HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1-like features: Difference between revisions
| [pending revision] | [pending revision] |
Mark.Evans (talk | contribs) m Intro |
Mark.Evans (talk | contribs) m more changes |
||
| Line 51: | Line 51: | ||
==Gene Rearrangements== | ==Gene Rearrangements== | ||
B-lymphoblastic leukaemia/lymphoma with ''BCR::ABL1''-like features traditionally required diagnosis by gene expression (GEX) profiling<ref name=":1" /><ref name=":0" /> and was found to exhibit a GEX profile similar to Philadelphia | B-lymphoblastic leukaemia/lymphoma with ''BCR::ABL1''-like features traditionally required diagnosis by gene expression (GEX) profiling<ref name=":1" /><ref name=":0" /> and was found to exhibit a GEX profile similar to Philadelphia chromosome-positive B-lymphoblastic leukaemia/lymphoma but lacking ''BCR::ABL1''. The WHO<ref>WHO Classification of Tumours Editorial Board. Hematolymphoid tumors. Lyon (France): International Agency for Research on Cancer; 2022. [cited 2025 NOV 05]. (WHO classification of tumors series, 5th ed.). Available from: https://tumourclassification.iarc.who.int.</ref> and ICC<ref>{{Cite journal|last=Campo|first=Elias|last2=Jaffe|first2=Elaine S.|last3=Cook|first3=James R.|last4=Quintanilla-Martinez|first4=Leticia|last5=Swerdlow|first5=Steven H.|last6=Anderson|first6=Kenneth C.|last7=Brousset|first7=Pierre|last8=Cerroni|first8=Lorenzo|last9=de Leval|first9=Laurence|date=2022-09-15|title=The International Consensus Classification of Mature Lymphoid Neoplasms: a report from the Clinical Advisory Committee|url=https://pubmed.ncbi.nlm.nih.gov/35653592|journal=Blood|volume=140|issue=11|pages=1229–1253|doi=10.1182/blood.2022015851|issn=1528-0020|pmc=9479027|pmid=35653592}}</ref> has recognized recurring, genomic alterations associated with the diagnosis of B-lymphoblastic leukaemia/lymphoma with ''BCR::ABL1''-like features, including ABL1-class rearrangements, JAK-STAT activating alterations, and others. Proper identification of this disease is important, as patients may respond to targeted therapies like tyrosine kinase inhibitors (TKIs)<ref name=":9" />; however, as most reports feature only single cases and limited series, consensus on the diagnostic/prognostic/therapeutic significance of the various genomic alterations has not been reached and is in the process of being established. | ||
| Line 68: | Line 68: | ||
|''CENPC1'' | |''CENPC1'' | ||
|t(4;9)(q13;q34) | |t(4;9)(q13;q34) | ||
|''CENPC1 | |''CENPC1::ABL1'' | ||
|YES | |YES | ||
|<ref name=":2">{{Cite journal|last=Reshmi|first=Shalini C.|last2=Harvey|first2=Richard C.|last3=Roberts|first3=Kathryn G.|last4=Stonerock|first4=Eileen|last5=Smith|first5=Amy|last6=Jenkins|first6=Heather|last7=Chen|first7=I.-Ming|last8=Valentine|first8=Marc|last9=Liu|first9=Yu|date=2017-06-22|title=Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group|url=https://pubmed.ncbi.nlm.nih.gov/28408464|journal=Blood|volume=129|issue=25|pages=3352–3361|doi=10.1182/blood-2016-12-758979|issn=1528-0020|pmc=5482101|pmid=28408464}}</ref> | |<ref name=":2">{{Cite journal|last=Reshmi|first=Shalini C.|last2=Harvey|first2=Richard C.|last3=Roberts|first3=Kathryn G.|last4=Stonerock|first4=Eileen|last5=Smith|first5=Amy|last6=Jenkins|first6=Heather|last7=Chen|first7=I.-Ming|last8=Valentine|first8=Marc|last9=Liu|first9=Yu|date=2017-06-22|title=Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group|url=https://pubmed.ncbi.nlm.nih.gov/28408464|journal=Blood|volume=129|issue=25|pages=3352–3361|doi=10.1182/blood-2016-12-758979|issn=1528-0020|pmc=5482101|pmid=28408464}}</ref> | ||
| Line 75: | Line 75: | ||
|''[[ETV6]]'' | |''[[ETV6]]'' | ||
|t(9;12)(q34;p13) | |t(9;12)(q34;p13) | ||
|''ETV6 | |''ETV6::ABL1'' | ||
|NO | |NO | ||
|<ref>{{Cite journal|last=Zaliova|first=Marketa|last2=Moorman|first2=Anthony V.|last3=Cazzaniga|first3=Giovanni|last4=Stanulla|first4=Martin|last5=Harvey|first5=Richard C.|last6=Roberts|first6=Kathryn G.|last7=Heatley|first7=Sue L.|last8=Loh|first8=Mignon L.|last9=Konopleva|first9=Marina|date=2016-09|title=Characterization of leukemias with ETV6-ABL1 fusion|url=https://pubmed.ncbi.nlm.nih.gov/27229714|journal=Haematologica|volume=101|issue=9|pages=1082–1093|doi=10.3324/haematol.2016.144345|issn=1592-8721|pmc=5060025|pmid=27229714}}</ref> | |<ref>{{Cite journal|last=Zaliova|first=Marketa|last2=Moorman|first2=Anthony V.|last3=Cazzaniga|first3=Giovanni|last4=Stanulla|first4=Martin|last5=Harvey|first5=Richard C.|last6=Roberts|first6=Kathryn G.|last7=Heatley|first7=Sue L.|last8=Loh|first8=Mignon L.|last9=Konopleva|first9=Marina|date=2016-09|title=Characterization of leukemias with ETV6-ABL1 fusion|url=https://pubmed.ncbi.nlm.nih.gov/27229714|journal=Haematologica|volume=101|issue=9|pages=1082–1093|doi=10.3324/haematol.2016.144345|issn=1592-8721|pmc=5060025|pmid=27229714}}</ref> | ||
