Compendium of Cancer Genome Aberrations

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

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{{DISPLAYTITLE:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes}}
{{DISPLAYTITLE:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
Put your text here<span style="color:#0070C0"> (Rolando Garcia, PhD) </span>
==WHO Classification of Disease==
==WHO Classification of Disease==


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|WHO Essential Criteria (Genetics)*
|WHO Essential Criteria (Genetics)*
|
|Detection of a tyrosine kinase fusion gene not classified under specific unique entities (''PDGFRA, PDGFRB, FGFR1, JAK2, FLT3, ETV6::ABL1'').
|-
|-
|WHO Desirable Criteria (Genetics)*
|WHO Desirable Criteria (Genetics)*
|
|Cytogenetic translocation suggesting a potential involvement of a tyrosine kinase gene, with selection of a FISH break-apart probe or another molecular assay for confirmation.
|-
|-
|Other Classification
|Other Classification
|
|Other desirable criteria: Presence of eosinophilia.
|}
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
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|Acceptable
|Acceptable
|
|Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes, Other and unspecified myeloproliferative neoplasms.
|-
|-
|Not Recommended
|Not Recommended
|
|Myeloid/lymphoid neoplasms with tyrosine kinase fusion genes (NOS).
|}
|}


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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
|''ETV6''||''ETV6::FGFR2'' <ref>{{Cite journal|last=Carll|first=Timothy|last2=Patel|first2=Anand|last3=Derman|first3=Benjamin|last4=Hyjek|first4=Elizabeth|last5=Lager|first5=Angela|last6=Wanjari|first6=Pankhuri|last7=Segal|first7=Jeremy|last8=Odenike|first8=Olatoyosi|last9=Fidai|first9=Shiraz|date=2020-10-13|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement|url=https://pubmed.ncbi.nlm.nih.gov/33049052|journal=Blood Advances|volume=4|issue=19|pages=4924–4928|doi=10.1182/bloodadvances.2019001282|issn=2473-9537|pmc=7556145|pmid=33049052}}</ref>||Fusion between exon 4 of ''ETV6'' (upstream) and exon 5 of ''FGFR2'' (downstream).||Cryptic rearrangement detected by FISH involving chromosomes 10 and 12
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|Rare < 5%
|<span class="blue-text">EXAMPLE:</span> D, P, T
|D, P, T
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|Yes (WHO)
|<span class="blue-text">EXAMPLE:</span>
|This fusion suggests abnormal FGFR2 expression. Aberrant The ''FGFR2'' activation resulting from ''ETV6::FGFR2'' may respond to ''FGFR1,2,3'' tyrosine kinase inhibitors (TKIs). <ref>{{Cite journal|last=Katoh|first=Masaru|date=2019-02|title=Fibroblast growth factor receptors as treatment targets in clinical oncology|url=https://pubmed.ncbi.nlm.nih.gov/30367139|journal=Nature Reviews. Clinical Oncology|volume=16|issue=2|pages=105–122|doi=10.1038/s41571-018-0115-y|issn=1759-4782|pmid=30367139}}</ref> This rearrangement exhibited aggressive clinical behavior, demonstrating resistance to both conventional and intensive chemotherapy, as well as allogeneic stem cell transplantation.<ref>{{Cite journal|last=Carll|first=Timothy|last2=Patel|first2=Anand|last3=Derman|first3=Benjamin|last4=Hyjek|first4=Elizabeth|last5=Lager|first5=Angela|last6=Wanjari|first6=Pankhuri|last7=Segal|first7=Jeremy|last8=Odenike|first8=Olatoyosi|last9=Fidai|first9=Shiraz|date=2020-10-13|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement|url=https://pubmed.ncbi.nlm.nih.gov/33049052|journal=Blood Advances|volume=4|issue=19|pages=4924–4928|doi=10.1182/bloodadvances.2019001282|issn=2473-9537|pmc=7556145|pmid=33049052}}</ref> The prognosis remains unclear due to the limited number of cases.
