Acute/genetics
7.
Chinese Journal of Pathology ; (12): 28-32, 2022.
Article in Chinese | WPRIM | ID: wpr-935466

ABSTRACT

Objective: To investigate the clinicopathological features, molecular characteristics, differential diagnosis and prognosis of anaplastic lymphoma kinase (ALK)-translocation renal cell carcinoma. Methods: Two cases of ALK-translocation renal cell carcinoma diagnosed from January 2011 to December 2020 were retrospectively analyzed to characterize their morphological features, immunohistochemical expression and prognosis. Multiple molecular studies including fluorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and next-generation sequencing were performed to characterize the genetic alterations. Results: Two patients included one male and one female, with 59 and 57 years old, respectively. Morphologically, case 1 resembled collecting duct carcinoma or renal medullary carcinoma, which demonstrated tubular, microcapsule and reticular structures, with a remarkable myxoid background and lymphocytes infiltration; case 2 resembled Xp11.2 translocation renal cell carcinoma or type 2 papillary renal cell carcinoma, which demonstrated tubular papillary and focal solid structures, with flocculent cytoplasm and many foamy histiocytes, but without myxoid background and lymphocytes infiltration. Immunohistochemistry showed strongly positive expression of ALK. CK7, E-cadherin, vimentin, PAX8 and CD10 showed various degrees of expression, and other antibodies were nonreactive. A variety of molecular assays showed definite ALK gene translocation, with rare VCL-ALK gene fusion (VCL exon and 16-ALK exon 20) in case 1, and EML4-ALK gene fusion (EML4 exon and 2-ALK exon 20) in case 2. Conclusions: ALK-translocation renal cell carcinoma is rare with various morphological features, and is easy to miss and misdiagnose. The characteristic ALK expression and molecular detection of ALK translocation are helpful for diagnosing this type of renal cell carcinoma.


Subject(s)
Female , Humans , Male , Anaplastic Lymphoma Kinase/genetics , Carcinoma, Renal Cell/genetics , In Situ Hybridization, Fluorescence , Kidney Neoplasms/genetics , Lung Neoplasms , Oncogene Proteins, Fusion/genetics , Retrospective Studies
8.
Chinese Journal of Hematology ; (12): 336-341, 2022.
Article in Chinese | WPRIM | ID: wpr-935091

ABSTRACT

Objective: To retrospectively analyze the data of Chinese patients with newly diagnosed acute promyelocytic leukemia (APL) to preliminarily discuss the clinical and cytogenetic characteristics. Methods: From February 2004 to June 2020, patients with newly diagnosed APL aged ≥ 15 years who were admitted to the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Science & Peking Union Medical College were chosen. Clinical and laboratory features were retrospectively analyzed. Results: A total of 790 cases were included, with a male to female ratio of 1.22. The median age of the patients was 41 (15-76) years. Patients aged between 20 and 59 predominated, with 632 patients (80%) of 790 patients classified as low and intermediate risk and 158 patients (20%) of 790 patients classified as high risk. The white blood cell, platelet, and hemoglobin levels at diagnosis were 2.3 (0.1-176.1) ×10(9)/L, 29.5 (2.0-1220.8) ×10(9)/L, and 89 (15-169) g/L, respectively, and 4.8% of patients were complicated with psoriasis. The long-form type of PML-RARα was most commonly seen in APL, accounting for 58%. Both APTT extension (10.3%) and creatinine>14 mg/L (1%) are rarely seen in patients at diagnosis. Cytogenetics was performed in 715 patients with newly diagnosed APL. t (15;17) with additional chromosomal abnormalities were found in 155 patients, accounting for 21.7%; among which, +8 was most frequently seen. A complex karyotype was found in 64 (9.0%) patients. Next-generation sequencing was performed in 178 patients, and 113 mutated genes were discovered; 75 genes had an incidence rate>1%. FLT3 was the most frequently seen, which accounted for 44.9%, and 20.8% of the 178 patients present with FLT3-ITD. Conclusions: Patients aged 20-59 years are the most common group with newly diagnosed APL. No obvious difference was found in the ratio of males to females. In terms of risk stratification, patients divided into low and intermediate risk predominate. t (15;17) with additional chromosomal abnormalities accounted for 21% of 715 patients, in which +8 was most commonly seen. The long-form subtype was most frequently seen in PML-RARα-positive patients, and FLT3 was most commonly seen in the mutation spectrum of APL.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Chromosome Aberrations , Cytogenetics , Leukemia, Promyelocytic, Acute/genetics , Mutation , Oncogene Proteins, Fusion/genetics , Retrospective Studies
9.
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)
Humans , B-Lymphocytes , Mutation , Oncogene Proteins, Fusion/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Precursor Cell Lymphoblastic Leukemia-Lymphoma
10.
Journal of Peking University(Health Sciences) ; (6): 915-920, 2021.
Article in Chinese | WPRIM | ID: wpr-942274