| Line 82: | Line 82: | ||
|''[[FOXP1]]'' | |''[[FOXP1]]'' | ||
|t(3;9)(p13;q34) | |t(3;9)(p13;q34) | ||
|''FOXP1 | |''FOXP1::ABL1'' on der(3) | ||
|YES | |YES | ||
|<ref>{{Cite journal|last=Ernst|first=Thomas|last2=Score|first2=Joannah|last3=Deininger|first3=Michael|last4=Hidalgo-Curtis|first4=Claire|last5=Lackie|first5=Peter|last6=Ershler|first6=William B.|last7=Goldman|first7=John M.|last8=Cross|first8=Nicholas C. P.|last9=Grand|first9=Francish|date=2011-04|title=Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/21391972|journal=British Journal of Haematology|volume=153|issue=1|pages=43–46|doi=10.1111/j.1365-2141.2010.08457.x|issn=1365-2141|pmid=21391972}}</ref> | |<ref>{{Cite journal|last=Ernst|first=Thomas|last2=Score|first2=Joannah|last3=Deininger|first3=Michael|last4=Hidalgo-Curtis|first4=Claire|last5=Lackie|first5=Peter|last6=Ershler|first6=William B.|last7=Goldman|first7=John M.|last8=Cross|first8=Nicholas C. P.|last9=Grand|first9=Francish|date=2011-04|title=Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/21391972|journal=British Journal of Haematology|volume=153|issue=1|pages=43–46|doi=10.1111/j.1365-2141.2010.08457.x|issn=1365-2141|pmid=21391972}}</ref> | ||
| Line 89: | Line 89: | ||
|''LSM14A'' | |''LSM14A'' | ||
|t(9;19)(q34;q13.1) | |t(9;19)(q34;q13.1) | ||
|''LSM14A | |''LSM14A::ABL1'' on der(19) | ||
|YES | |YES | ||
|<ref name=":2" /> | |<ref name=":2" /> | ||
| Line 96: | Line 96: | ||
|''NUP153'' | |''NUP153'' | ||
|t(6;9)(p22.3;q34) | |t(6;9)(p22.3;q34) | ||
|''NUP153 | |''NUP153::ABL1'' on der(6) | ||
|YES | |YES | ||
|<ref name=":2" /> | |<ref name=":2" /> | ||
| Line 103: | Line 103: | ||
|''[[NUP214]]'' | |''[[NUP214]]'' | ||
|dup(9)(q34.1q34.1) | |dup(9)(q34.1q34.1) | ||
|''NUP214 | |''NUP214::ABL1'' | ||
|NO | |NO | ||
|<ref>{{Cite journal|last=Duployez|first=Nicolas|last2=Grzych|first2=Guillaume|last3=Ducourneau|first3=Benoît|last4=Alarcon Fuentes|first4=Martin|last5=Grardel|first5=Nathalie|last6=Boyer|first6=Thomas|last7=Abou Chahla|first7=Wadih|last8=Bruno|first8=Bénédicte|last9=Nelken|first9=Brigitte|date=2016-04|title=NUP214-ABL1 fusion defines a rare subtype of B-cell precursor acute lymphoblastic leukemia that could benefit from tyrosine kinase inhibitors|url=https://pubmed.ncbi.nlm.nih.gov/26681761|journal=Haematologica|volume=101|issue=4|pages=e133–134|doi=10.3324/haematol.2015.136499|issn=1592-8721|pmc=5004396|pmid=26681761}}</ref> | |<ref>{{Cite journal|last=Duployez|first=Nicolas|last2=Grzych|first2=Guillaume|last3=Ducourneau|first3=Benoît|last4=Alarcon Fuentes|first4=Martin|last5=Grardel|first5=Nathalie|last6=Boyer|first6=Thomas|last7=Abou Chahla|first7=Wadih|last8=Bruno|first8=Bénédicte|last9=Nelken|first9=Brigitte|date=2016-04|title=NUP214-ABL1 fusion defines a rare subtype of B-cell precursor acute lymphoblastic leukemia that could benefit from tyrosine kinase inhibitors|url=https://pubmed.ncbi.nlm.nih.gov/26681761|journal=Haematologica|volume=101|issue=4|pages=e133–134|doi=10.3324/haematol.2015.136499|issn=1592-8721|pmc=5004396|pmid=26681761}}</ref> | ||
| Line 110: | Line 110: | ||
|''RANBP2'' | |''RANBP2'' | ||
|t(2;9)(q12.3;q34) | |t(2;9)(q12.3;q34) | ||
|''RANBP | |''RANBP::ABL1'' on der(2) | ||
|YES | |YES | ||
|<ref name=":9">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Li|first2=Yongjin|last3=Payne-Turner|first3=Debbie|last4=Harvey|first4=Richard C.|last5=Yang|first5=Yung-Li|last6=Pei|first6=Deqing|last7=McCastlain|first7=Kelly|last8=Ding|first8=Li|last9=Lu|first9=Charles|date=2014-09-11|title=Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25207766|journal=The New England Journal of Medicine|volume=371|issue=11|pages=1005–1015|doi=10.1056/NEJMoa1403088|issn=1533-4406|pmc=4191900|pmid=25207766}}</ref> | |<ref name=":9">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Li|first2=Yongjin|last3=Payne-Turner|first3=Debbie|last4=Harvey|first4=Richard C.|last5=Yang|first5=Yung-Li|last6=Pei|first6=Deqing|last7=McCastlain|first7=Kelly|last8=Ding|first8=Li|last9=Lu|first9=Charles|date=2014-09-11|title=Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25207766|journal=The New England Journal of Medicine|volume=371|issue=11|pages=1005–1015|doi=10.1056/NEJMoa1403088|issn=1533-4406|pmc=4191900|pmid=25207766}}</ref> | ||
