Compendium of Cancer Genome Aberrations

HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions

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|''NF1''
|''NF1''
|Mutations and focal deletions<ref name=":2" />
|Mutations and focal deletions. In 68% of the cases, the ''NF1'' deletions were intragenic involving exons 15 through 35<ref name=":2" />.
|Tumor supressor gene
|Tumor supressor gene
|Mutations: Recurrent
|Mutations: Recurrent
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|No established significance
|No established significance
|No (NCCN)
|No (NCCN)
|Associated with near-haploid B-ALL
|Associated with near-haploid B-ALL. It was identified as a putative RAS signaling inhibitor and have a negative regulatory function in proximal B-cell receptor signaling<ref name=":2" />.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


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===Other Mutations===
'''RTK-RAS signaling pathways''': About two-thirds of near haploid ALL (71%) had activation of RTK-RAS signaling pathways including deletion, amplification and sequence mutation of ''NF1'', ''NRAS'', ''KRAS'', ''MAPK1'', ''FLT3'' and ''PTPN11''<ref name=":2" />. ''NF1'' mutation was reported in 44% of near haploid cases with a biallelic mutation of ''NF1'' in 77% of the near haploid cases. In 68% of the cases, the ''NF1'' deletions were intragenic involving exons 15 through 35<ref name=":2" />. The focal deletion results in deletion of ''GAP''<ref name=":2" />.
'''''PAG1'' mutations''': Recurrent alterations of ''PAG1'' was reported in 10.3% of near haploid ALL, ''PAG1'' mutations are rare in other hypodiploid cases<ref name=":2" />. ''PAG1'' was identified as a putative RAS signaling inhibitor and have a negative regulatory function in proximal B-cell receptor signaling<ref name=":2" />.
'''''TP53'' mutations''': High mutation rate was observed (91%) in low hypodiploid than in non-low hypodiploid (5%) B-ALL; In low hypodiploid ALL, 43% were observed in non-tumor hematopoietic cells, suggesting either an inherited or a germline ''de novo'' origin of the mutation<ref name=":2" />.




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|RTK or Ras signaling
|RTK or Ras signaling
|Constitutive activation of mitogenic and anti-apoptotic pathways, driving uncontrolled cell proliferation, survival, and malignant transformation
|Constitutive activation of mitogenic and anti-apoptotic pathways, driving uncontrolled cell proliferation, survival, and malignant transformation
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|''IKZF1, IKZF2, IKZF3, PAX5, EBF1, VPREB1''
|B-cell development
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|''CDKN2A/B, TP53, RB1''
|Cell cycle and apoptosis
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|''ETV6''
|Hematopoiesis
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|''PAG1''
|BCR signaling
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|''ARPP21''
|Calmodulin signaling
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|''SLX4IP''
|Telomere length maintenance
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|''CUL5''
|Ubiquitin pathway
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|''FAM53B''
|Wnt signaling
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|''PDS5B''
|Cohesis complex
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|''ANKRD11, DMD''
|Cell adhesion
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