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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|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 | |''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 | ||
|Rare < 5% | |Rare < 5% | ||
|D, P, T | |D, P, T | ||
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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> | 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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| | |''ETV6'' | ||
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4'' | |<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4'' | ||
|<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''. | |<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''. | ||
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[[Category:DISEASE]] | [[Category:DISEASE]] | ||
[[Category:Diseases M]] | [[Category:Diseases M]] | ||
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