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

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 {{DISPLAYTITLE:Pleomorphic hyalinizing angiectatic tumour of soft parts}}
 [[STBT5:Table_of_Contents|Soft Tissue and Bone Tumors (Who Classification, 5th ed.)]]
-{{Under Construction}}
-<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
 ==Primary Author(s)*==
-Mokhtar Abdelhammed, MD; Kathleen (Katie) Schieffer, PhD
+Mokhtar Abdelhammed, MD; Kathleen Schieffer, PhD
 ==WHO Classification of Disease==
@@ Line 41: / 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> <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
+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 52: / 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 70: / Line 65: @@
 |}
 ==Individual Region Genomic Gain/Loss/LOH==
-Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
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@@ Line 87: / Line 81: @@
 |}
 ==Characteristic Chromosomal or Other Global Mutational Patterns==
-Cytogenetic analysis of cultured lesional tissue identified a mosaic karyotype.<ref name=":6">{{Cite journal|last=Wei|first=Shi|last2=Pan|first2=Zenggang|last3=Siegal|first3=Gene P.|last4=Winokur|first4=Thomas S.|last5=Carroll|first5=Andrew J.|last6=Jhala|first6=Darshana|date=2012-01|title=Complex analysis of a recurrent pleomorphic hyalinizing angiectatic tumor of soft parts|url=https://pubmed.ncbi.nlm.nih.gov/21733556|journal=Human Pathology|volume=43|issue=1|pages=121–126|doi=10.1016/j.humpath.2011.02.023|issn=1532-8392|pmid=21733556}}</ref> The predominant cell line was characterized by an abnormal chromosome count of 45 and contained unbalanced translocations: a derivative chromosome 1 from a t(1;3) and a derivative chromosome 10 from a t(1;10). This was accompanied by the loss of one chromosome 3.  <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
+Cytogenetic analysis of cultured lesional tissue identified a mosaic karyotype.<ref name=":6">{{Cite journal|last=Wei|first=Shi|last2=Pan|first2=Zenggang|last3=Siegal|first3=Gene P.|last4=Winokur|first4=Thomas S.|last5=Carroll|first5=Andrew J.|last6=Jhala|first6=Darshana|date=2012-01|title=Complex analysis of a recurrent pleomorphic hyalinizing angiectatic tumor of soft parts|url=https://pubmed.ncbi.nlm.nih.gov/21733556|journal=Human Pathology|volume=43|issue=1|pages=121–126|doi=10.1016/j.humpath.2011.02.023|issn=1532-8392|pmid=21733556}}</ref> The predominant cell line was characterized by an abnormal chromosome count of 45 and contained unbalanced translocations: a derivative chromosome 1 from a t(1;3) and a derivative chromosome 10 from a t(1;10). This was accompanied by the loss of one chromosome 3.
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@@ Line 106: / Line 100: @@
 |}
 ==Gene Mutations (SNV/INDEL)==
-Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
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@@ Line 126: / Line 119: @@
 None
 ==Genes and Main Pathways Involved==
-<span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
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@@ Line 136: / 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 143: / 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
-<span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
 ==Familial Forms==
-No familial syndromes or hereditary conditions are currently known to be associated with pleomorphic hyalinizing angiectatic tumor. <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
+No familial syndromes or hereditary conditions are currently known to be associated with pleomorphic hyalinizing angiectatic tumor.
 ==Additional Information==
 None
 ==Links==
-None <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
+None
 ==References==
 <references />
-<span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
 ==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.