HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1-like features: Difference between revisions
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==Primary Author(s)*== | ==Primary Author(s)*== | ||
Mark G. Evans, MD, Caris Life Sciences | Mark G. Evans, MD, Caris Life Sciences | ||
Sumire K. Kitahara, MD, Cedars-Sinai Medical Center | Sumire K. Kitahara, MD, Cedars-Sinai Medical Center | ||
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|'''Comment''' | |'''Comment''' | ||
|- | |- | ||
| rowspan="12" | | | rowspan="12" |''[[ABL1]]'' | ||
(9q34) | (9q34) | ||
|''CENPC1'' | |''CENPC1'' | ||
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| | | | ||
|- | |- | ||
| rowspan="3" | | | rowspan="3" |''[[ABL2]]'' | ||
(1q25.2) | (1q25.2) | ||
|''PAG1'' | |''PAG1'' | ||
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| | | | ||
|- | |- | ||
| rowspan="2" | | | rowspan="2" |''[[CRLF2]]'' | ||
(Xp22.3 & Yp11.3) | (Xp22.3 & Yp11.3) | ||
|''[[IGH]]'' | |''[[IGH]]'' | ||
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| | | | ||
|- | |- | ||
| rowspan="3" | | | rowspan="3" |''CSF1R'' | ||
(5q32) | (5q32) | ||
|''MEF2D'' | |''MEF2D'' | ||
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| | | | ||
|- | |- | ||
| | |''DGKH'' (13q14.1) | ||
|''ZFAND3'' | |''ZFAND3'' | ||
|t(6;13)(p21.2;q14.1) | |t(6;13)(p21.2;q14.1) | ||
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|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" | | | rowspan="4" |''EPOR'' (19p13.2) | ||
|''[[IGH]]'' | |''[[IGH]]'' | ||
|ins(14;19)(q32;p13.2p13.2) | |ins(14;19)(q32;p13.2p13.2) | ||
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| | | | ||
|- | |- | ||
| | |''IL2RB'' (22q12.3) | ||
|''MYH9'' | |''MYH9'' | ||
|22q12.3 rearrangement | |22q12.3 rearrangement | ||
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|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" | | | rowspan="22" |''[[JAK2]]'' | ||
(9p24.1) | (9p24.1) | ||
|''ATF7IP'' | |''ATF7IP'' | ||
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| | | | ||
|- | |- | ||
| | |''[[PDGFRA]]'' | ||
(4q12) | (4q12) | ||
|''FIP1L1'' | |''FIP1L1'' | ||
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|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
| rowspan="8" | | | rowspan="8" |''[[PDGFRB]]'' (5q32) | ||
|''ATF7IP'' | |''ATF7IP'' | ||
|t(5;12)(q32;p13.1) | |t(5;12)(q32;p13.1) | ||
| Line 480: | Line 478: | ||
| | | | ||
|- | |- | ||
| rowspan="3" | | | 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" | | | rowspan="3" |''TYK2'' (19p13.2) | ||
|''MYB'' | |''MYB'' | ||
|t(6;19)(q23.3;p13.2) | |t(6;19)(q23.3;p13.2) | ||
| Line 679: | Line 677: | ||
|''SH2B3'' | |''SH2B3'' | ||
''IL2RB'' | ''IL2RB'' | ||
''TYK2'' | ''TYK2'' | ||
''TLSP'' | ''TLSP'' | ||
|Activating mutations | |Activating mutations | ||
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|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. | ||