HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions
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|No established significance | |No established significance | ||
|No (NCCN) | |No (NCCN) | ||
|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. Accordingly, genetic counseling is recommended for children with low-hypodiploid B-ALL carrying ''TP53'' mutations, and their relatives<ref name=":17" />. | |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. Accordingly, genetic counseling is recommended for children with low-hypodiploid B-ALL carrying ''TP53'' mutations, and their relatives<ref name=":17" />. In contrast to childhood cases, ''TP53'' mutations in low-hypodiploid adult B-ALL are somatic, are not found in healthy hematopoietic cells, and not detectable in remission samples<ref name=":2" /><ref name=":6" />. | ||
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|''RB1'' | |''RB1'' | ||
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|''NF1, NRAS, KRAS, MAPK1, FLT3 or PTPN11''; Activating mutations<ref name=":2" /> | |''NF1, NRAS, KRAS, MAPK1, FLT3 or PTPN11''; Activating mutations<ref name=":2" /> | ||
|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'' | |''IKZF1, IKZF2, IKZF3, PAX5, EBF1, VPREB1'' | ||