| Line 117: | Line 117: | ||
|''RCSD1'' | |''RCSD1'' | ||
|t(1;9)(q24.2;q34) | |t(1;9)(q24.2;q34) | ||
|''RCSD1 | |''RCSD1::ABL1'' on der(1) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Collette|first=Y.|last2=Prébet|first2=T.|last3=Goubard|first3=A.|last4=Adélaïde|first4=J.|last5=Castellano|first5=R.|last6=Carbuccia|first6=N.|last7=Garnier|first7=S.|last8=Guille|first8=A.|last9=Arnoulet|first9=C.|date=2015-03-13|title=Drug response profiling can predict response to ponatinib in a patient with t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25768406|journal=Blood Cancer Journal|volume=5|issue=3|pages=e292|doi=10.1038/bcj.2015.13|issn=2044-5385|pmc=4382656|pmid=25768406}}</ref> | ||
| | | | ||
|- | |- | ||
|''SFPQ'' | |''SFPQ'' | ||
|t(1;9)(p34.3;q34) | |t(1;9)(p34.3;q34) | ||
|''SFPQ | |''SFPQ::ABL1'' on der(1) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Sheng|first=Guangying|last2=Zeng|first2=Zhao|last3=Pan|first3=Jinlan|last4=Wang|first4=Qinrong|last5=Yao|first5=Hong|last6=Wen|first6=Lijun|last7=Ma|first7=Liang|last8=Wu|first8=Depei|last9=Chen|first9=Suning|date=2017|title=t(1;9)(p34;q34)/SFPQ-ABL1 Fusion in a Patient with Ph-Like Common B-Cell Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/27894117|journal=Acta Haematologica|volume=137|issue=1|pages=40–43|doi=10.1159/000452265|issn=1421-9662|pmid=27894117}}</ref> | ||
| | | | ||
|- | |- | ||
|''SNX1'' | |''SNX1'' | ||
|t(9;15)(q34;q22.3) | |t(9;15)(q34;q22.3) | ||
|''SNX1 | |''SNX1::ABL1'' on der(15) | ||
|YES | |YES | ||
| | |<ref name=":10">{{Cite journal|last=Tasian|first=Sarah K.|last2=Loh|first2=Mignon L.|last3=Hunger|first3=Stephen P.|date=2017-11-09|title=Philadelphia chromosome-like acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/28972016|journal=Blood|volume=130|issue=19|pages=2064–2072|doi=10.1182/blood-2017-06-743252|issn=1528-0020|pmc=5680607|pmid=28972016}}</ref> | ||
| | | | ||
|- | |- | ||
|''SNX2'' | |''SNX2'' | ||
|t(5;9)(q23.2;q34) | |t(5;9)(q23.2;q34) | ||
|''SNX2 | |''SNX2::ABL1'' on der(5) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Tomita|first=Osamu|last2=Iijima|first2=Kazutoshi|last3=Ishibashi|first3=Takeshi|last4=Osumi|first4=Tomoo|last5=Kobayashi|first5=Kenichiro|last6=Okita|first6=Hajime|last7=Saito|first7=Masahiro|last8=Mori|first8=Tetsuya|last9=Shimizu|first9=Toshiaki|date=2014-03|title=Sensitivity of SNX2-ABL1 toward tyrosine kinase inhibitors distinct from that of BCR-ABL1|url=https://pubmed.ncbi.nlm.nih.gov/24367893|journal=Leukemia Research|volume=38|issue=3|pages=361–370|doi=10.1016/j.leukres.2013.11.017|issn=1873-5835|pmid=24367893}}</ref> | ||
| | | | ||
|- | |- | ||
|''ZMIZ1'' | |''ZMIZ1'' | ||
|t(9;10)(q34;q22.3) | |t(9;10)(q34;q22.3) | ||
|''ZMIZ1 | |''ZMIZ1::ABL1'' on der(10) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Soler|first=G.|last2=Radford-Weiss|first2=I.|last3=Ben-Abdelali|first3=R.|last4=Mahlaoui|first4=N.|last5=Ponceau|first5=J. F.|last6=Macintyre|first6=E. A.|last7=Vekemans|first7=M.|last8=Bernard|first8=O. A.|last9=Romana|first9=S. P.|date=2008-06|title=Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation|url=https://pubmed.ncbi.nlm.nih.gov/18007576|journal=Leukemia|volume=22|issue=6|pages=1278–1280|doi=10.1038/sj.leu.2405033|issn=1476-5551|pmid=18007576}}</ref> | ||
| | | | ||
|- | |- | ||
| Line 154: | Line 154: | ||
|''PAG1'' | |''PAG1'' | ||
|t(1;8)(q25.2;q21.1) | |t(1;8)(q25.2;q21.1) | ||
|''PAG1 | |''PAG1::ABL2'' on der(1) | ||
|YES | |YES | ||
| | |<ref name=":9" /> | ||
| | | | ||
|- | |- | ||
|''RCSD1'' | |''RCSD1'' | ||
|1q24.2q25.2 rearrangement | |1q24.2q25.2 rearrangement | ||
|''RCSD1 | |''RCSD1::ABL2'' | ||
|NO | |NO | ||
| | |<ref>{{Cite journal|last=Raca|first=Gordana|last2=Gurbuxani|first2=Sandeep|last3=Zhang|first3=Zhiyu|last4=Li|first4=Zejuan|last5=Sukhanova|first5=Madina|last6=McNeer|first6=Jennifer|last7=Stock|first7=Wendy|date=2015-04|title=RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25098428|journal=Leukemia & Lymphoma|volume=56|issue=4|pages=1145–1147|doi=10.3109/10428194.2014.951851|issn=1029-2403|pmid=25098428}}</ref> | ||
