Compendium of Cancer Genome Aberrations

HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1-like features: Difference between revisions

(View all pending changes)
[pending revision][pending revision]
← Older edit
VisualWikitext
mNo edit summary
 
(4 intermediate revisions by the same user not shown)
Line 12: Line 12:
==Primary Author(s)*==
==Primary Author(s)*==
Mark G. Evans, MD, Caris Life Sciences
Mark G. Evans, MD, Caris Life Sciences
Kilannin Krysiak, PhD, WashU Medicine


Sumire K. Kitahara, MD, Cedars-Sinai Medical Center
Sumire K. Kitahara, MD, Cedars-Sinai Medical Center
Line 64: Line 62:
|'''Comment'''
|'''Comment'''
|-
|-
| rowspan="12" |'''''[[ABL1]]'''''
| rowspan="12" |''[[ABL1]]''
(9q34)
(9q34)
|''CENPC1''
|''CENPC1''
Line 150: Line 148:
|
|
|-
|-
| rowspan="3" |'''''[[ABL2]]'''''
| rowspan="3" |''[[ABL2]]''
(1q25.2)
(1q25.2)
|''PAG1''
|''PAG1''
Line 173: Line 171:
|
|
|-
|-
| rowspan="2" |'''''[[CRLF2]]'''''
| rowspan="2" |''[[CRLF2]]''
(Xp22.3 & Yp11.3)
(Xp22.3 & Yp11.3)
|''[[IGH]]''
|''[[IGH]]''
Line 190: Line 188:
|
|
|-
|-
| rowspan="3" |'''''CSF1R'''''
| rowspan="3" |''CSF1R''
(5q32)
(5q32)
|''MEF2D''
|''MEF2D''
Line 213: Line 211:
|
|
|-
|-
|'''''DGKH''''' (13q14.1)
|''DGKH'' (13q14.1)
|''ZFAND3''
|''ZFAND3''
|t(6;13)(p21.2;q14.1)
|t(6;13)(p21.2;q14.1)
Line 221: Line 219:
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|-
| rowspan="4" |'''''EPOR''''' (19p13.2)
| rowspan="4" |''EPOR'' (19p13.2)
|''[[IGH]]''
|''[[IGH]]''
|ins(14;19)(q32;p13.2p13.2)
|ins(14;19)(q32;p13.2p13.2)
Line 250: Line 248:
|
|
|-
|-
|'''''IL2RB''''' (22q12.3)
|''IL2RB'' (22q12.3)
|''MYH9''
|''MYH9''
|22q12.3 rearrangement
|22q12.3 rearrangement
Line 258: Line 256:
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|-
| rowspan="22" |'''''[[JAK2]]'''''
| rowspan="22" |''[[JAK2]]''
(9p24.1)
(9p24.1)
|''ATF7IP''
|''ATF7IP''
Line 414: Line 412:
|
|
|-
|-
|'''''[[PDGFRA]]'''''
|''[[PDGFRA]]''
(4q12)
(4q12)
|''FIP1L1''
|''FIP1L1''
Line 423: Line 421:
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|-
| rowspan="8" |'''''[[PDGFRB]]''''' (5q32)
| rowspan="8" |''[[PDGFRB]]'' (5q32)
|''ATF7IP''
|''ATF7IP''
|t(5;12)(q32;p13.1)
|t(5;12)(q32;p13.1)
Line 480: Line 478:
|
|
|-
|-
| rowspan="3" |'''''PTK2B''''' (8p21.2)
| rowspan="3" |''PTK2B'' (8p21.2)
|''[[KDM6A]]''
|''[[KDM6A]]''
|t(X;8)(p11.3;p21.2)
|t(X;8)(p11.3;p21.2)
Line 502: Line 500:
|
|
|-
|-
| rowspan="3" |'''''TYK2''''' (19p13.2)
| rowspan="3" |''TYK2'' (19p13.2)
|''MYB''
|''MYB''
|t(6;19)(q23.3;p13.2)
|t(6;19)(q23.3;p13.2)
Line 667: Line 665:
|Unknown
|Unknown
|No
|No
|Half of cases with ''CRLF2'' overexpression have activating mutations in ''JAK1'' or ''JAK2'' that promote downstream JAK-STAT signaling;<ref name=":10" /> the  most common mutation, p.R683G, occurs in the pseudokinase domain of ''JAK2'', and less common ''JAK1'' alterations have been detected, which include p.V658F most frequently.
