HAEM5:B lymphoblastic leukaemia/lymphoma with TCF3::HLF fusion: Difference between revisions
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==Gene Rearrangements== | ==Gene Rearrangements== | ||
B lymphoblastic leukaemia/lymphoma (B-ALL) with t(17;19)(q22;p13), resulting in the TCF3::HLF gene fusion, is newly recognized as a distinct entity in the WHO 5th edition classification. TCF3 rearrangements are identified in approximately 5–11% of B-ALL cases, with several fusion partners reported, including PBX1, HLF, and ZNF384. B-ALL with TCF3::PBX1 fusion is also classified as a separate entity in the latest WHO edition<ref>WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at WHO Classification of Tumours</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> | |||
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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| | |''TCF3''||''TCF3 (E2A)::HLF''||The pathogenic derivative is the der(19) resulting in fusion of 5’ TCF3 and 3’HLF.||t(17;19)(q22;p13) | ||
| | |Rare | ||
| | |D, P | ||
| | |Yes (WHO, NCCN) | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
* This ALL subtype is classified based on the presence of a t(17;19)(q22;p13), which results in fusion of the 5’ portion of ''TCF3'' at “19p13” and the 3’ portion of ''HLF'' at “17q22”. | |||
* Two distinct types of TCF3::HLF gene fusion have been identified<ref>{{Cite journal|last=Hunger|first=S. P.|last2=Devaraj|first2=P. E.|last3=Foroni|first3=L.|last4=Secker-Walker|first4=L. M.|last5=Cleary|first5=M. L.|date=1994-05-15|title=Two types of genomic rearrangements create alternative E2A-HLF fusion proteins in t(17;19)-ALL|url=https://pubmed.ncbi.nlm.nih.gov/8180393|journal=Blood|volume=83|issue=10|pages=2970–2977|issn=0006-4971|pmid=8180393}}</ref><ref>{{Cite journal|last=Panagopoulos|first=Ioannis|last2=Micci|first2=Francesca|last3=Thorsen|first3=Jim|last4=Haugom|first4=Lisbeth|last5=Tierens|first5=Anne|last6=Ulvmoen|first6=Aina|last7=Heim|first7=Sverre|date=2012-12|title=A novel TCF3-HLF fusion transcript in acute lymphoblastic leukemia with a t(17;19)(q22;p13)|url=https://pubmed.ncbi.nlm.nih.gov/23181981|journal=Cancer Genetics|volume=205|issue=12|pages=669–672|doi=10.1016/j.cancergen.2012.10.004|issn=2210-7762|pmid=23181981}}</ref><ref>{{Cite journal|last=Lejman|first=Monika|last2=Włodarczyk|first2=Monika|last3=Zawitkowska|first3=Joanna|last4=Kowalczyk|first4=Jerzy R.|date=2020-04-03|title=Comprehensive chromosomal aberrations in a case of a patient with TCF3-HLF-positive BCP-ALL|url=https://pubmed.ncbi.nlm.nih.gov/32245383|journal=BMC medical genomics|volume=13|issue=1|pages=58|doi=10.1186/s12920-020-0709-y|issn=1755-8794|pmc=7118981|pmid=32245383}}</ref>. | |||
** Type 1: TCF3 (NM_003200.3) exon 16 fused to HLF (NM_002126.4) exon 4 | |||
** Type 2: TCF3 exon 15 fused to HLF exon 4 | |||
* This subtype is associated with extremely poor prognosis, high resistance to traditional treatment, and early relapse. | |||
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|<span class="blue-text">EXAMPLE:</span> ''CIC'' | |<span class="blue-text">EXAMPLE:</span> ''CIC'' | ||
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Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span> | Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span> | ||
==Familial Forms== | ==Familial Forms== | ||
Not applicable. | |||
==Additional Information== | ==Additional Information== | ||
Put your text here | Put your text here | ||
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==References== | ==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> | (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> | ||