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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 Tumours (Who Classification, 5th ed.)]] | | [[STBT5:Table_of_Contents|Soft Tissue and Bone Tumors (Who Classification, 5th ed.)]] |
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| {{Under Construction}}
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| <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>
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| ==Primary Author(s)*== | | ==Primary Author(s)*== |
| Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
| | Mokhtar Abdelhammed, MD; Kathleen Schieffer, PhD |
| ==WHO Classification of Disease== | | ==WHO Classification of Disease== |
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| |Book | | |Book |
| |Soft Tissue and Bone Tumours (5th ed.) | | |Soft Tissue and Bone Tumors (5th ed.) |
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| |Category | | |Category |
| |Soft tissue tumours | | |Soft tissue tumors |
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| |Family | | |Family |
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| |Type | | |Type |
| |Pleomorphic hyalinizing angiectatic tumour of soft parts | | |Pleomorphic hyalinizing angiectatic tumor of soft parts |
| |- | | |- |
| |Subtype(s) | | |Subtype(s) |
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| |+ | | |+ |
| |Acceptable | | |Acceptable |
| |Haemosiderotic fibrolipomatous tumour; early pleomorphic hyalinizing angiectatic tumour | | |N/A |
| |- | | |- |
| |Not Recommended | | |Not Recommended |
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| ==Gene Rearrangements== | | ==Gene Rearrangements== |
| Put your text here and fill in the table <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" | | {| class="wikitable sortable" |
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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2) | | |''TGFBR3'' |
| |<span class="blue-text">EXAMPLE:</span> Common (CML)
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| |<span class="blue-text">EXAMPLE:</span> D, P, T
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| |<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
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| |<span class="blue-text">EXAMPLE:</span>
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| The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
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| |<span class="blue-text">EXAMPLE:</span> ''CIC''
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| |<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
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| |<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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| |<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
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| |<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
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| |<span class="blue-text">EXAMPLE:</span> D
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| |<span class="blue-text">EXAMPLE:</span>
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| ''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
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| |-
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| |<span class="blue-text">EXAMPLE:</span> ''ALK''
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| |<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
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| Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
| | ''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> |
| |<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
| | |
| |<span class="blue-text">EXAMPLE:</span> N/A
| | ''FBXW4''<ref name=":5" /> |
| |<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
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| |<span class="blue-text">EXAMPLE:</span> T
| | |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" /> |
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| |<span class="blue-text">EXAMPLE:</span>
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| Both balanced and unbalanced forms are observed by FISH (add references).
| | 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" /> |
| |<span class="blue-text">EXAMPLE:</span> ''ABL1''
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> N/A | | |D |
| |<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. | | |Yes (WHO) |
| |<span class="blue-text">EXAMPLE:</span> N/A
| | |The t(1;10) with ''TGFBR3'' rearrangement is a recurrent genetic event in PHAT and can be a useful diagnostic marker, particularly in challenging cases.<ref name=":0" /><ref name=":1" /><ref name=":3" /><ref name=":4" /> |
| |<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
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| |<span class="blue-text">EXAMPLE:</span> D, P, T
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| ==Individual Region Genomic Gain/Loss/LOH== | | ==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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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> | | |N/A |
| 7
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> Loss | | |N/A |
| |<span class="blue-text">EXAMPLE:</span>
| | |N/A |
| chr7
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> | | |N/A |
| Unknown
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> D, P | |
| |<span class="blue-text">EXAMPLE:</span> No | |
| |<span class="blue-text">EXAMPLE:</span> | |
| Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
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| |- | |
| |<span class="blue-text">EXAMPLE:</span>
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| 8
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| |<span class="blue-text">EXAMPLE:</span> Gain
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| |<span class="blue-text">EXAMPLE:</span>
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| chr8
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| |<span class="blue-text">EXAMPLE:</span>
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| Unknown
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| |<span class="blue-text">EXAMPLE:</span> D, P
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| |<span class="blue-text">EXAMPLE:</span>
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| Common recurrent secondary finding for t(8;21) (add references).
