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| {{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion}} | | {{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion}}[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | |
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| {{Under Construction}}
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| <blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:B-Lymphoblastic Leukemia/Lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1]].
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| }}</blockquote>
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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)*== |
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| {| class="wikitable" | | {| class="wikitable" |
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| |Acceptable | | |Acceptable |
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| ==Gene Rearrangements== | | ==Gene Rearrangements== |
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| 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>
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| |No (NCCN) | | |No (NCCN) |
| |There may be an increased relative risk of CNS relapse in these patients<ref>{{Cite journal|last=Jeha|first=S.|last2=Pei|first2=D.|last3=Raimondi|first3=S. C.|last4=Onciu|first4=M.|last5=Campana|first5=D.|last6=Cheng|first6=C.|last7=Sandlund|first7=J. T.|last8=Ribeiro|first8=R. C.|last9=Rubnitz|first9=J. E.|date=2009-08|title=Increased risk for CNS relapse in pre-B cell leukemia with the t(1;19)/TCF3-PBX1|url=https://pubmed.ncbi.nlm.nih.gov/19282835|journal=Leukemia|volume=23|issue=8|pages=1406–1409|doi=10.1038/leu.2009.42|issn=1476-5551|pmc=2731684|pmid=19282835}}</ref>. Relapsed patients appear to have a dismal prognosis. | | |There may be an increased relative risk of CNS relapse in these patients<ref>{{Cite journal|last=Jeha|first=S.|last2=Pei|first2=D.|last3=Raimondi|first3=S. C.|last4=Onciu|first4=M.|last5=Campana|first5=D.|last6=Cheng|first6=C.|last7=Sandlund|first7=J. T.|last8=Ribeiro|first8=R. C.|last9=Rubnitz|first9=J. E.|date=2009-08|title=Increased risk for CNS relapse in pre-B cell leukemia with the t(1;19)/TCF3-PBX1|url=https://pubmed.ncbi.nlm.nih.gov/19282835|journal=Leukemia|volume=23|issue=8|pages=1406–1409|doi=10.1038/leu.2009.42|issn=1476-5551|pmc=2731684|pmid=19282835}}</ref>. Relapsed patients appear to have a dismal prognosis. |
| Although the t(1;19) translocation can be readily detected by conventional chromosome studies, FISH confirmation is often needed since a karyotypically similar t(1;19) without involvement of TCF3 or PBX1 has been reported<ref name=":0" />. | | Although the t(1;19) translocation can be readily detected by conventional chromosome studies, FISH confirmation is often needed since a karyotypically similar t(1;19) without involvement of TCF3 or PBX1 has been reported<ref name=":0">{{Cite journal|last=Akkari|first=Yassmine M. N.|last2=Bruyere|first2=Helene|last3=Hagelstrom|first3=R. Tanner|last4=Kanagal-Shamanna|first4=Rashmi|last5=Liu|first5=Jie|last6=Luo|first6=Minjie|last7=Mikhail|first7=Fady M.|last8=Pitel|first8=Beth A.|last9=Raca|first9=Gordana|date=05 2020|title=Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/32302940|journal=Cancer Genetics|volume=243|pages=52–72|doi=10.1016/j.cancergen.2020.03.001|issn=2210-7762|pmid=32302940}}</ref>. |
| |}
| | |}The breakpoints of the t(1;19) translocation typically fall within intron 16 of ''TCF3'' and intron 3 of ''PBX1''. <ref name=":0" /> |
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| <blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
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| The breakpoints of the t(1;19) translocation typically fall within intron 16 of ''TCF3'' and intron 3 of ''PBX1''. <ref name=":0">{{Cite journal|last=Akkari|first=Yassmine M. N.|last2=Bruyere|first2=Helene|last3=Hagelstrom|first3=R. Tanner|last4=Kanagal-Shamanna|first4=Rashmi|last5=Liu|first5=Jie|last6=Luo|first6=Minjie|last7=Mikhail|first7=Fady M.|last8=Pitel|first8=Beth A.|last9=Raca|first9=Gordana|date=05 2020|title=Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/32302940|journal=Cancer Genetics|volume=243|pages=52–72|doi=10.1016/j.cancergen.2020.03.001|issn=2210-7762|pmid=32302940}}</ref>
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| {| class="wikitable sortable"
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| !Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
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| |t(1;19)(q23;p13.3)||TCF3-PBX1||der(19)||More common (75%) | |
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| |t(1;19)(q23;p13.3)
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| |TCF3-PBX1||Balanced translocation||Less common
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| <blockquote class="blockedit"></blockquote>
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| ----
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| ==Individual Region Genomic Gain/Loss/LOH== | | ==Individual Region Genomic Gain/Loss/LOH== |
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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
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| |<span class="blue-text">EXAMPLE:</span> | | |N/A |
| 7
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| |<span class="blue-text">EXAMPLE:</span> Loss
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| |<span class="blue-text">EXAMPLE:</span>
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| chr7
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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> No
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| |<span class="blue-text">EXAMPLE:</span>
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| 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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| |<span class="blue-text">EXAMPLE:</span> Gain
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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> | |
| Common recurrent secondary finding for t(8;21) (add references).
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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 | |
| |<span class="blue-text">EXAMPLE:</span> | |
| 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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| ----
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| ==Characteristic Chromosomal or Other Global Mutational Patterns== | | ==Characteristic Chromosomal or Other Global Mutational Patterns== |
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| [[PBX1]] | | [[PBX1]] |
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| Put your links here (use "Link" icon at top of page)
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| ==References== | | ==References== |
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| ==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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | | <nowiki>*</nowiki>''Citation of this Page'': Mancera MG. “B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:B_lymphoblastic_leukaemia/lymphoma_with_TCF3::PBX1_fusion</nowiki>. |
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| | <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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. |
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| <references />
| | Prior authors: Binu Porath, PhD; Linda D. Cooley, MD, MBA |
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| <nowiki>*</nowiki>''Citation of this Page'': “B lymphoblastic leukaemia/lymphoma with TCF3::PBX1 fusion”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:B_lymphoblastic_leukaemia/lymphoma_with_TCF3::PBX1_fusion</nowiki>.
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| [[Category:HAEM5]] | | [[Category:HAEM5]] |
| [[Category:DISEASE]] | | [[Category:DISEASE]] |
| [[Category:Diseases B]] | | [[Category:Diseases B]] |
