STBT5:Angiomyofibroblastoma: Difference between revisions
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|''CYP2E1'' | |''CYP2E1'' | ||
|''MTG1'' | |''MTG1::CYP2E1'' | ||
|In-frame fusion that results in aberrant expression of ''CYP2E1'' under the control of the ''MTG1'' promoter.<ref name=":0">{{Cite journal|last=Tajiri|first=Ryosuke|last2=Shiba|first2=Eisuke|last3=Iwamura|first3=Ryuji|last4=Kubo|first4=Chisachi|last5=Nawata|first5=Aya|last6=Harada|first6=Hiroshi|last7=Yoshino|first7=Kiyoshi|last8=Hisaoka|first8=Masanori|date=2021-12|title=Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion|url=https://pubmed.ncbi.nlm.nih.gov/34385605|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=34|issue=12|pages=2222–2228|doi=10.1038/s41379-021-00886-8|issn=1530-0285|pmid=34385605}}</ref> Breakpoints are typically reported in exon 9 of ''MTG1'' (NM_138384.4) to the 5' regulatory region of ''CYP2E1'' (NG_055447.1)<ref name=":0" /> | |In-frame fusion that results in aberrant expression of ''CYP2E1'' under the control of the ''MTG1'' promoter.<ref name=":0">{{Cite journal|last=Tajiri|first=Ryosuke|last2=Shiba|first2=Eisuke|last3=Iwamura|first3=Ryuji|last4=Kubo|first4=Chisachi|last5=Nawata|first5=Aya|last6=Harada|first6=Hiroshi|last7=Yoshino|first7=Kiyoshi|last8=Hisaoka|first8=Masanori|date=2021-12|title=Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion|url=https://pubmed.ncbi.nlm.nih.gov/34385605|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=34|issue=12|pages=2222–2228|doi=10.1038/s41379-021-00886-8|issn=1530-0285|pmid=34385605}}</ref> Breakpoints are typically reported in exon 9 of ''MTG1'' (NM_138384.4) to the 5' regulatory region of ''CYP2E1'' (NG_055447.1)<ref name=":0" /> | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
| | |''MTG1::CYP2E1'' fusion; Gene fusion | ||
| | |Mitochondrial function and drug metabolism pathways | ||
| | |The specific pathophysiologic mechanism by which the ''MTG1::CYP2E1'' fusion drives tumorigenesis remains to be elucidated. | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
# '''Fusion testing''' | #'''Fusion testing''' | ||
#* Targeted sequencing (such as RT-PCR or targeted next-generation sequencing (NGS) panels) | #*Targeted sequencing (such as RT-PCR or targeted next-generation sequencing (NGS) panels) | ||
#** For targeted NGS panels, consider if the assay requires both gene partners to be included on the panel or if it is able to identify novel fusions as long as one of the partners is included on the panel | #**For targeted NGS panels, consider if the assay requires both gene partners to be included on the panel or if it is able to identify novel fusions as long as one of the partners is included on the panel | ||
#* Whole transcriptome RNA-sequencing | #*Whole transcriptome RNA-sequencing | ||
#** Provides an unbiased approach to fusion calling | #**Provides an unbiased approach to fusion calling | ||
==Familial Forms== | ==Familial Forms== | ||
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None | None | ||
==References== | ==References== | ||
<br /> | <references /><br /> | ||
==Notes== | ==Notes== | ||
<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. | ||
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[[Category:DISEASE]] | [[Category:DISEASE]] | ||
[[Category:Diseases A]] | [[Category:Diseases A]] | ||
<references /> | |||