HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1-like features: Difference between revisions
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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| | |Chromosome X/Y cryptic deletion or translocation | ||
|These changes cause ''CRLF2'' overexpression; CRFL2 and its cofactor IL7RA form a receptor for thymic stromal-derived lymphopoietin, upregulating the JAK-STAT pathway. | |||
|Common (>20%) | |||
| | |P | ||
| | |No | ||
| | |Chromosome X/Y abnormalities include either translocation of the immunoglobin heavy chain enhance locus into ''CRLF2'' (''IGH''::''CRLF2''—more commonly seen in adults) or a cryptic deletion involving the PAR1 psuedoautosomal region, resulting in fusion of ''CRLF2'' and ''P2RY8'' (more commonly seen in children); these alterations involving ''CRLF2'' have been associated with poor survival;<ref name=":7">{{Cite journal|last=Konoplev|first=Sergej|last2=Lu|first2=Xinyan|last3=Konopleva|first3=Marina|last4=Jain|first4=Nitin|last5=Ouyang|first5=Juan|last6=Goswami|first6=Maitrayee|last7=Roberts|first7=Kathryn G.|last8=Valentine|first8=Marc|last9=Mullighan|first9=Charles G.|date=2017|title=CRLF2-Positive B-Cell Acute Lymphoblastic Leukemia in Adult Patients: A Single-Institution Experience|url=https://www.ncbi.nlm.nih.gov/pubmed/28340183|journal=American Journal of Clinical Pathology|volume=147|issue=4|pages=357–363|doi=10.1093/ajcp/aqx005|issn=1943-7722|pmid=28340183}}</ref> | ||
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|- | |- | ||
| | |Extra or iAMP21 | ||
|These changes stem from telomere attrition that result in the amplification of all or a region on chromosome 21. | |||
| | |||
|Rare (<5%) | |Rare (<5%) | ||
|< | |Unknown | ||
|No | |||
|Deletion of ''PAX5'' results in altered B-cell development.<ref name=":4" /> | |||
|} | |} | ||
[Abnormal FISH results in interphase nuclei from a bone marrow sample using the ''CRLF2'' dual-color, break-apart (Cytocell) and ''IGH'' dual-color, break-apart probes, reflective of ''IGH''::''CRLF2'' rearrangement] | |||
[[File:FISH 1.jpg|thumb|none]] | [[File:FISH 1.jpg|thumb|none]] | ||
[[File:FISH 2.jpg|thumb|none|link=Special:FilePath/FISH_2.jpg]] | [[File:FISH 2.jpg|thumb|none|link=Special:FilePath/FISH_2.jpg]] | ||
[ | |||
[Concurrent abnormal karyotype with trisomy 21 and a translocation involving chromosomes X, 14, and 2 in 9 of 13 cells available for analysis; metaphase FISH with the ''IGH'' break-apart probe (Vysis) confirms the presence of 5’ ''IGH'' (green signal) on the abnormal chromosome Xp33.1 (''CRLF2'' locus), highly suggestive on an ''IGH''::''CRLF2'' fusion rearrangement: 47,XX,+21c[4]/47,idem,der(X)t(X;14)(p33.1;q32),der(2)t(2;14)(p11.2;q11.2)t(X;14),der(14)t(2;14)[5]/46,XX[4].ish der(X)(5’IGH+),der(2)(3’IGH+)] | |||
[[File:FISH 3.jpg|thumb|none]] | [[File:FISH 3.jpg|thumb|none]] | ||
[[File:Karyotype.jpg|thumb|none]] | [[File:Karyotype.jpg|thumb|none]] | ||
(Images courtesy of Fabiola Quintero-Rivera, MD) | (Images courtesy of Fabiola Quintero-Rivera, MD) | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
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|''CRLF2'' overexpression; mutations of ''CRLF2'', ''JAK1'', ''IL7R, SH2B3, IL2RB, and TYK2''; ''JAK2'' and ''EPOR'' rearrangements | |''CRLF2'' overexpression; mutations of ''CRLF2'', ''JAK1'', ''IL7R, SH2B3, IL2RB, and TYK2''; ''JAK2'' and ''EPOR'' rearrangements | ||
|JAK-STAT signaling | |JAK-STAT signaling | ||
| | |These result in upregulation of the JAK2-signal transducer and upregulates the transcription 5 pathway<ref name=":8" />; other mutations not in ''CRLF2'' and ''IL7R'' result in constitutive JAK/STAT activation downstream of CRLF2. | ||
|- | |- | ||
|''IKZF1'' deletion | |''IKZF1'' deletion | ||
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==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 /> | (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== | ||