HAEM5:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes: Difference between revisions

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|''ETV6''
|''ETV6''
|''ETV6::NTRK3''<ref>{{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>{{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>
|''ETV6::NTRK3''<ref>{{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>{{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>
|Fusion between ETV6 and NTRK3 (5′ to 3′ orientation)
|Fusion between ''ETV6'' and ''NTRK3'' (5′ to 3′ orientation)
|t(12;15)(p13;q25)
|t(12;15)(p13;q25)
|''ETV6::NTRK3'' is reported in multiple cancers but rare < 5% in acute lymphoblastic leukemia. <ref>{{Cite journal|last=Knezevich|first=S. R.|last2=Garnett|first2=M. J.|last3=Pysher|first3=T. J.|last4=Beckwith|first4=J. B.|last5=Grundy|first5=P. E.|last6=Sorensen|first6=P. H.|date=1998-11-15|title=ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma|url=https://pubmed.ncbi.nlm.nih.gov/9823307|journal=Cancer Research|volume=58|issue=22|pages=5046–5048|issn=0008-5472|pmid=9823307}}</ref><ref>{{Cite journal|last=Tognon|first=Cristina|last2=Knezevich|first2=Stevan R.|last3=Huntsman|first3=David|last4=Roskelley|first4=Calvin D.|last5=Melnyk|first5=Natalya|last6=Mathers|first6=Joan A.|last7=Becker|first7=Laurence|last8=Carneiro|first8=Fatima|last9=MacPherson|first9=Nicol|date=2002-11|title=Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/12450792|journal=Cancer Cell|volume=2|issue=5|pages=367–376|doi=10.1016/s1535-6108(02)00180-0|issn=1535-6108|pmid=12450792}}</ref><ref>{{Cite journal|last=Alessandri|first=A. J.|last2=Knezevich|first2=S. R.|last3=Mathers|first3=J. A.|last4=Schultz|first4=K. R.|last5=Sorensen|first5=P. H.|date=2001-10|title=Absence of t(12;15) associated ETV6-NTRK3 fusion transcripts in pediatric acute leukemias|url=https://pubmed.ncbi.nlm.nih.gov/11568911|journal=Medical and Pediatric Oncology|volume=37|issue=4|pages=415–416|doi=10.1002/mpo.1222|issn=0098-1532|pmid=11568911}}</ref>
|''ETV6::NTRK3'' is reported in multiple cancers but rare < 5% in acute lymphoblastic leukemia. <ref>{{Cite journal|last=Knezevich|first=S. R.|last2=Garnett|first2=M. J.|last3=Pysher|first3=T. J.|last4=Beckwith|first4=J. B.|last5=Grundy|first5=P. E.|last6=Sorensen|first6=P. H.|date=1998-11-15|title=ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma|url=https://pubmed.ncbi.nlm.nih.gov/9823307|journal=Cancer Research|volume=58|issue=22|pages=5046–5048|issn=0008-5472|pmid=9823307}}</ref><ref>{{Cite journal|last=Tognon|first=Cristina|last2=Knezevich|first2=Stevan R.|last3=Huntsman|first3=David|last4=Roskelley|first4=Calvin D.|last5=Melnyk|first5=Natalya|last6=Mathers|first6=Joan A.|last7=Becker|first7=Laurence|last8=Carneiro|first8=Fatima|last9=MacPherson|first9=Nicol|date=2002-11|title=Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/12450792|journal=Cancer Cell|volume=2|issue=5|pages=367–376|doi=10.1016/s1535-6108(02)00180-0|issn=1535-6108|pmid=12450792}}</ref><ref>{{Cite journal|last=Alessandri|first=A. J.|last2=Knezevich|first2=S. R.|last3=Mathers|first3=J. A.|last4=Schultz|first4=K. R.|last5=Sorensen|first5=P. H.|date=2001-10|title=Absence of t(12;15) associated ETV6-NTRK3 fusion transcripts in pediatric acute leukemias|url=https://pubmed.ncbi.nlm.nih.gov/11568911|journal=Medical and Pediatric Oncology|volume=37|issue=4|pages=415–416|doi=10.1002/mpo.1222|issn=0098-1532|pmid=11568911}}</ref>
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|ALK
|ALK