|Half of cases with ''CRLF2'' overexpression have activating mutations in ''JAK1'' or ''JAK2'' that promote downstream JAK-STAT signaling;<ref name=":10" /> the  most common mutation, p.R683G, occurs in the pseudokinase domain of ''JAK2'', and less common ''JAK1'' alterations have been detected, which include p.V658F most frequently; clinical trials examining the treatment effects of targeting JAK proteins are currently ongoing.<ref>{{Cite journal|last=Goulart|first=Hannah|last2=Jabbour|first2=Elias|last3=Short|first3=Nicholas J.|last4=Kadia|first4=Tapan M.|last5=Pemmaraju|first5=Naveen|last6=Takahashi|first6=Koichi|last7=Ravandi|first7=Farhad|last8=Konopleva|first8=Marina|last9=Jain|first9=Nitin|date=2025-11|title=A Phase I/II Trial of Ruxolitinib with Chemotherapy for Patients with Relapsed and/or Refractory Philadelphia-like Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/40500616|journal=Clinical Lymphoma, Myeloma & Leukemia|volume=25|issue=11|pages=800–807|doi=10.1016/j.clml.2025.05.013|issn=2152-2669|pmid=40500616}}</ref>
|-
|-
|''IL7R''
|''IL7R''
Line 679: Line 677:
|''SH2B3''
|''SH2B3''
''IL2RB''
''IL2RB''
''TYK2''
''TYK2''
''TLSP''
''TLSP''
|Activating mutations
|Activating mutations
Line 709: Line 709:
|These result in B-cell progenitor proliferation; may be responsive to TKIs.<ref>{{Cite journal|last=Senapati|first=Jayastu|last2=Jabbour|first2=Elias|last3=Konopleva|first3=Marina|last4=Short|first4=Nicholas J.|last5=Tang|first5=Guilin|last6=Daver|first6=Naval|last7=Kebriaei|first7=Partow|last8=Kadia|first8=Tapan|last9=Pemmaraju|first9=Naveen|date=2023-05|title=Philadelphia-Like Genetic Rearrangements in Adults With B-Cell ALL: Refractoriness to Chemotherapy and Response to Tyrosine Kinase Inhibitor in ABL Class Rearrangements|url=https://pubmed.ncbi.nlm.nih.gov/37196217|journal=JCO precision oncology|volume=7|pages=e2200707|doi=10.1200/PO.22.00707|issn=2473-4284|pmc=10309573|pmid=37196217}}</ref>
|These result in B-cell progenitor proliferation; may be responsive to TKIs.<ref>{{Cite journal|last=Senapati|first=Jayastu|last2=Jabbour|first2=Elias|last3=Konopleva|first3=Marina|last4=Short|first4=Nicholas J.|last5=Tang|first5=Guilin|last6=Daver|first6=Naval|last7=Kebriaei|first7=Partow|last8=Kadia|first8=Tapan|last9=Pemmaraju|first9=Naveen|date=2023-05|title=Philadelphia-Like Genetic Rearrangements in Adults With B-Cell ALL: Refractoriness to Chemotherapy and Response to Tyrosine Kinase Inhibitor in ABL Class Rearrangements|url=https://pubmed.ncbi.nlm.nih.gov/37196217|journal=JCO precision oncology|volume=7|pages=e2200707|doi=10.1200/PO.22.00707|issn=2473-4284|pmc=10309573|pmid=37196217}}</ref>
|-
|-
|''CRLF2'' overexpression; mutations of ''CRLF2'', ''JAK1'', ''IL7R, SH2B3, IL2RB, TYK2,'' and ''TLSP''; ''JAK2'' and ''EPOR'' rearrangements
|''CRLF2'' overexpression; mutations of ''CRLF2'', ''JAK1/2'', ''IL7R, SH2B3, IL2RB, TYK2,'' and ''TLSP''; ''JAK2'' and ''EPOR'' rearrangements
|JAK-STAT signaling
|JAK-STAT signaling
|These potentiate the JAK2-signal transducer and upregulate the transcription 5 pathway;<ref name=":8" /> other mutations not in ''CRLF2'' and ''IL7R'' cause constitutive JAK/STAT activation downstream of CRLF2.  
|These potentiate the JAK2-signal transducer and upregulate the transcription 5 pathway;<ref name=":8" /> other mutations not in ''CRLF2'' and ''IL7R'' cause constitutive JAK/STAT activation downstream of CRLF2.  
Retrieved from "https://test.ccga.io/index.php/HAEM5:B-lymphoblastic_leukaemia/lymphoma_with_BCR::ABL1-like_features"