|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 | ||
|- | |- | ||
|''ZC3HAV1'' | |''ZC3HAV1'' | ||
|t(1;7)(q25.2;q34) | |t(1;7)(q25.2;q34) | ||
|''ZC3HAV1 | |''ZC3HAV1::ABL2'' on der(1) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Tran|first=Thai Hoa|last2=Harris|first2=Marian H.|last3=Nguyen|first3=Jonathan V.|last4=Blonquist|first4=Traci M.|last5=Stevenson|first5=Kristen E.|last6=Stonerock|first6=Eileen|last7=Asselin|first7=Barbara L.|last8=Athale|first8=Uma H.|last9=Clavell|first9=Luis A.|date=2018-03-13|title=Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29507076|journal=Blood Advances|volume=2|issue=5|pages=529–533|doi=10.1182/bloodadvances.2017014704|issn=2473-9537|pmc=5851421|pmid=29507076}}</ref> | ||
| | | | ||
|- | |- | ||
| Line 178: | Line 178: | ||
|t(X;14)(p22.3;q32) or | |t(X;14)(p22.3;q32) or | ||
t(Y;14)(p11.3;q32) | t(Y;14)(p11.3;q32) | ||
|''IGH | |''IGH::CRLF2'' | ||
|NO | |NO | ||
| | |<ref name=":11">{{Cite journal|last=Jain|first=Nitin|last2=Roberts|first2=Kathryn G.|last3=Jabbour|first3=Elias|last4=Patel|first4=Keyur|last5=Eterovic|first5=Agda Karina|last6=Chen|first6=Ken|last7=Zweidler-McKay|first7=Patrick|last8=Lu|first8=Xinyan|last9=Fawcett|first9=Gloria|date=2017-02-02|title=Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults|url=https://pubmed.ncbi.nlm.nih.gov/27919910|journal=Blood|volume=129|issue=5|pages=572–581|doi=10.1182/blood-2016-07-726588|issn=1528-0020|pmc=5290985|pmid=27919910}}</ref><ref name=":9" /> | ||
| | | | ||
|- | |- | ||
|''P2RY8'' | |''P2RY8'' | ||
|del(X)(p22.3p22.3) or del(Y)(p11.3p11.3) | |del(X)(p22.3p22.3) or del(Y)(p11.3p11.3) | ||
|''P2RY8 | |''P2RY8::CRLF2'' | ||
|NO | |NO | ||
| | |<ref name=":11" /><ref name=":9" /> | ||
| | | | ||
|- | |- | ||
| Line 194: | Line 194: | ||
|''MEF2D'' | |''MEF2D'' | ||
|t(1;5)(q22;q32) | |t(1;5)(q22;q32) | ||
|''MEF2D | |''MEF2D::CSF1R'' on der(5) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Gu|first=Zhaohui|last2=Churchman|first2=Michelle|last3=Roberts|first3=Kathryn|last4=Li|first4=Yongjin|last5=Liu|first5=Yu|last6=Harvey|first6=Richard C.|last7=McCastlain|first7=Kelly|last8=Reshmi|first8=Shalini C.|last9=Payne-Turner|first9=Debbie|date=2016-11-08|title=Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/27824051|journal=Nature Communications|volume=7|pages=13331|doi=10.1038/ncomms13331|issn=2041-1723|pmc=5105166|pmid=27824051}}</ref> | ||
| | | | ||
|- | |- | ||
|''SSBP2'' | |''SSBP2'' | ||
|5q14.1q32 rearrangement | |5q14.1q32 rearrangement | ||
|''SSBP2 | |''SSBP2::CSF1R'' | ||
|YES | |YES | ||
| | |<ref name=":2" /> | ||
|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 | ||
|- | |- | ||
|''TBL1XR1'' | |''TBL1XR1'' | ||
|t(3;5)(q26.3;q32) | |t(3;5)(q26.3;q32) | ||
|''TBL1XR1 | |''TBL1XR1::CSF1R'' on der(5) | ||
|YES | |YES | ||
| | |<ref name=":2" /> | ||
| | | | ||
|- | |- | ||
| Line 216: | Line 216: | ||
|''ZFAND3'' | |''ZFAND3'' | ||
|t(6;13)(p21.2;q14.1) | |t(6;13)(p21.2;q14.1) | ||
|''ZFAND3 | |''ZFAND3::DGKH'' | ||
|YES | |YES | ||
| | |<ref name=":9" /> | ||
|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 | ||
|- | |- | ||
| Line 226: | Line 226: | ||
|''IGH/EPOR'' | |''IGH/EPOR'' | ||
|Cryptic insertion | |Cryptic insertion | ||
| | |<ref name=":12">{{Cite journal|last=Iacobucci|first=Ilaria|last2=Li|first2=Yongjin|last3=Roberts|first3=Kathryn G.|last4=Dobson|first4=Stephanie M.|last5=Kim|first5=Jaeseung C.|last6=Payne-Turner|first6=Debbie|last7=Harvey|first7=Richard C.|last8=Valentine|first8=Marcus|last9=McCastlain|first9=Kelly|date=2016-02-08|title=Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/26859458|journal=Cancer Cell|volume=29|issue=2|pages=186–200|doi=10.1016/j.ccell.2015.12.013|issn=1878-3686|pmc=4750652|pmid=26859458}}</ref> | ||
| | | | ||
|- | |- | ||
| Line 233: | Line 233: | ||
|''IGK/EPOR'' | |''IGK/EPOR'' | ||
|Cryptic insertion | |Cryptic insertion | ||
| | |<ref name=":12" /> | ||
| | | | ||
|- | |- | ||
|''LAIR1'' | |''LAIR1'' | ||
|inv(19)(p13.2q13.42) | |inv(19)(p13.2q13.42) | ||
|''LAIR1 | |''LAIR1::EPOR'' | ||
|NO | |NO | ||
| | |<ref name=":12" /> | ||
|Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1'' | |Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1'' | ||
|- | |- | ||
|''THADA'' | |''THADA'' | ||
|t(2;19)(p21;p13.2) | |t(2;19)(p21;p13.2) | ||
|''THADA | |''THADA::EPOR'' | ||
|YES | |YES | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
