HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions
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|Common (>90%) | |Common (>90%) | ||
|No established significance | |No established significance | ||
|No | |No (NCCN) | ||
|Approximately 50% of children with low-hypodiploid B-ALL/LBL carry germline ''TP53'' variants associated with Li–Fraumeni syndrome, an autosomal dominant disorder caused by ''TP53'' mutations. These alterations correlate with low-hypodiploid ALL (32–39 chromosomes) and poorer clinical outcomes<ref name=":2" />. | |Approximately 50% of children with low-hypodiploid B-ALL/LBL carry germline ''TP53'' variants associated with Li–Fraumeni syndrome, an autosomal dominant disorder caused by ''TP53'' mutations. These alterations correlate with low-hypodiploid ALL (32–39 chromosomes) and poorer clinical outcomes<ref name=":2" />. | ||
|- | |- | ||
|''RB1'' | |''RB1'' | ||
|Focal deletion and mutation<ref name=": | |Focal deletion and mutation<ref name=":16">{{Cite journal|last=Molina|first=Oscar|last2=Bataller|first2=Alex|last3=Thampi|first3=Namitha|last4=Ribera|first4=Jordi|last5=Granada|first5=Isabel|last6=Velasco|first6=Pablo|last7=Fuster|first7=José Luis|last8=Menéndez|first8=Pablo|date=2021-12-22|title=Near-Haploidy and Low-Hypodiploidy in B-Cell Acute Lymphoblastic Leukemia: When Less Is Too Much|url=https://pubmed.ncbi.nlm.nih.gov/35008193|journal=Cancers|volume=14|issue=1|pages=32|doi=10.3390/cancers14010032|issn=2072-6694|pmc=8750410|pmid=35008193}}</ref> | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Common | |Common | ||
|No established significance | |No established significance | ||
|No | |No (NCCN) | ||
|Associated with low-hypodiploid B-ALL | |Associated with low-hypodiploid B-ALL | ||
|- | |- | ||
|''IKZF2'' | |''IKZF2'' | ||
| | |Focal deletion<ref name=":16" /> | ||
|Transcription | |Transcription | ||
|Common | |Common | ||
|No established significance | |No established significance | ||
|No | |No (NCCN) | ||
|Associated with low-hypodiploid B-ALL | |Associated with low-hypodiploid B-ALL | ||
|- | |- | ||
|''IKZF3'' | |''IKZF3'' | ||
<br /> | <br /> | ||
| | |Focal deletion<ref name=":16" /> | ||
| | |Transcription | ||
| | |Recurrent | ||
| | |No established significance | ||
|No | |No (NCCN) | ||
|Associated with near-haploid B-ALL | |Associated with near-haploid B-ALL | ||
|- | |||
|''PAG1'' | |||
|Focal deletion | |||
|BCR signaling | |||
|Recurrent | |||
|No established significance | |||
|No (NCCN) | |||
|Associated with near-haploid B-ALL | |||
|- | |||
|''CDKN2A/B'' | |||
|Focal deletion | |||
|Cell cycle and apoptosis | |||
|Common | |||
|No established significance | |||
|No (NCCN) | |||
|Associated with near-haploid B-ALL and low-hypodiploid B-ALL | |||
|}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. | ||