STBT5:Pleomorphic hyalinizing angiectatic tumour of soft parts: Difference between revisions
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{{DISPLAYTITLE:Pleomorphic hyalinizing angiectatic tumour of soft parts}} | {{DISPLAYTITLE:Pleomorphic hyalinizing angiectatic tumour of soft parts}} | ||
[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumors (Who Classification, 5th ed.)]] | [[STBT5:Table_of_Contents|Soft Tissue and Bone Tumors (Who Classification, 5th ed.)]] | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
Mokhtar Abdelhammed, MD; Kathleen Schieffer, PhD | Mokhtar Abdelhammed, MD; Kathleen Schieffer, PhD | ||
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|''TGFBR3'' | |''TGFBR3'' | ||
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''OGA'' (''MGEA5'')<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" /><ref name=":4" /><ref>{{Cite journal|last=Boland|first=Jennifer M.|last2=Folpe|first2=Andrew L.|date=2017-09|title=Hemosiderotic Fibrolipomatous Tumor, Pleomorphic Hyalinizing Angiectatic Tumor, and Myxoinflammatory Fibroblastic Sarcoma: Related or Not?|url=https://pubmed.ncbi.nlm.nih.gov/28375867|journal=Advances in Anatomic Pathology|volume=24|issue=5|pages=268–277|doi=10.1097/PAP.0000000000000151|issn=1533-4031|pmid=28375867}}</ref> | ''OGA'' (''MGEA5'')<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" /><ref name=":4" /><ref>{{Cite journal|last=Boland|first=Jennifer M.|last2=Folpe|first2=Andrew L.|date=2017-09|title=Hemosiderotic Fibrolipomatous Tumor, Pleomorphic Hyalinizing Angiectatic Tumor, and Myxoinflammatory Fibroblastic Sarcoma: Related or Not?|url=https://pubmed.ncbi.nlm.nih.gov/28375867|journal=Advances in Anatomic Pathology|volume=24|issue=5|pages=268–277|doi=10.1097/PAP.0000000000000151|issn=1533-4031|pmid=28375867}}</ref> | ||
''FBXW4''<ref name=":5" /> | |||
''FBXW4''<ref name=":5" /> | |||
|The unbalanced t(1;10) juxtaposes ''TGFBR3'' with a region within or near ''OGA'' (''MGEA5'') on 10q24.<ref name=":0" /><ref name=":1" /><ref name=":2" /> A single study using RNA-sequencing identified ''FBXW4'', located adjacent to ''OGA'' (''MGEA5'') on 10q24 as a fusion partner.<ref name=":5" /> The ''FBXW4::TGFBR3'' fusion had breakpoints in exon 6 of ''FBXW4'' (NM_022039.3) and exon 14 of ''TGFBR3'' (NM_003243.4), resulting in an out-of-frame product.<ref name=":5" /> | |The unbalanced t(1;10) juxtaposes ''TGFBR3'' with a region within or near ''OGA'' (''MGEA5'') on 10q24.<ref name=":0" /><ref name=":1" /><ref name=":2" /> A single study using RNA-sequencing identified ''FBXW4'', located adjacent to ''OGA'' (''MGEA5'') on 10q24 as a fusion partner.<ref name=":5" /> The ''FBXW4::TGFBR3'' fusion had breakpoints in exon 6 of ''FBXW4'' (NM_022039.3) and exon 14 of ''TGFBR3'' (NM_003243.4), resulting in an out-of-frame product.<ref name=":5" /> | ||
The translocation is associated with upregulation of genes like ''FGF8'', potentially via a position effect.<ref name=":1" /> | |||
The translocation is associated with upregulation of genes like ''FGF8'', potentially via a position effect.<ref name=":1" /> | |||
|der(10)t(1;10)(p22;q24)<ref name=":0" /><ref name=":1" /><ref name=":2" /> | |der(10)t(1;10)(p22;q24)<ref name=":0" /><ref name=":1" /><ref name=":2" /> | ||
|N/A | |N/A | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
1. Fluorescence ''in situ'' hybridization (FISH) | '''1. Fluorescence ''in situ'' hybridization (FISH)''' | ||
- Break apart probes for ''TGFBR3'' on 1p22 is a method to detect the rearrangement in PHAT | - Break apart probes for ''TGFBR3'' on 1p22 is a method to detect the rearrangement in PHAT | ||
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2. Targeted RNA-sequencing | |||
'''2. Targeted RNA-sequencing''' | |||
- Can provide a more precise identification of fusion partners involved in the t(1;10) translocation | - Can provide a more precise identification of fusion partners involved in the t(1;10) translocation | ||