| Line 253: | Line 253: | ||
|''MYH9'' | |''MYH9'' | ||
|22q12.3 rearrangement | |22q12.3 rearrangement | ||
|''MYH9 | |''MYH9::IL2RB'' | ||
|NO | |NO | ||
| | |<ref name=":9" /> | ||
|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 | ||
|- | |- | ||
| Line 262: | Line 262: | ||
|''ATF7IP'' | |''ATF7IP'' | ||
|t(9;12)(p24.1;p13.1) | |t(9;12)(p24.1;p13.1) | ||
|''ATF7IP | |''ATF7IP::JAK2'' on der(9) | ||
|NO | |NO | ||
| | |<ref name=":9" /><ref>{{Cite journal|last=Zhang|first=Qi|last2=Shi|first2=Ce|last3=Han|first3=Lina|last4=Jain|first4=Nitin|last5=Roberts|first5=Kathryn G.|last6=Ma|first6=Helen|last7=Cai|first7=Tianyu|last8=Cavazos|first8=Antonio|last9=Tabe|first9=Yoko|date=2018-01-30|title=Inhibition of mTORC1/C2 signaling improves anti-leukemia efficacy of JAK/STAT blockade in CRLF2 rearranged and/or JAK driven Philadelphia chromosome-like acute B-cell lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29487712|journal=Oncotarget|volume=9|issue=8|pages=8027–8041|doi=10.18632/oncotarget.24261|issn=1949-2553|pmc=5814279|pmid=29487712}}</ref> | ||
| | | | ||
|- | |- | ||
|''[[BCR]]'' | |''[[BCR]]'' | ||
|t(9;22)(p24.1;q11.2) | |t(9;22)(p24.1;q11.2) | ||
|''BCR | |''BCR::JAK2'' | ||
|? YES | |? YES | ||
| | |<ref>{{Cite journal|last=Griesinger|first=Frank|last2=Hennig|first2=Heike|last3=Hillmer|first3=Frauke|last4=Podleschny|first4=Martina|last5=Steffens|first5=Rainer|last6=Pies|first6=Andreas|last7=Wörmann|first7=Bernhard|last8=Haase|first8=Detlef|last9=Bohlander|first9=Stefan K.|date=2005-11|title=A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia|url=https://pubmed.ncbi.nlm.nih.gov/16001431|journal=Genes, Chromosomes & Cancer|volume=44|issue=3|pages=329–333|doi=10.1002/gcc.20235|issn=1045-2257|pmid=16001431}}</ref> | ||
|Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
|''EBF1'' | |''EBF1'' | ||
|t(5;9)(q33.3;p24.1) | |t(5;9)(q33.3;p24.1) | ||
|''EBF1 | |''EBF1::JAK2'' on der(9) | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| | |<ref name=":13">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Yang|first2=Yung-Li|last3=Payne-Turner|first3=Debbie|last4=Lin|first4=Wenwei|last5=Files|first5=Jacob K.|last6=Dickerson|first6=Kirsten|last7=Gu|first7=Zhaohui|last8=Taunton|first8=Jack|last9=Janke|first9=Laura J.|date=2017-09-12|title=Oncogenic role and therapeutic targeting of ABL-class and JAK-STAT activating kinase alterations in Ph-like ALL|url=https://pubmed.ncbi.nlm.nih.gov/29296813|journal=Blood Advances|volume=1|issue=20|pages=1657–1671|doi=10.1182/bloodadvances.2017011296|issn=2473-9529|pmc=5728345|pmid=29296813}}</ref> | ||
| | | | ||
|- | |- | ||
|''[[ETV6]]'' | |''[[ETV6]]'' | ||
|t(9;12)(p24.1;p13.2) | |t(9;12)(p24.1;p13.2) | ||
|''ETV6 | |''ETV6::JAK2'' on der(9) | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| | |<ref>{{Cite journal|last=Zhou|first=Min-hang|last2=Gao|first2=Li|last3=Jing|first3=Yu|last4=Xu|first4=Yuan-yuan|last5=Ding|first5=Yi|last6=Wang|first6=Nan|last7=Wang|first7=Wei|last8=Li|first8=Mian-yang|last9=Han|first9=Xiao-ping|date=2012-08|title=Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22373549|journal=Annals of Hematology|volume=91|issue=8|pages=1235–1243|doi=10.1007/s00277-012-1431-4|issn=1432-0584|pmid=22373549}}</ref><ref>{{Cite journal|last=Schwaller|first=Jurg|date=2012-12|title=Modeling ETV6-JAK2-induced leukemia: insights from the zebrafish|url=https://pubmed.ncbi.nlm.nih.gov/23204479|journal=Haematologica|volume=97|issue=12|pages=1783–1785|doi=10.3324/haematol.2012.080754|issn=1592-8721|pmc=3590083|pmid=23204479}}</ref> | ||
| | | | ||
|- | |- | ||
|''GOLGA5'' | |''GOLGA5'' | ||
|t(9;14)(p24.1;q32.1) | |t(9;14)(p24.1;q32.1) | ||
|''GOLGA5 | |''GOLGA5::JAK2'' | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| | |<ref>{{Cite journal|last=Ding|first=Yang Y.|last2=Stern|first2=Julie W.|last3=Jubelirer|first3=Tracey F.|last4=Wertheim|first4=Gerald B.|last5=Lin|first5=Fumin|last6=Chang|first6=Fengqi|last7=Gu|first7=Zhaohui|last8=Mullighan|first8=Charles G.|last9=Li|first9=Yong|date=2018-09|title=Clinical efficacy of ruxolitinib and chemotherapy in a child with Philadelphia chromosome-like acute lymphoblastic leukemia with GOLGA5-JAK2 fusion and induction failure|url=https://pubmed.ncbi.nlm.nih.gov/29773603|journal=Haematologica|volume=103|issue=9|pages=e427–e431|doi=10.3324/haematol.2018.192088|issn=1592-8721|pmc=6119161|pmid=29773603}}</ref> | ||
