HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions
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|No (NCCN) | |No (NCCN) | ||
|Chromosome abnormalities include whole chromosome loss, specifically one sex chromosome and often chromosomes 7, 9, and/or 13. Also detected are structural anomalies especially dicentric chromosomes involving chromosomes 7, 9 or 12. | |Chromosome abnormalities include whole chromosome loss, specifically one sex chromosome and often chromosomes 7, 9, and/or 13. Also detected are structural anomalies especially dicentric chromosomes involving chromosomes 7, 9 or 12. | ||
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</blockquote> | </blockquote> | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
Holmfeldt et al sequenced 124 cases of low-hypodiploid B-ALL and showed that more than two-thirds (70.6%) of near-haploid ALL cases harbored genetic alterations known or predicted to result in activation of RTK or Ras signaling, including deletion, amplification and/or sequence mutation of ''NF1'', ''NRAS'', ''KRAS'', ''MAPK1'', ''FLT3'' or ''PTPN11<ref name=":2" />''. | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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|- | |- | ||
|''FLT3'' | |''FLT3'' | ||
| | |Mutation<ref name=":2" /> | ||
|Oncogene | |Oncogene | ||
|Recurrent | |Recurrent | ||
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|- | |- | ||
|''NRAS'' | |''NRAS'' | ||
| | |Mutation<ref name=":2" /> | ||
|Oncogene | |Oncogene | ||
|Recurrent | |Recurrent | ||
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|- | |- | ||
|''IKZF2'' | |''IKZF2'' | ||
|Focal deletion<ref name=": | |Focal deletion. Alterations of ''IKZF2'' and ''IKZF3'' were biallelic as a result of aneuploidy<ref name=":2" />. | ||
|Tumor supressor | |Tumor supressor | ||
|Common | |Common | ||
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|''IKZF3'' | |''IKZF3'' | ||
<br /> | <br /> | ||
|Focal deletion<ref name=": | |Focal deletion and one frameshift mutation<ref name=":2" /> | ||
|Tumor supressor | |Tumor supressor | ||
|Recurrent | |Recurrent | ||
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|- | |- | ||
|''PAG1'' | |''PAG1'' | ||
|Focal deletion<ref name=":2" /> | |Focal deletion<ref name=":2" />. Most ''PAG1'' deletions were homozygous and involved the upstream region and first exon, leading to a complete loss of ''PAG1'' expression. | ||
|Tumor supressor | |Tumor supressor | ||
|Recurrent | |Recurrent | ||
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|''IKZF1, IKZF2, IKZF3, PAX5, EBF1, VPREB1'' | |''IKZF1, IKZF2, IKZF3, PAX5, EBF1, VPREB1'' | ||
|B-cell development | |B-cell development | ||
| | |Altered lymphoid development and differentiation. | ||
|- | |||
|''PAG1'' | |||
|BCR signaling | |||
|Altered regulatory function in proximal B cell–receptor signaling. | |||
|- | |- | ||
|''ETV6'' | |''ETV6'' | ||
|Hematopoiesis | |Hematopoiesis | ||
| | |Not fully elucidated in this entity | ||
|- | |- | ||
|''ARPP21'' | |''ARPP21'' | ||
|Calmodulin signaling | |Calmodulin signaling | ||
| | |Not fully elucidated in this entity | ||
|- | |- | ||
|''SLX4IP'' | |''SLX4IP'' | ||
|Telomere length maintenance | |Telomere length maintenance | ||
| | |Not fully elucidated in this entity | ||
|- | |- | ||
|''CUL5'' | |''CUL5'' | ||
|Ubiquitin pathway | |Ubiquitin pathway | ||
| | |Not fully elucidated in this entity | ||
|- | |- | ||
|''FAM53B'' | |''FAM53B'' | ||
|Wnt signaling | |Wnt signaling | ||
| | |Not fully elucidated in this entity | ||
|- | |- | ||
|''PDS5B'' | |''PDS5B'' | ||
|Cohesis complex | |Cohesis complex | ||
| | |Not fully elucidated in this entity | ||
|- | |- | ||
|''ANKRD11, DMD'' | |''ANKRD11, DMD'' | ||
|Cell adhesion | |Cell adhesion | ||
| | |Not fully elucidated in this entity | ||
|} | |} | ||