Compendium of Cancer Genome Aberrations

STBT5:Infantile fibrosarcoma: Difference between revisions

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{{DISPLAYTITLE:Infantile fibrosarcoma}}
{{DISPLAYTITLE:Infantile fibrosarcoma}}
[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]
 
W[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]


{{Under Construction}}
{{Under Construction}}
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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)
|''NTRK3''||''ETV6''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||t(12;15)(p13;q25)
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|Common
|<span class="blue-text">EXAMPLE:</span> D, P, T
|D, T
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|Yes (WHO, NCCN)
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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).
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).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''CIC''
|''NTRK3''
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|''EML4''
|<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''.
|<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''.
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
|Recurrent
|<span class="blue-text">EXAMPLE:</span> D
|D, T
|
|Yes (WHO)
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>


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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>
Whole chromosome gain of 8, 11, 17, and 20 (in various combinations) are commonly observed in infantile fibrosarcoma.  
{| 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>
|8
7
|Gain
|<span class="blue-text">EXAMPLE:</span> Loss
|Whole chromosome 8
|<span class="blue-text">EXAMPLE:</span>
|Unknown
chr7
|D
|<span class="blue-text">EXAMPLE:</span>
|No
Unknown
|Whole chromosome gain of 8 is commonly observed in infantile fibrosarcoma<ref name=":0">{{Cite journal|last=Sandberg|first=Avery A.|last2=Bridge|first2=Julia A.|date=2002-01-01|title=Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: congenital (infantile) fibrosarcoma and mesoblastic nephroma|url=https://pubmed.ncbi.nlm.nih.gov/11801301|journal=Cancer Genetics and Cytogenetics|volume=132|issue=1|pages=1–13|doi=10.1016/s0165-4608(01)00528-3|issn=0165-4608|pmid=11801301}}</ref><ref name=":1">{{Cite journal|last=Rubin|first=B. P.|last2=Chen|first2=C. J.|last3=Morgan|first3=T. W.|last4=Xiao|first4=S.|last5=Grier|first5=H. E.|last6=Kozakewich|first6=H. P.|last7=Perez-Atayde|first7=A. R.|last8=Fletcher|first8=J. A.|date=1998-11|title=Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma|url=https://pubmed.ncbi.nlm.nih.gov/9811336|journal=The American Journal of Pathology|volume=153|issue=5|pages=1451–1458|doi=10.1016/S0002-9440(10)65732-X|issn=0002-9440|pmc=1853403|pmid=9811336}}</ref><ref name=":2">{{Cite journal|last=Davis|first=Jessica L.|last2=Lockwood|first2=Christina M.|last3=Albert|first3=Catherine M.|last4=Tsuchiya|first4=Karen|last5=Hawkins|first5=Douglas S.|last6=Rudzinski|first6=Erin R.|date=2018|title=Infantile NTRK-associated Mesenchymal Tumors|url=https://pubmed.ncbi.nlm.nih.gov/28683589|journal=Pediatric and Developmental Pathology: The Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|volume=21|issue=1|pages=68–78|doi=10.1177/1093526617712639|issn=1093-5266|pmid=28683589}}</ref><ref name=":3">{{Cite journal|last=Church|first=Alanna J.|last2=Calicchio|first2=Monica L.|last3=Nardi|first3=Valentina|last4=Skalova|first4=Alena|last5=Pinto|first5=Andre|last6=Dillon|first6=Deborah A.|last7=Gomez-Fernandez|first7=Carmen R.|last8=Manoj|first8=Namitha|last9=Haimes|first9=Josh D.|date=2018-03|title=Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy|url=https://pubmed.ncbi.nlm.nih.gov/29099503|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=31|issue=3|pages=463–473|doi=10.1038/modpathol.2017.127|issn=1530-0285|pmid=29099503}}</ref>
|<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).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|11
8
|Gain
|<span class="blue-text">EXAMPLE:</span> Gain
|Whole chromosome 11
|<span class="blue-text">EXAMPLE:</span>
|Unknown
chr8
|D
|<span class="blue-text">EXAMPLE:</span>
|No
Unknown
|Whole chromosome gain of 11 is commonly observed in infantile fibrosarcoma<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" />
|<span class="blue-text">EXAMPLE:</span> D, P
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|17
17
|Gain
|<span class="blue-text">EXAMPLE:</span> Amp
|Whole chromosome 17
|<span class="blue-text">EXAMPLE:</span>
|Unknown
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|D
|<span class="blue-text">EXAMPLE:</span>
|No
''ERBB2''
|Whole chromosome gain of 17 is commonly observed in infantile fibrosarcoma<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" />
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span>
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
|-
|-
|
|20
|
|Gain
|
|Whole chromosome 20
|
|Unknown
|
|D
|
|No
|
|Whole chromosome gain of 20 is commonly observed in infantile fibrosarcoma<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" />
|}
|}
==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>
None
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|<span class="blue-text">EXAMPLE:</span>
Co-deletion of 1p and 18q
|<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).
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|<span class="blue-text">EXAMPLE:</span> D, P
|
|
|-
|<span class="blue-text">EXAMPLE:</span>
Microsatellite instability - hypermutated
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<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>
None
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
<br />
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<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).
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|<span class="blue-text">EXAMPLE:</span> P
|
|<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.
|-
|<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>
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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|}
|}
==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>
 
* Fusion testing
** 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
** Whole transcriptome RNA-sequencing
*** Provides an unbiased approach to fusion calling
* Fluorescence ''in situ'' hybridization (FISH)
** Break apart probes for ''ETV6'' and/or ''NTRK3'' will identify a rearrangement (''ETV6::NTRK3'') present in the majority of infantile fibrosarcoma
* Karyotyping - can identify
 
==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>
None
==Additional Information==
==Additional Information==
Put your text here
Put your text here
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Prior Author(s):
Prior Author(s):
<nowiki>*</nowiki>''Citation of this Page'': “Infantile fibrosarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Infantile fibrosarcoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Infantile fibrosarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Infantile fibrosarcoma</nowiki>.
[[Category:STBT5]][[Category:DISEASE]][[Category:Diseases I]]
[[Category:STBT5]]
[[Category:DISEASE]]
[[Category:Diseases I]]
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