|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 | ||
|- | |- | ||
|''HMBOX1'' | |''HMBOX1'' | ||
|t(8;9)(p21.1;p24.1) | |t(8;9)(p21.1;p24.1) | ||
|''HMBOX1 | |''HMBOX1::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref name=":14">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Gu|first2=Zhaohui|last3=Payne-Turner|first3=Debbie|last4=McCastlain|first4=Kelly|last5=Harvey|first5=Richard C.|last6=Chen|first6=I.-Ming|last7=Pei|first7=Deqing|last8=Iacobucci|first8=Ilaria|last9=Valentine|first9=Marcus|date=2017-02|title=High Frequency and Poor Outcome of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia in Adults|url=https://pubmed.ncbi.nlm.nih.gov/27870571|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=35|issue=4|pages=394–401|doi=10.1200/JCO.2016.69.0073|issn=1527-7755|pmc=5455698|pmid=27870571}}</ref> | ||
| | | | ||
|- | |- | ||
|''OFD1'' | |''OFD1'' | ||
|t(X;9)(p22.2;p24.1) | |t(X;9)(p22.2;p24.1) | ||
|''OFD1 | |''OFD1::JAK2'' on der(9) | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| | |<ref>{{Cite journal|last=Yano|first=Mio|last2=Imamura|first2=Toshihiko|last3=Asai|first3=Daisuke|last4=Kiyokawa|first4=Nobutaka|last5=Nakabayashi|first5=Kazuhiko|last6=Matsumoto|first6=Kenji|last7=Deguchi|first7=Takao|last8=Hashii|first8=Yoshiko|last9=Honda|first9=Yu-ko|date=2015-12|title=Identification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion|url=https://pubmed.ncbi.nlm.nih.gov/26404892|journal=British Journal of Haematology|volume=171|issue=5|pages=813–817|doi=10.1111/bjh.13757|issn=1365-2141|pmid=26404892}}</ref> | ||
| | | | ||
|- | |- | ||
|''PAX5'' | |''PAX5'' | ||
|inv(9)(p13.2p24.1) | |inv(9)(p13.2p24.1) | ||
|''PAX5 | |''PAX5::JAK2'' | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Schinnerl|first=Dagmar|last2=Fortschegger|first2=Klaus|last3=Kauer|first3=Maximilian|last4=Marchante|first4=João R. M.|last5=Kofler|first5=Reinhard|last6=Den Boer|first6=Monique L.|last7=Strehl|first7=Sabine|date=2015-02-19|title=The role of the Janus-faced transcription factor PAX5-JAK2 in acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25515960|journal=Blood|volume=125|issue=8|pages=1282–1291|doi=10.1182/blood-2014-04-570960|issn=1528-0020|pmc=4375719|pmid=25515960}}</ref> | ||
|An inversion is required as genes are oriented in opposite directions | |An inversion is required as genes are oriented in opposite directions | ||
|- | |- | ||
|''[[PCM1]]'' | |''[[PCM1]]'' | ||
|t(8;9)(p22;p24.1) | |t(8;9)(p22;p24.1) | ||
|''PCM1 | |''PCM1::JAK2'' on der(9) | ||
|YES (SUBTLE) | |YES (SUBTLE) | ||
| | |<ref name=":10" /> | ||
|Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
|''PPFIBP1'' | |''PPFIBP1'' | ||
|t(9;12)(p24.1;p11.2) | |t(9;12)(p24.1;p11.2) | ||
|''PPFIBP1 | |''PPFIBP1::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
|''RFX3'' | |''RFX3'' | ||
|inv(9)(p24.1p24.2) | |inv(9)(p24.1p24.2) | ||
|''RFX3 | |''RFX3::JAK2'' | ||
|NO | |NO | ||
| | |<ref name=":2" /> | ||
|An inversion is required as genes are oriented in opposite directions | |An inversion is required as genes are oriented in opposite directions | ||
|- | |- | ||
|''SMU1'' | |''SMU1'' | ||
|inv(9)(p21.1p24.1) | |inv(9)(p21.1p24.1) | ||
|''SMU1 | |''SMU1::JAK2'' | ||
|NO | |NO | ||
| | |<ref name=":14" /> | ||
|An inversion is required as genes are oriented in opposite directions | |An inversion is required as genes are oriented in opposite directions | ||
|- | |- | ||
|''SNX29'' | |''SNX29'' | ||
|t(9;16)(p24.1;p13.1) | |t(9;16)(p24.1;p13.1) | ||
|''SNX29 | |''SNX29::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref name=":14" /> | ||
| | | | ||
|- | |- | ||
|''SPAG9'' | |''SPAG9'' | ||
|t(9;17)(p24.1;q21.3) | |t(9;17)(p24.1;q21.3) | ||
|''SPAG9 | |''SPAG9::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Kawamura|first=Machiko|last2=Taki|first2=Tomohiko|last3=Kaku|first3=Hidefumi|last4=Ohki|first4=Kentaro|last5=Hayashi|first5=Yasuhide|date=2015-07|title=Identification of SPAG9 as a novel JAK2 fusion partner gene in pediatric acute lymphoblastic leukemia with t(9;17)(p24;q21)|url=https://pubmed.ncbi.nlm.nih.gov/25951811|journal=Genes, Chromosomes & Cancer|volume=54|issue=7|pages=401–408|doi=10.1002/gcc.22251|issn=1098-2264|pmid=25951811}}</ref> | ||
| | | | ||
|- | |- | ||
|''SSBP2'' | |''SSBP2'' | ||
|t(5;9)(q14.1;p24.1) | |t(5;9)(q14.1;p24.1) | ||
