HAEM5:T-prolymphocytic leukaemia: Difference between revisions
| [unchecked revision] | [unchecked revision] |
No edit summary |
|||
| Line 192: | Line 192: | ||
|Abnormality | |Abnormality | ||
|17p, 17q | |17p, 17q | ||
|17p13 | |||
| | | | ||
| | |Yes | ||
| | |Yes (resistance to therapy) | ||
| | | | ||
|- | |- | ||
| Line 203: | Line 203: | ||
del(22q) | del(22q) | ||
| | | | ||
22q11-12 <ref>{{Cite journal|last=Stengel|first=Anna|last2=Kern|first2=Wolfgang|last3=Zenger|first3=Melanie|last4=Perglerová|first4=Karolina|last5=Schnittger|first5=Susanne|last6=Haferlach|first6=Torsten|last7=Haferlach|first7=Claudia|date=2014-12-06|title=A Comprehensive Cytogenetic and Molecular Genetic Characterization of Patients with T-PLL Revealed Two Distinct Genetic Subgroups and JAK3 Mutations As an Important Prognostic Marker|url=https://doi.org/10.1182/blood.V124.21.1639.1639|journal=Blood|volume=124|issue=21|pages=1639–1639|doi=10.1182/blood.v124.21.1639.1639|issn=0006-4971}}</ref><ref name=":0">{{Cite journal|last=Fang|first=Hong|last2=Beird|first2=Hannah C.|last3=Wang|first3=Sa A.|last4=Ibrahim|first4=Andrew F.|last5=Tang|first5=Zhenya|last6=Tang|first6=Guilin|last7=You|first7=M. James|last8=Hu|first8=Shimin|last9=Xu|first9=Jie|date=2023-09|title=T-prolymphocytic leukemia: TCL1 or MTCP1 rearrangement is not mandatory to establish diagnosis|url=https://pubmed.ncbi.nlm.nih.gov/37443196|journal=Leukemia|volume=37|issue=9|pages=1919–1921|doi=10.1038/s41375-023-01956-3|issn=1476-5551|pmid=37443196}}</ref> | |||
(most common) | |||
| | | | ||
| | | | ||
| | | | ||
|Minor diagnostic criteria | |Leading to the dysregulation of genes such as BCL11B, which is crucial in T-cell development and function.<ref name=":0" /> | ||
Minor diagnostic criteria | |||
|} | |} | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
| Line 248: | Line 254: | ||
|TSG | |TSG | ||
|72% (COSMIC) | |72% (COSMIC) | ||
| | |JAK/STAT pathway | ||
| | |None specified | ||
| | |Unknown | ||
| | |Unknown | ||
| | |Unknown | ||
| | | | ||
|- | |- | ||
| Line 267: | Line 273: | ||
(COSMIC) | (COSMIC) | ||
| | | | ||
| | |Typically, mutations within this pathway occur in a mutually exclusive manner.<ref>{{Cite journal|last=Kiel|first=Mark J.|last2=Velusamy|first2=Thirunavukkarasu|last3=Rolland|first3=Delphine|last4=Sahasrabuddhe|first4=Anagh A.|last5=Chung|first5=Fuzon|last6=Bailey|first6=Nathanael G.|last7=Schrader|first7=Alexandra|last8=Li|first8=Bo|last9=Li|first9=Jun Z.|date=2014-08-28|title=Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24825865|journal=Blood|volume=124|issue=9|pages=1460–1472|doi=10.1182/blood-2014-03-559542|issn=1528-0020|pmc=4148768|pmid=24825865}}</ref> | ||
| | |Yes | ||
| | |Yes | ||
| | |Yes (resistance to therapy) | ||
|The cumulative prevalence of these mutations in T-PLL is approximately 60%. | |The cumulative prevalence of these mutations in T-PLL is approximately 60%. (Dr jaffe book) | ||
|- | |- | ||
|''EZH2'' | |''EZH2'' | ||