STBT5:Pleomorphic hyalinizing angiectatic tumour of soft parts: Difference between revisions

[unchecked revision]

[checked revision]

← Older edit

VisualWikitext

@@ Line 1: / Line 1: @@
 {{DISPLAYTITLE:Pleomorphic hyalinizing angiectatic tumour of soft parts}}
 [[STBT5:Table_of_Contents|Soft Tissue and Bone Tumors (Who Classification, 5th ed.)]]
-{{Under Construction}}
 ==Primary Author(s)*==
-Mokhtar Abdelhammed, MD; Kathleen (Katie) Schieffer, PhD
+Mokhtar Abdelhammed, MD; Kathleen Schieffer, PhD
 ==WHO Classification of Disease==
@@ Line 39: / Line 37: @@
 ==Gene Rearrangements==
-Pleomorphic hyalinizing angiectatic tumor (PHAT), which is genetically similar to [[myxoinflammatory fibroblastic sarcoma]] (MIFS) and [[hemosiderotic fibrolipomatous tumor]] (HFLT), is characterized by a recurrent t(1;10)(p22;q24) translocation.<ref name=":0">{{Cite journal|last=Antonescu|first=Cristina R.|last2=Zhang|first2=Lei|last3=Nielsen|first3=G. Petur|last4=Rosenberg|first4=Andrew E.|last5=Dal Cin|first5=Paola|last6=Fletcher|first6=Christopher D. M.|date=2011-10|title=Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor|url=https://pubmed.ncbi.nlm.nih.gov/21717526|journal=Genes, Chromosomes & Cancer|volume=50|issue=10|pages=757–764|doi=10.1002/gcc.20897|issn=1098-2264|pmc=3361892|pmid=21717526}}</ref><ref name=":1">{{Cite journal|last=Hallor|first=Karolin H.|last2=Sciot|first2=Raf|last3=Staaf|first3=Johan|last4=Heidenblad|first4=Markus|last5=Rydholm|first5=Anders|last6=Bauer|first6=Henrik Cf|last7=Aström|first7=Kristina|last8=Domanski|first8=Henryk A.|last9=Meis|first9=Jeanne M.|date=2009-04|title=Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions|url=https://pubmed.ncbi.nlm.nih.gov/19199331|journal=The Journal of Pathology|volume=217|issue=5|pages=716–727|doi=10.1002/path.2513|issn=1096-9896|pmid=19199331}}</ref><ref name=":2">{{Cite journal|last=Liu|first=Huifei|last2=Sukov|first2=William R.|last3=Ro|first3=Jae Y.|date=2019-02|title=The t(1;10)(p22;q24) TGFBR3/MGEA5 Translocation in Pleomorphic Hyalinizing Angiectatic Tumor, Myxoinflammatory Fibroblastic Sarcoma, and Hemosiderotic Fibrolipomatous Tumor|url=https://pubmed.ncbi.nlm.nih.gov/29979612|journal=Archives of Pathology & Laboratory Medicine|volume=143|issue=2|pages=212–221|doi=10.5858/arpa.2017-0412-RA|issn=1543-2165|pmid=29979612}}</ref> Fluorescence ''in situ'' hybridization (FISH) studies have identified a rearrangement of ''TGFBR3'' on chromosome 1p22 and ''OGA'' (previously known as and commonly reported in the literature as ''MGEA5'') on chromosome 10q24 in a subset of cases.<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3">{{Cite journal|last=Carter|first=Jodi M.|last2=Sukov|first2=William R.|last3=Montgomery|first3=Elizabeth|last4=Goldblum|first4=John R.|last5=Billings|first5=Steven D.|last6=Fritchie|first6=Karen J.|last7=Folpe|first7=Andrew L.|date=2014-09|title=TGFBR3 and MGEA5 rearrangements in pleomorphic hyalinizing angiectatic tumors and the spectrum of related neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/24705316|journal=The American Journal of Surgical Pathology|volume=38|issue=9|pages=1182–1992|doi=10.1097/PAS.0000000000000212|issn=1532-0979|pmid=24705316}}</ref><ref name=":4">{{Cite journal|last=Zreik|first=Riyam T.|last2=Carter|first2=Jodi M.|last3=Sukov|first3=William R.|last4=Ahrens|first4=William A.|last5=Fritchie|first5=Karen J.|last6=Montgomery|first6=Elizabeth A.|last7=Weiss|first7=Sharon W.|last8=Folpe|first8=Andrew L.|date=2016-07|title=TGFBR3 and MGEA5 rearrangements are much more common in "hybrid" hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: a morphological and fluorescence in situ hybridization study|url=https://pubmed.ncbi.nlm.nih.gov/26980036|journal=Human Pathology|volume=53|pages=14–24|doi=10.1016/j.humpath.2016.02.005|issn=1532-8392|pmid=26980036}}</ref> However, a subsequent study using targeted RNA-sequencing in a case of PHAT identified ''FBXW4'', as the fusion partner for ''TGFBR3''. Close proximity of ''FBXW4'' and ''OGA'' (''MGEA5'') at 10q24 may have led to initial misidentification with FISH.<ref name=":5">{{Cite journal|last=Rougemont|first=Anne-Laure|last2=Berczy|first2=Margaret|last3=Lin Marq|first3=Nathalie|last4=McKee|first4=Thomas A.|last5=Christinat|first5=Yann|date=2019-08|title=Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of TGFBR3 in pleomorphic hyalinizing angiectatic tumor|url=https://pubmed.ncbi.nlm.nih.gov/30911815|journal=Virchows Archiv: An International Journal of Pathology|volume=475|issue=2|pages=251–254|doi=10.1007/s00428-019-02556-2|issn=1432-2307|pmid=30911815}}</ref>