|''SSBP2 | |''SSBP2::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Poitras|first=Jennifer L.|last2=Dal Cin|first2=Paola|last3=Aster|first3=Jon C.|last4=Deangelo|first4=Daniel J.|last5=Morton|first5=Cynthia C.|date=2008-10|title=Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/18618714|journal=Genes, Chromosomes & Cancer|volume=47|issue=10|pages=884–889|doi=10.1002/gcc.20585|issn=1098-2264|pmid=18618714}}</ref> | ||
| | | | ||
|- | |- | ||
|''STRN3'' | |''STRN3'' | ||
|t(9;14)(p24.1;q12) | |t(9;14)(p24.1;q12) | ||
|''STRN3 | |''STRN3::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Roberts|first=Kathryn G.|last2=Morin|first2=Ryan D.|last3=Zhang|first3=Jinghui|last4=Hirst|first4=Martin|last5=Zhao|first5=Yongjun|last6=Su|first6=Xiaoping|last7=Chen|first7=Shann-Ching|last8=Payne-Turner|first8=Debbie|last9=Churchman|first9=Michelle L.|date=2012-08-14|title=Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22897847|journal=Cancer Cell|volume=22|issue=2|pages=153–166|doi=10.1016/j.ccr.2012.06.005|issn=1878-3686|pmc=3422513|pmid=22897847}}</ref> | ||
| | | | ||
|- | |- | ||
|''TERF2'' | |''TERF2'' | ||
|t(9;16)(p24.1;q22.1) | |t(9;16)(p24.1;q22.1) | ||
|''TERF2 | |''TERF2::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Steeghs|first=Elisabeth M. P.|last2=Jerchel|first2=Isabel S.|last3=de Goffau-Nobel|first3=Willemieke|last4=Hoogkamer|first4=Alex Q.|last5=Boer|first5=Judith M.|last6=Boeree|first6=Aurélie|last7=van de Ven|first7=Cesca|last8=Koudijs|first8=Marco J.|last9=Besselink|first9=Nicolle J. M.|date=2017-10-27|title=JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29163799|journal=Oncotarget|volume=8|issue=52|pages=89923–89938|doi=10.18632/oncotarget.21027|issn=1949-2553|pmc=5685720|pmid=29163799}}</ref> | ||
| | | | ||
|- | |- | ||
|''TPR'' | |''TPR'' | ||
|t(1;9)(q31.1;p24.1) | |t(1;9)(q31.1;p24.1) | ||
|''TPR | |''TPR::JAK2'' on der(9) | ||
|YES | |YES | ||
| | |<ref name=":9" /> | ||
| | | | ||
|- | |- | ||
|''USP25'' | |''USP25'' | ||
|t(9;21)(p24.1;q21.1) | |t(9;21)(p24.1;q21.1) | ||
|''USP25 | |''USP25::JAK2'' | ||
|? YES | |? YES | ||
| | |<ref name=":2" /> | ||
|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 | ||
|- | |- | ||
|''ZBTB46'' | |''ZBTB46'' | ||
|t(9;20)(p24.1;q13.3) | |t(9;20)(p24.1;q13.3) | ||
|''ZBTB46 | |''ZBTB46::JAK2'' on der(9) | ||
|NO | |NO | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
|''ZNF274'' | |''ZNF274'' | ||
|t(9;19)(p24.1;q13.4) | |t(9;19)(p24.1;q13.4) | ||
|''ZNF274 | |''ZNF274::JAK2'' | ||
|NO | |NO | ||
| | |<ref name=":2" /> | ||
|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 | ||
|- | |- | ||
|''ZNF340'' | |''ZNF340'' | ||
|t(9;20)(p24.1;q13.3) | |t(9;20)(p24.1;q13.3) | ||
|''ZNF340 | |''ZNF340::JAK2'' on der(9) | ||
|NO | |NO | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
| Line 418: | Line 418: | ||
|''FIP1L1'' | |''FIP1L1'' | ||
|del(4)(q12q12) | |del(4)(q12q12) | ||
|''FIP1L1 | |''FIP1L1::PDGFRA'' | ||
|NO | |NO | ||
| | |<ref name=":14" /> | ||
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
| Line 426: | Line 426: | ||
|''ATF7IP'' | |''ATF7IP'' | ||
|t(5;12)(q32;p13.1) | |t(5;12)(q32;p13.1) | ||
|''ATF7IP | |''ATF7IP::PDGFRB'' on der(5) | ||
|YES | |YES | ||
| | |<ref>{{Cite journal|last=Kobayashi|first=Kenichiro|last2=Mitsui|first2=Kazumasa|last3=Ichikawa|first3=Hitoshi|last4=Nakabayashi|first4=Kazuhiko|last5=Matsuoka|first5=Masaki|last6=Kojima|first6=Yasuko|last7=Takahashi|first7=Hiroyuki|last8=Iijima|first8=Kazutoshi|last9=Ootsubo|first9=Kaori|date=2014-06|title=ATF7IP as a novel PDGFRB fusion partner in acute lymphoblastic leukaemia in children|url=https://pubmed.ncbi.nlm.nih.gov/24628626|journal=British Journal of Haematology|volume=165|issue=6|pages=836–841|doi=10.1111/bjh.12834|issn=1365-2141|pmid=24628626}}</ref><ref>{{Cite journal|last=Ishibashi|first=Takeshi|last2=Yaguchi|first2=Akinori|last3=Terada|first3=Kazuki|last4=Ueno-Yokohata|first4=Hitomi|last5=Tomita|first5=Osamu|last6=Iijima|first6=Kazutoshi|last7=Kobayashi|first7=Kenichiro|last8=Okita|first8=Hajime|last9=Fujimura|first9=Junya|date=2016-03|title=Ph-like ALL-related novel fusion kinase ATF7IP-PDGFRB exhibits high sensitivity to tyrosine kinase inhibitors in murine cells|url=https://pubmed.ncbi.nlm.nih.gov/26703895|journal=Experimental Hematology|volume=44|issue=3|pages=177–188.e5|doi=10.1016/j.exphem.2015.11.009|issn=1873-2399|pmid=26703895}}</ref><ref>{{Cite journal|last=Zhang|first=Ge|last2=Zhang|first2=Yanle|last3=Wu|first3=Jianrong|last4=Chen|first4=Yan|last5=Ma|first5=Zhigui|date=2017-11-14|title=Acute Lymphoblastic Leukemia Patient with Variant ATF7IP/PDGFRB Fusion and Favorable Response to Tyrosine Kinase Inhibitor Treatment: A Case Report|url=https://pubmed.ncbi.nlm.nih.gov/29133777|journal=The American Journal of Case Reports|volume=18|pages=1204–1208|doi=10.12659/ajcr.906300|issn=1941-5923|pmc=5700447|pmid=29133777}}</ref> | ||