ABSTRACT

OBJECTIVE@#To investigate the clinical features and prognosis of acute myeloid leukemia (AML) patients with the mixed lineage leukemia (MLL) gene rearrangements AF6 (MLL-AF6) positive.@*METHODS@#In the study, 11 patients who were newly diagnosed with MLL-AF6 positive AML were analyzed retrospectively, related literature was reviewed to clarify the clinical features and prognosis of MLL-AF6 positive patients.@*RESULTS@#Among the 11 patients, there were 6 males and 5 females, with a median age of 36 years. Six patients were diagnosed with AML M5 and five with M4 according to FAB classification (French-American-British classification systems). Gingival swelling and pain occurred in 6 cases and fever occurred in 5 cases. At first diagnosis, the median white blood cells were 55.5×109/L. Immunotype showed the expression of myeloid/monocyte and early stem cell series antigens. The expression level of MLL-AF6 fusion gene (real-time quantitative PCR) was 14.2%-214.5%, and 6/11 cases (54.5%) were associated with high EVI1 gene expression. Mutations of KRAS, TET2, ASXL1, TP53, DNMT3A, and FLT3-ITD were detected by next generation sequencing (NGS) in 4 patients. Chromosome G banding examination showed that 2 cases were t(6;11)(q27, q23) with complex karyotype abnormality, 4 cases with +8 abnormality and 2 cases with normal karyotype. Hematological complete remission (CR) was achieved in 8/11 patients (72.7%) after conventional induction chemotherapy, and primary drug resistance was observed in 3 patients. Two of the eight patients with CR were negative for minimal residual disease (MRD), with a median CR duration of 4.5 months. Two patients with positive MRD and three patients with refractory recurrence underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), but all died due to leukemia progression. At the end of follow-up on December 1, 2019, 2 patients were alive and 9 died, with median survival time of 9 months.@*CONCLUSION@#The AML patients with MLL-AF6 positive were mostly young, the majority of FAB types were M4 and M5, and most of the patients often had fever as the first symptom, with increased white blood cells, accompanied by organ infiltration, and high EVI1 gene expression. The hematological remission rate of routine chemotherapy is not low, but it is difficult to achieve molecular remission, most of which have early recurrence. Early allo-HSCT in a molecular negative state may prolong the CR duration.


Subject(s)
Adult , Female , Humans , Male , Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute/genetics , Myeloid-Lymphoid Leukemia Protein/genetics , Oncogene Proteins, Fusion/genetics , Prognosis , Remission Induction , Retrospective Studies
11.
Journal of Experimental Hematology ; (6): 450-455, 2021.
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)
Humans , Cell Line, Tumor , DNA-Binding Proteins/genetics , Leukemia, Myeloid, Acute/genetics , Mutation , Oncogene Proteins, Fusion/genetics , Prognosis , Repressor Proteins/genetics , Transcription Factors/genetics
12.
Chinese Journal of Contemporary Pediatrics ; (12): 1279-1285, 2020.
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 , Humans , Core Binding Factor Alpha 2 Subunit , Disease-Free Survival , Homeodomain Proteins , Neoplasm, Residual/genetics , Oncogene Proteins, Fusion/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Prognosis , Retrospective Studies
13.
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 , Child , Child, Preschool , Female , Humans , Male , Bone Marrow , Neoplasm, Residual , Oncogene Proteins, Fusion/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Recurrence
17.
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
18.
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 , Female , Humans , Male , Middle Aged , Asian People/genetics , Collagen Type I/genetics , DNA Primers , Dermatofibrosarcoma/ethnology , 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
19.
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 , Female , Humans , Male , Middle Aged , Asian People/genetics , Collagen Type I/genetics , DNA Primers , Dermatofibrosarcoma/ethnology , 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
20.
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
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