+Pleomorphic hyalinizing angiectatic tumor (PHAT), which is genetically similar to [[STBT5:Myxoinflammatory fibroblastic sarcoma|myxoinflammatory fibroblastic sarcoma]] (MIFS) and [[STBT5:Haemosiderotic fibrolipomatous tumour|hemosiderotic fibrolipomatous tumor]] (HFLT), is characterized by a recurrent t(1;10)(p22;q24) translocation.<ref name=":0">{{Cite journal|last=Antonescu|first=Cristina R.|last2=Zhang|first2=Lei|last3=Nielsen|first3=G. Petur|last4=Rosenberg|first4=Andrew E.|last5=Dal Cin|first5=Paola|last6=Fletcher|first6=Christopher D. M.|date=2011-10|title=Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor|url=https://pubmed.ncbi.nlm.nih.gov/21717526|journal=Genes, Chromosomes & Cancer|volume=50|issue=10|pages=757–764|doi=10.1002/gcc.20897|issn=1098-2264|pmc=3361892|pmid=21717526}}</ref><ref name=":1">{{Cite journal|last=Hallor|first=Karolin H.|last2=Sciot|first2=Raf|last3=Staaf|first3=Johan|last4=Heidenblad|first4=Markus|last5=Rydholm|first5=Anders|last6=Bauer|first6=Henrik Cf|last7=Aström|first7=Kristina|last8=Domanski|first8=Henryk A.|last9=Meis|first9=Jeanne M.|date=2009-04|title=Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions|url=https://pubmed.ncbi.nlm.nih.gov/19199331|journal=The Journal of Pathology|volume=217|issue=5|pages=716–727|doi=10.1002/path.2513|issn=1096-9896|pmid=19199331}}</ref><ref name=":2">{{Cite journal|last=Liu|first=Huifei|last2=Sukov|first2=William R.|last3=Ro|first3=Jae Y.|date=2019-02|title=The t(1;10)(p22;q24) TGFBR3/MGEA5 Translocation in Pleomorphic Hyalinizing Angiectatic Tumor, Myxoinflammatory Fibroblastic Sarcoma, and Hemosiderotic Fibrolipomatous Tumor|url=https://pubmed.ncbi.nlm.nih.gov/29979612|journal=Archives of Pathology & Laboratory Medicine|volume=143|issue=2|pages=212–221|doi=10.5858/arpa.2017-0412-RA|issn=1543-2165|pmid=29979612}}</ref> Fluorescence ''in situ'' hybridization (FISH) studies have identified a rearrangement of ''TGFBR3'' on chromosome 1p22 and ''OGA'' (previously known as and commonly reported in the literature as ''MGEA5'') on chromosome 10q24 in a subset of cases.<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3">{{Cite journal|last=Carter|first=Jodi M.|last2=Sukov|first2=William R.|last3=Montgomery|first3=Elizabeth|last4=Goldblum|first4=John R.|last5=Billings|first5=Steven D.|last6=Fritchie|first6=Karen J.|last7=Folpe|first7=Andrew L.|date=2014-09|title=TGFBR3 and MGEA5 rearrangements in pleomorphic hyalinizing angiectatic tumors and the spectrum of related neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/24705316|journal=The American Journal of Surgical Pathology|volume=38|issue=9|pages=1182–1992|doi=10.1097/PAS.0000000000000212|issn=1532-0979|pmid=24705316}}</ref><ref name=":4">{{Cite journal|last=Zreik|first=Riyam T.|last2=Carter|first2=Jodi M.|last3=Sukov|first3=William R.|last4=Ahrens|first4=William A.|last5=Fritchie|first5=Karen J.|last6=Montgomery|first6=Elizabeth A.|last7=Weiss|first7=Sharon W.|last8=Folpe|first8=Andrew L.|date=2016-07|title=TGFBR3 and MGEA5 rearrangements are much more common in "hybrid" hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: a morphological and fluorescence in situ hybridization study|url=https://pubmed.ncbi.nlm.nih.gov/26980036|journal=Human Pathology|volume=53|pages=14–24|doi=10.1016/j.humpath.2016.02.005|issn=1532-8392|pmid=26980036}}</ref> However, a subsequent study using targeted RNA-sequencing in a case of PHAT identified ''FBXW4'', as the fusion partner for ''TGFBR3''. Close proximity of ''FBXW4'' and ''OGA'' (''MGEA5'') at 10q24 may have led to initial misidentification with FISH.<ref name=":5">{{Cite journal|last=Rougemont|first=Anne-Laure|last2=Berczy|first2=Margaret|last3=Lin Marq|first3=Nathalie|last4=McKee|first4=Thomas A.|last5=Christinat|first5=Yann|date=2019-08|title=Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of TGFBR3 in pleomorphic hyalinizing angiectatic tumor|url=https://pubmed.ncbi.nlm.nih.gov/30911815|journal=Virchows Archiv: An International Journal of Pathology|volume=475|issue=2|pages=251–254|doi=10.1007/s00428-019-02556-2|issn=1432-2307|pmid=30911815}}</ref>
 {| class="wikitable sortable"
 |-
@@ Line 50: / Line 48: @@
 |''TGFBR3''
 |
 ''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 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" />
 |N/A
@@ Line 131: / Line 128: @@
 |}
 ==Genetic Diagnostic Testing Methods==
-. 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
@@ Line 138: / Line 135: @@
-. Targeted RNA-sequencing
+'''2. Targeted RNA-sequencing'''
 - Can provide a more precise identification of fusion partners involved in the t(1;10) translocation