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''CIC''
|''ETV6''
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|''ETV6::LYN'' <ref>{{Cite journal|last=Telford|first=N.|last2=Alexander|first2=S.|last3=McGinn|first3=O. J.|last4=Williams|first4=M.|last5=Wood|first5=K. M.|last6=Bloor|first6=A.|last7=Saha|first7=V.|date=2016-04-08|title=Myeloproliferative neoplasm with eosinophilia and T-lymphoblastic lymphoma with ETV6-LYN gene fusion|url=https://pubmed.ncbi.nlm.nih.gov/27058227|journal=Blood Cancer Journal|volume=6|issue=4|pages=e412|doi=10.1038/bcj.2016.11|issn=2044-5385|pmc=4855251|pmid=27058227}}</ref><ref>{{Cite journal|last=Ma|first=Edmond S. K.|last2=Wan|first2=Thomas S. K.|last3=Au|first3=Chun Hang|last4=Ho|first4=Dona N.|last5=Ma|first5=Shing Yan|last6=Ng|first6=Margaret H. L.|last7=Chan|first7=Tsun Leung|date=2017-12|title=Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29153093|journal=Cancer Genetics|volume=218-219|pages=15–19|doi=10.1016/j.cancergen.2017.09.001|issn=2210-7762|pmid=29153093}}</ref><ref>{{Cite journal|last=Tanaka|first=H.|last2=Takeuchi|first2=M.|last3=Takeda|first3=Y.|last4=Sakai|first4=S.|last5=Abe|first5=D.|last6=Ohwada|first6=C.|last7=Sakaida|first7=E.|last8=Shimizu|first8=N.|last9=Saito|first9=Y.|date=2010-01|title=Identification of a novel TEL-Lyn fusion gene in primary myelofibrosis|url=https://pubmed.ncbi.nlm.nih.gov/19710703|journal=Leukemia|volume=24|issue=1|pages=197–200|doi=10.1038/leu.2009.167|issn=1476-5551|pmid=19710703}}</ref>
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
|Fusion between exon 5 in ''ETV6'' to exon 8 in ''LYN'' (5′ to 3′ orientation to produce an in-frame chimeric fusion)
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
|Complex rearrangements involving chromosomes 8 and 12 [e.g. t(8;12)(q12;p13), ins(12;8)(p13;q11q21)]
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
|Rare < 5%
|<span class="blue-text">EXAMPLE:</span> D
|D. P,T
|
|Yes (WHO)
|<span class="blue-text">EXAMPLE:</span>
|Resistant to intensive chemotherapy or stem cell transplant, the disease progressed rapidly to terminal AML.<ref>{{Cite journal|last=Telford|first=N.|last2=Alexander|first2=S.|last3=McGinn|first3=O. J.|last4=Williams|first4=M.|last5=Wood|first5=K. M.|last6=Bloor|first6=A.|last7=Saha|first7=V.|date=2016-04-08|title=Myeloproliferative neoplasm with eosinophilia and T-lymphoblastic lymphoma with ETV6-LYN gene fusion|url=https://pubmed.ncbi.nlm.nih.gov/27058227|journal=Blood Cancer Journal|volume=6|issue=4|pages=e412|doi=10.1038/bcj.2016.11|issn=2044-5385|pmc=4855251|pmid=27058227}}</ref> Prognosis is not well defined due to the small number of cases.
 
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''ALK''
|''ETV6''
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
|''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>
 
|Fusion between ETV6 and NTRK3 (5′ to 3′ orientation)
 
|t(12;15)(p13;q25)
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
|<span class="blue-text">EXAMPLE:</span> N/A
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> T
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<nowiki>*</nowiki>''Citation of this Page'': “Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid/lymphoid_neoplasms_with_other_tyrosine_kinase_fusion_genes</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid/lymphoid_neoplasms_with_other_tyrosine_kinase_fusion_genes</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases M]]
<references />
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