loading...| Preferred Name |
T-Cell Acute Lymphoblastic Leukemia |
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| Synonyms |
PathwayType: signaling PMID: 16826225 PMID: 20800819 CellType: T-cell PMID: 18488097 Notes: Headnote: T-cell acute lymphoblastic leukemia (T-ALL) results from the malignant transformation of T-cells and represents 15% of childhood and 25% of adult ALL cases. T-ALL patients frequently present high peripheral blast counts, central nervous system dissemination, and larger mediastinal masses at diagnosis. Signaling description: Several recurrent genetic alterations have been identified in T-ALL. Chromosomal translocations occur in about 20% of cases and result in either fusions between the coding regions of two genes which leads to chimeric protein expression, or fusions between proto-oncogenes and T-cell receptor (TCR) loci which triggers oncogene overexpression (e.g., TAL1, TAL2, TLX1, TLX3, HOXA, LMO1, LMO2, MYB, and others). Aberrations involving TCR gene regions can be detected in 35% of patients. One of the most frequent types of alterations in T-ALL (more than 50% of cases) is NOTCH1 mutations which initiate the activation of NOTCH1-dependent transcriptional programs. In addition, deletion or inactivating mutations in CDKN2A and CDKN2B genes occur in about 70% of cases. Furthermore, JAK1 is mutated in 18% of adult patients with T-ALL; clinically, these patients may represent an unfavorable prognostic subgroup. The activation of several signaling pathways including PI3K/Akt, MAPK, JAK-STAT, and NF-kB has also been reported in T-ALL. Additionally, IL7 production by microenvironment and CXCL12/CXCR4 interaction between stromal cells and T-cells were found to be important for T-ALL development. Outcome effects: All of the described events lead to block of apoptosis, block of differentiation, and uncontrolled proliferation that promote development and progression of T-ALL. Highlighted proteins: Proteins with increased expression or activity are highlighted in red, and proteins with decreased expression or activity are highlighted in blue. PMID: 18379008 PMID: 19181788 Tissue: blood CellType: cancer cell PMID: 17329966 Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-0ca5e9dc-0a4b-4bb7-9240-b28e74e69729 PMID: 20861166 Tissue: bone marrow PMID: 18596915 Description: T-cell acute lymphoblastic leukemia (T-ALL) results from the malignant transformation of T-cells and represents 15? of childhood and 25? of adult ALL cases. Pathway is built manually using published studies. NodeType: Pathway Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin PMID: 18691165 Source: Diseases |
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| ID |
urn:agi-pathway:uuid-0ca5e9dc-0a4b-4bb7-9240-b28e74e69729 |
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| database_cross_reference |
PS:PathwayType PS:Description PS:Tissue PS:Pathway_Author PS:Link PS:CellType PS:PMID PS:NodeType PS:Notes PS:Source |
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| has_exact_synonym |
PathwayType: signaling PMID: 16826225 PMID: 20800819 CellType: T-cell PMID: 18488097 Notes: Headnote: T-cell acute lymphoblastic leukemia (T-ALL) results from the malignant transformation of T-cells and represents 15% of childhood and 25% of adult ALL cases. T-ALL patients frequently present high peripheral blast counts, central nervous system dissemination, and larger mediastinal masses at diagnosis. Signaling description: Several recurrent genetic alterations have been identified in T-ALL. Chromosomal translocations occur in about 20% of cases and result in either fusions between the coding regions of two genes which leads to chimeric protein expression, or fusions between proto-oncogenes and T-cell receptor (TCR) loci which triggers oncogene overexpression (e.g., TAL1, TAL2, TLX1, TLX3, HOXA, LMO1, LMO2, MYB, and others). Aberrations involving TCR gene regions can be detected in 35% of patients. One of the most frequent types of alterations in T-ALL (more than 50% of cases) is NOTCH1 mutations which initiate the activation of NOTCH1-dependent transcriptional programs. In addition, deletion or inactivating mutations in CDKN2A and CDKN2B genes occur in about 70% of cases. Furthermore, JAK1 is mutated in 18% of adult patients with T-ALL; clinically, these patients may represent an unfavorable prognostic subgroup. The activation of several signaling pathways including PI3K/Akt, MAPK, JAK-STAT, and NF-kB has also been reported in T-ALL. Additionally, IL7 production by microenvironment and CXCL12/CXCR4 interaction between stromal cells and T-cells were found to be important for T-ALL development. Outcome effects: All of the described events lead to block of apoptosis, block of differentiation, and uncontrolled proliferation that promote development and progression of T-ALL. Highlighted proteins: Proteins with increased expression or activity are highlighted in red, and proteins with decreased expression or activity are highlighted in blue. PMID: 18379008 PMID: 19181788 Tissue: blood CellType: cancer cell PMID: 17329966 PMID: 20861166 Tissue: bone marrow PMID: 18596915 Description: T-cell acute lymphoblastic leukemia (T-ALL) results from the malignant transformation of T-cells and represents 15? of childhood and 25? of adult ALL cases. Pathway is built manually using published studies. NodeType: Pathway Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin PMID: 18691165 Source: Diseases |
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| id |
urn:agi-pathway:uuid-0ca5e9dc-0a4b-4bb7-9240-b28e74e69729 |
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| label |
T-Cell Acute Lymphoblastic Leukemia |
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| notation |
uuid-0ca5e9dc-0a4b-4bb7-9240-b28e74e69729 |
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| prefLabel |
T-Cell Acute Lymphoblastic Leukemia |
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| treeView |
urn:agi-folder:t urn:agi-folder:t-cell_acute_lymphoblastic_leukemia urn:agi-folder:blood |
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| subClassOf |
urn:agi-folder:t urn:agi-folder:t-cell_acute_lymphoblastic_leukemia urn:agi-folder:blood |