HAEM5:Enteropathy-associated T-cell lymphoma: Difference between revisions
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{{DISPLAYTITLE:Enteropathy-associated T-cell lymphoma}} | {{DISPLAYTITLE:Enteropathy-associated T-cell lymphoma}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours ( | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
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}}</blockquote> | }}</blockquote> | ||
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], 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) | <span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], 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). 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)*== | ==Primary Author(s)*== | ||
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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 fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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| | | | ||
| | | | ||
| | |EXAMPLE | ||
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 reference). | 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 reference). | ||
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| | | | ||
| | |EXAMPLE | ||
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
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|} | |} | ||
<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH| | <blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | ||
{| class="wikitable" | {| class="wikitable" | ||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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 | Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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'')</span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
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|No | |No | ||
|No | |No | ||
| | |EXAMPLE: | ||
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | ||
|} | |} | ||
<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns| | <blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | ||
*HLA-DQ2 (HLA-DQA1*0501 and DQB1*02) homozygosity - increased (at least 5-fold) risk for RCD and EATL<ref>{{Cite journal|last=A|first=Al-Toma|last2=Ms|first2=Goerres|last3=Jw|first3=Meijer|last4=As|first4=Peña|last5=Jb|first5=Crusius|last6=Cj|first6=Mulder|date=2006|title=Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/16527694/|language=en|pmid=16527694}}</ref> | *HLA-DQ2 (HLA-DQA1*0501 and DQB1*02) homozygosity - increased (at least 5-fold) risk for RCD and EATL<ref>{{Cite journal|last=A|first=Al-Toma|last2=Ms|first2=Goerres|last3=Jw|first3=Meijer|last4=As|first4=Peña|last5=Jb|first5=Crusius|last6=Cj|first6=Mulder|date=2006|title=Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/16527694/|language=en|pmid=16527694}}</ref> | ||
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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 and common as well | 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 and common as well either disease defining and/or clinically significant. Can include references 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.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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|SETD2, TET2, YLPM1; loss of function mutations | |SETD2, TET2, YLPM1; loss of function mutations | ||
|Gene regulation | |Gene regulation | ||
| | |EXAMPLE: Increased cell growth and proliferation | ||
|- | |- | ||
|JAK1, JAK3, STAT3, STAT5B, SOCS1 | |JAK1, JAK3, STAT3, STAT5B, SOCS1 | ||
|JAK-STAT pathway | |JAK-STAT pathway | ||
| | |EXAMPLE: Unregulated cell division | ||
|- | |- | ||
| | |EXAMPLE: KMT2C and ARID1A; Inactivating mutations | ||
| | |EXAMPLE: Histone modification, chromatin remodeling | ||
| | |EXAMPLE: Abnormal gene expression program | ||
|} | |} | ||
<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved| | <blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | ||
*Chromatin modifying genes: SETD2, TET2, YLPM1; loss of function mutations<ref name=":4" /><ref name=":10">{{Cite journal|last=A|first=Nicolae|last2=L|first2=Xi|last3=Th|first3=Pham|last4=Ta|first4=Pham|last5=W|first5=Navarro|last6=Hg|first6=Meeker|last7=S|first7=Pittaluga|last8=Es|first8=Jaffe|last9=M|first9=Raffeld|date=2016|title=Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/27389054/|language=en|doi=10.1038/leu.2016.178|pmc=PMC5093023|pmid=27389054}}</ref><ref name=":11">{{Cite journal|last=G|first=Malamut|last2=R|first2=El Machhour|last3=N|first3=Montcuquet|last4=S|first4=Martin-Lannerée|last5=I|first5=Dusanter-Fourt|last6=V|first6=Verkarre|last7=Jj|first7=Mention|last8=G|first8=Rahmi|last9=H|first9=Kiyono|date=2010|title=IL-15 triggers an antiapoptotic pathway in human intraepithelial lymphocytes that is a potential new target in celiac disease-associated inflammation and lymphomagenesis|url=https://pubmed.ncbi.nlm.nih.gov/20440074/|language=en|doi=10.1172/JCI41344|pmc=PMC2877946|pmid=20440074}}</ref><ref name=":12">{{Cite journal|last=Mention|first=Jean-Jacques|last2=Ben Ahmed|first2=Mélika|last3=Bègue|first3=Bernadette|last4=Barbe|first4=Ullah|last5=Verkarre|first5=Virginie|last6=Asnafi|first6=Vahid|last7=Colombel|first7=Jean-Frédéric|last8=Cugnenc|first8=Paul-Henri|last9=Ruemmele|first9=Frank M.|date=2003-09|title=Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease|url=https://pubmed.ncbi.nlm.nih.gov/12949719|journal=Gastroenterology|volume=125|issue=3|pages=730–745|doi=10.1016/s0016-5085(03)01047-3|issn=0016-5085|pmid=12949719}}</ref> | *Chromatin modifying genes: SETD2, TET2, YLPM1; loss of function mutations<ref name=":4" /><ref name=":10">{{Cite journal|last=A|first=Nicolae|last2=L|first2=Xi|last3=Th|first3=Pham|last4=Ta|first4=Pham|last5=W|first5=Navarro|last6=Hg|first6=Meeker|last7=S|first7=Pittaluga|last8=Es|first8=Jaffe|last9=M|first9=Raffeld|date=2016|title=Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/27389054/|language=en|doi=10.1038/leu.2016.178|pmc=PMC5093023|pmid=27389054}}</ref><ref name=":11">{{Cite journal|last=G|first=Malamut|last2=R|first2=El Machhour|last3=N|first3=Montcuquet|last4=S|first4=Martin-Lannerée|last5=I|first5=Dusanter-Fourt|last6=V|first6=Verkarre|last7=Jj|first7=Mention|last8=G|first8=Rahmi|last9=H|first9=Kiyono|date=2010|title=IL-15 triggers an antiapoptotic pathway in human intraepithelial lymphocytes that is a potential new target in celiac disease-associated inflammation and lymphomagenesis|url=https://pubmed.ncbi.nlm.nih.gov/20440074/|language=en|doi=10.1172/JCI41344|pmc=PMC2877946|pmid=20440074}}</ref><ref name=":12">{{Cite journal|last=Mention|first=Jean-Jacques|last2=Ben Ahmed|first2=Mélika|last3=Bègue|first3=Bernadette|last4=Barbe|first4=Ullah|last5=Verkarre|first5=Virginie|last6=Asnafi|first6=Vahid|last7=Colombel|first7=Jean-Frédéric|last8=Cugnenc|first8=Paul-Henri|last9=Ruemmele|first9=Frank M.|date=2003-09|title=Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease|url=https://pubmed.ncbi.nlm.nih.gov/12949719|journal=Gastroenterology|volume=125|issue=3|pages=730–745|doi=10.1016/s0016-5085(03)01047-3|issn=0016-5085|pmid=12949719}}</ref> | ||