Compendium of Cancer Genome Aberrations

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

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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
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|<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||<span class="blue-text">''ETV6::FGFR2''</span> <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>
|<span class="blue-text">EXAMPLE:</span>
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).
 
 
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>
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|<span class="blue-text">EXAMPLE:</span> ''CIC''
|<span class="blue-text">EXAMPLE:</span> ''CIC''
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