|''RANBP2::ALK''<ref>{{Cite journal|last=Röttgers|first=S.|last2=Gombert|first2=M.|last3=Teigler-Schlegel|first3=A.|last4=Busch|first4=K.|last5=Gamerdinger|first5=U.|last6=Slany|first6=R.|last7=Harbott|first7=J.|last8=Borkhardt|first8=A.|date=2010-06|title=ALK fusion genes in children with atypical myeloproliferative leukemia|url=https://pubmed.ncbi.nlm.nih.gov/20428197|journal=Leukemia|volume=24|issue=6|pages=1197–1200|doi=10.1038/leu.2010.18|issn=1476-5551|pmid=20428197}}</ref><ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref>
|''RANBP2::ALK''<ref>{{Cite journal|last=Röttgers|first=S.|last2=Gombert|first2=M.|last3=Teigler-Schlegel|first3=A.|last4=Busch|first4=K.|last5=Gamerdinger|first5=U.|last6=Slany|first6=R.|last7=Harbott|first7=J.|last8=Borkhardt|first8=A.|date=2010-06|title=ALK fusion genes in children with atypical myeloproliferative leukemia|url=https://pubmed.ncbi.nlm.nih.gov/20428197|journal=Leukemia|volume=24|issue=6|pages=1197–1200|doi=10.1038/leu.2010.18|issn=1476-5551|pmid=20428197}}</ref><ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref>
|exon 18 of ''RANBP2'' and exon 20 of ''ALK''<ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref>
|exon 18 of ''RANBP2'' and exon 20 of ''ALK'' (5′ to 3′ orientation).<ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref> Leads to constitutive autophosphorylation of ''ALK'' tyrosine kinase and activating downstream signaling.<ref>{{Cite journal|last=Maesako|first=Yoshitomo|last2=Izumi|first2=Kiyotaka|last3=Okamori|first3=Satoshi|last4=Takeoka|first4=Kayo|last5=Kishimori|first5=Chiyuki|last6=Okumura|first6=Atsuko|last7=Honjo|first7=Gen|last8=Akasaka|first8=Takashi|last9=Ohno|first9=Hitoshi|date=2014-02|title=inv(2)(p23q13)/RAN-binding protein 2 (RANBP2)-ALK fusion gene in myeloid leukemia that developed in an elderly woman|url=https://pubmed.ncbi.nlm.nih.gov/24307515|journal=International Journal of Hematology|volume=99|issue=2|pages=202–207|doi=10.1007/s12185-013-1482-x|issn=1865-3774|pmid=24307515}}</ref>  
|inv(2)(p23q13) / t(2;2)(p23;q13)<ref>{{Cite journal|last=Röttgers|first=S.|last2=Gombert|first2=M.|last3=Teigler-Schlegel|first3=A.|last4=Busch|first4=K.|last5=Gamerdinger|first5=U.|last6=Slany|first6=R.|last7=Harbott|first7=J.|last8=Borkhardt|first8=A.|date=2010-06|title=ALK fusion genes in children with atypical myeloproliferative leukemia|url=https://pubmed.ncbi.nlm.nih.gov/20428197|journal=Leukemia|volume=24|issue=6|pages=1197–1200|doi=10.1038/leu.2010.18|issn=1476-5551|pmid=20428197}}</ref> <ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref>
|inv(2)(p23q13) / t(2;2)(p23;q13)<ref>{{Cite journal|last=Röttgers|first=S.|last2=Gombert|first2=M.|last3=Teigler-Schlegel|first3=A.|last4=Busch|first4=K.|last5=Gamerdinger|first5=U.|last6=Slany|first6=R.|last7=Harbott|first7=J.|last8=Borkhardt|first8=A.|date=2010-06|title=ALK fusion genes in children with atypical myeloproliferative leukemia|url=https://pubmed.ncbi.nlm.nih.gov/20428197|journal=Leukemia|volume=24|issue=6|pages=1197–1200|doi=10.1038/leu.2010.18|issn=1476-5551|pmid=20428197}}</ref> <ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref>
|Rare < 5%
|Rare < 5%
|<span class="blue-text">EXAMPLE:</span> D, P, T
|<span class="blue-text">EXAMPLE:</span> D, P, T
|Yes (WHO)
|Yes (WHO)
|Resistant to intensive chemotherapy and allogeneic SCT. Poor clinical outcome.
|Resistant to intensive chemotherapy and allogeneic SCT. Poor clinical outcome.<ref>{{Cite journal|last=Lim|first=Ji-Hun|last2=Jang|first2=Seongsoo|last3=Park|first3=Chan-Jeoung|last4=Cho|first4=Young-Uk|last5=Lee|first5=Je-Hwan|last6=Lee|first6=Kyoo-Hyung|last7=Lee|first7=Jin-Ok|last8=Shin|first8=Jong-Yeon|last9=Kim|first9=Jong-Il|date=2014|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24613277|journal=Cancer Genetics|volume=207|issue=1-2|pages=40–45|doi=10.1016/j.cancergen.2013.12.003|issn=2210-7762|pmid=24613277}}</ref> Prognosis is not well defined due to the small number of cases.
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