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| |-
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| |<span class="blue-text">EXAMPLE:</span>
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| 17
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| |<span class="blue-text">EXAMPLE:</span> Amp
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| |<span class="blue-text">EXAMPLE:</span>
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| 17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
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| |<span class="blue-text">EXAMPLE:</span>
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| ''ERBB2''
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| |<span class="blue-text">EXAMPLE:</span> D, P, T
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| |<span class="blue-text">EXAMPLE:</span>
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| Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
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| ==Characteristic Chromosomal or Other Global Mutational Patterns== | | ==Characteristic Chromosomal or Other Global Mutational Patterns== |
| Put your text here and fill in the table <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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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
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| |<span class="blue-text">EXAMPLE:</span> | | |Complex Karyotype |
| Co-deletion of 1p and 18q
| | |Associated with the t(1;10) translocation; often includes other abnormalities including deletions or rearrangements involving chromosomes 1 and 3.<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":6" /> |
| |<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | | |N/A |
| |<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
| | |Unknown |
| |<span class="blue-text">EXAMPLE:</span> D, P
| | |No |
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| | |The karyotype is often complex in addition to the t(1;10). |
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| |<span class="blue-text">EXAMPLE:</span>
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| Microsatellite instability - hypermutated
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| |<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
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| |<span class="blue-text">EXAMPLE:</span> P, T | |
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| |} | | |} |
| ==Gene Mutations (SNV/INDEL)== | | ==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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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
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| |<span class="blue-text">EXAMPLE:</span>''EGFR'' | | |N/A |
| | | |N/A |
| <br />
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> Oncogene
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> T
| | |N/A |
| |<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
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| |<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
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| |<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
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| |<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
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| |<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
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| |<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
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| |<span class="blue-text">EXAMPLE:</span> P
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| |<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer. | |
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| |<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations | |
| |<span class="blue-text">EXAMPLE:</span> Activating mutations | |
| |<span class="blue-text">EXAMPLE:</span> Oncogene | |
| |<span class="blue-text">EXAMPLE:</span> Common (melanoma) | |
| |<span class="blue-text">EXAMPLE:</span> T | |
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| |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | | |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. |
| ==Epigenomic Alterations== | | ==Epigenomic Alterations== |
| Put your text here
| | None |
| ==Genes and Main Pathways Involved== | | ==Genes and Main Pathways Involved== |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
| |- | | |- |
| !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations | | |''TGFBR3''; Rearrangement (with ''FBXW4'' or ''OGA'' (''MGEA5'')) |
| |<span class="blue-text">EXAMPLE:</span> MAPK signaling
| | |Growth Factor Signaling |
| |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
| | |Potential upregulation of pro-proliferative signals contributing to tumorigenesis |
| |-
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| |<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
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| |<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
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| |<span class="blue-text">EXAMPLE:</span> Unregulated cell division
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| |-
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| |<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
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| |<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling | |
| |<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program | |
| |-
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| |} | | |} |
| ==Genetic Diagnostic Testing Methods== | | ==Genetic Diagnostic Testing Methods== |
| Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
| | '''1. Fluorescence ''in situ'' hybridization (FISH)''' |
| | |
| | - Break apart probes for ''TGFBR3'' on 1p22 is a method to detect the rearrangement in PHAT |
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| | - In cases with atypical features, FISH can serve as a diagnostic tool |
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| | '''2. Targeted RNA-sequencing''' |
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| | - Can provide a more precise identification of fusion partners involved in the t(1;10) translocation |
| ==Familial Forms== | | ==Familial Forms== |
| Put your text here <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== | | ==Additional Information== |
| Put your text here
| | None |
| ==Links== | | ==Links== |
| Put a link here or anywhere appropriate in this page <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== |
| (use the "Cite" icon at the top of the page) <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>
| | <references /> |
| ==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. |