| | | | ||
|- | |- | ||
|''EBF1'' | |''EBF1'' | ||
|del(5)(q32q33.3) | |del(5)(q32q33.3) | ||
|''EBF1 | |''EBF1::PDGFRB'' | ||
|NO | |NO | ||
| | |<ref>{{Cite journal|last=Schwab|first=Claire|last2=Ryan|first2=Sarra L.|last3=Chilton|first3=Lucy|last4=Elliott|first4=Alannah|last5=Murray|first5=James|last6=Richardson|first6=Stacey|last7=Wragg|first7=Christopher|last8=Moppett|first8=John|last9=Cummins|first9=Michelle|date=2016-05-05|title=EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications|url=https://pubmed.ncbi.nlm.nih.gov/26872634|journal=Blood|volume=127|issue=18|pages=2214–2218|doi=10.1182/blood-2015-09-670166|issn=1528-0020|pmid=26872634}}</ref> | ||
|Interstitial deletion | |Interstitial deletion | ||
|- | |- | ||
|''[[ETV6]]'' | |''[[ETV6]]'' | ||
|t(5;12)(q32;p13.2) | |t(5;12)(q32;p13.2) | ||
|''ETV6 | |''ETV6::PDGFRB'' on der(5) | ||
|YES | |YES | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
|''SNX29'' | |''SNX29'' | ||
|t(5;16)(q32;p13.1) | |t(5;16)(q32;p13.1) | ||
|''SNX29 | |''SNX29::PDGFRB'' on der(5) | ||
|YES | |YES | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
|''SSBP2'' | |''SSBP2'' | ||
|t(5;5)(q14.1;q32) | |t(5;5)(q14.1;q32) | ||
|''SSBP2 | |''SSBP2::PDGFRB'' | ||
|? YES | |? YES | ||
| | |<ref name=":10" /> | ||
|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 | ||
|- | |- | ||
|''TNIP1'' | |''TNIP1'' | ||
|del(5)(q32q33.1) | |del(5)(q32q33.1) | ||
|''TNIP1 | |''TNIP1::PDGFRB'' | ||
|NO | |NO | ||
| | |<ref name=":10" /> | ||
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
|''ZEB2'' | |''ZEB2'' | ||
|t(2;5)(q22.3;q32) | |t(2;5)(q22.3;q32) | ||
|''ZEB2 | |''ZEB2::PDGFRB'' on der(5) | ||
|YES | |YES | ||
| | |<ref name=":9" /> | ||
| | | | ||
|- | |- | ||
|''ZMYND8'' | |''ZMYND8'' | ||
|t(5;20)(q32;q13.1) | |t(5;20)(q32;q13.1) | ||
|''ZMYND8 | |''ZMYND8::PDGFRB'' on der(5) | ||
|YES | |YES | ||
| | |<ref name=":2" /> | ||
| | | | ||
|- | |- | ||
| Line 483: | Line 483: | ||
|''[[KDM6A]]'' | |''[[KDM6A]]'' | ||
|t(X;8)(p11.3;p21.2) | |t(X;8)(p11.3;p21.2) | ||
|''KDM6A | |''KDM6A::PTK2B'' on der(8) | ||
|YES | |YES | ||
| | |<ref name=":9" /> | ||
| | | | ||
|- | |- | ||
|''[[STAG2]]'' | |''[[STAG2]]'' | ||
|t(X;8)(q25;p21.2) | |t(X;8)(q25;p21.2) | ||
|''STAG2 | |''STAG2::PTK2B'' | ||
|YES | |YES | ||
| | |<ref name=":9" /> | ||
|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 | ||
|- | |- | ||
|''TMEM2'' | |''TMEM2'' | ||
|t(8;9)(p21.2;q21.1) | |t(8;9)(p21.2;q21.1) | ||
|''TMEM2 | |''TMEM2::PTK2B'' on der(8) | ||
|YES | |YES | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
| Line 505: | Line 505: | ||
|''MYB'' | |''MYB'' | ||
|t(6;19)(q23.3;p13.2) | |t(6;19)(q23.3;p13.2) | ||
|''MYB | |''MYB::TYK2'' on der(6) | ||
|YES | |YES | ||
| | |<ref name=":13" /> | ||
| | | | ||
|- | |- | ||
|''SMARCA4'' | |''SMARCA4'' | ||
|inv(19)(p13.2p13.2) | |inv(19)(p13.2p13.2) | ||
|''SMARCA4 | |''SMARCA4::TYK2'' | ||
|NO | |NO | ||
| | |<ref name=":10" /> | ||
| | | | ||
|- | |- | ||
|''ZNF340'' | |''ZNF340'' | ||
|t(19;20)(p13.2;q13.3) | |t(19;20)(p13.2;q13.3) | ||
|''ZNF340 | |''ZNF340::TYK2'' | ||
|NO | |NO | ||
| | |<ref name=":10" /> | ||
|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 | ||
|} | |}<blockquote class="blockedit"><center> | ||
<blockquote class="blockedit"><center> | |||
</blockquote> | </blockquote> | ||
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in: | <blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in: | ||
* Chromosomal Rearrangements (Gene Fusions) | * Chromosomal Rearrangements (Gene Fusions) | ||
| Line 635: | Line 566: | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references). | Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references). | ||
|} | |} | ||
| Line 865: | Line 764: | ||
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author. | <nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author. | ||
Prior Author(s): | Prior Author(s): Fabiola Quintero-Rivera, MD | ||