Compendium of Cancer Genome Aberrations

HAEM5:B-lymphoblastic leukaemia/lymphoma with BCR::ABL1 fusion: Difference between revisions

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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(9;22)(q34.1;q11.2); BCR-ABL1]].
<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(9;22)(q34.1;q11.2); BCR-ABL1]].
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==Primary Author(s)*==
==Primary Author(s)*==
Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG
Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
 
B-Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2) is a neoplasm of lymphoblasts committed to the B-cell lineage in which the blasts harbor a translocation between ''BCR'' at 22q11.2 and ''ABL1'' oncogene at 9q34.1. The t(9;22) results in the production of a ''BCR-ABL1'' fusion, also known as the Philadelphia chromosome (Ph+).  
 
==Synonyms / Terminology==
 
* Philadelphia chromosome
* Ph+
 
==Epidemiology / Prevalence==
 
* most common genomic alteration in adult B-ALL (25–30%)
 
* detected in only 2–4% of pediatric cases
 
==Clinical Features==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
 
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
 
<span class="blue-text">EXAMPLE:</span> Fatigue
 
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
 
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
 
 
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
 
The presenting features are generally similar to those seen in patients with other B-ALLs. Most children with B-ALL with ''BCR-ABL1'' are considered to have high risk on the basis of age and white blood cell count (WBC). Patients tend to have a high WBC count at presentation, and although they may have organ involvement, lymphomatous presentations are rare.
 
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Sites of Involvement==
 
Bone marrow
 
==Morphologic Features==
 
Put your text here
 
==Immunophenotype==
 
Put your text here and/or fill in the table


{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||CD10, CD19 and TdT
|-
|Positive (subset)||CD13, CD33 and CD25 (in adults)
|-
|Negative (universal)||KIT (CD117)
|-
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|Philadelphia chromosome–positive (Ph+) B-ALL/LBL
|}
|}


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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>
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>


Put your text here and/or fill in the table
Put your text here and/or fill in the table
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''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>
|<span class="blue-text">EXAMPLE:</span>
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<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>


The most common accompanying chromosomal abnormalities include monosomy 7 (including deletion of the IKZF1 gene) (18%), monosomy 9 or 9p deletion (9%), and gain of 1q (8%).  
The most common accompanying chromosomal abnormalities include monosomy 7 (including deletion of the IKZF1 gene) (18%), monosomy 9 or 9p deletion (9%), and gain of 1q (8%).  
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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''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>
|<span class="blue-text">EXAMPLE:</span>
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<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>


The t(9;22) results in the production of a BCR-ABL1 fusion protein. The majority of pediatric and half of adult t(9;22) positive B-ALL involve the minor breakpoint cluster region (m-bcr) encoding a smaller p190 fusion protein in contrast to chronic myelogenous leukemia (CML), where it involves the major breakpoint cluster region (M-bcr). <ref>{{Cite journal|last=Woo|first=Jennifer S.|last2=Alberti|first2=Michael O.|last3=Tirado|first3=Carlos A.|date=2014|title=Childhood B-acute lymphoblastic leukemia: a genetic update|url=https://pubmed.ncbi.nlm.nih.gov/24949228|journal=Experimental Hematology & Oncology|volume=3|pages=16|doi=10.1186/2162-3619-3-16|issn=2162-3619|pmc=4063430|pmid=24949228}}</ref>
The t(9;22) results in the production of a BCR-ABL1 fusion protein. The majority of pediatric and half of adult t(9;22) positive B-ALL involve the minor breakpoint cluster region (m-bcr) encoding a smaller p190 fusion protein in contrast to chronic myelogenous leukemia (CML), where it involves the major breakpoint cluster region (M-bcr). <ref>{{Cite journal|last=Woo|first=Jennifer S.|last2=Alberti|first2=Michael O.|last3=Tirado|first3=Carlos A.|date=2014|title=Childhood B-acute lymphoblastic leukemia: a genetic update|url=https://pubmed.ncbi.nlm.nih.gov/24949228|journal=Experimental Hematology & Oncology|volume=3|pages=16|doi=10.1186/2162-3619-3-16|issn=2162-3619|pmc=4063430|pmid=24949228}}</ref>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''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''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
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|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>


''BCR'' and ''ABL1''
''BCR'' and ''ABL1''
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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


* Clinical testing for the ''BCR-ABL1'' fusion includes conventional chromosome studies, dual color, dual fusion FISH analysis and RT- PCR.  
*Clinical testing for the ''BCR-ABL1'' fusion includes conventional chromosome studies, dual color, dual fusion FISH analysis and RT- PCR.
* FISH results can be available within 24 h and should be considered as the first line test.
*FISH results can be available within 24 h and should be considered as the first line test.
* Quantitative RT-PCR can detect specific transcripts at a higher sensitivity, and important at follow up to determine disease status and degree of response.  
*Quantitative RT-PCR can detect specific transcripts at a higher sensitivity, and important at follow up to determine disease status and degree of response.
* Conventional cytogenetics can also detect variant translocations, additional Philadelphia chromosome resulting in gain of 9q and 22q as well as trisomy 8, and a hyperdiploid karyotype.
*Conventional cytogenetics can also detect variant translocations, additional Philadelphia chromosome resulting in gain of 9q and 22q as well as trisomy 8, and a hyperdiploid karyotype.
* CMA cannot detect balanced rearrangements such as t(9;22) but it can detect additional copy number abnormalities.  
*CMA cannot detect balanced rearrangements such as t(9;22) but it can detect additional copy number abnormalities.
* An average of 7.8 lesions per case were observed by using CMA in adults with Ph + B-ALL.<ref>{{Cite journal|last=Fedullo|first=Anna Lucia|last2=Messina|first2=Monica|last3=Elia|first3=Loredana|last4=Piciocchi|first4=Alfonso|last5=Gianfelici|first5=Valentina|last6=Lauretti|first6=Alessia|last7=Soddu|first7=Stefano|last8=Puzzolo|first8=Maria Cristina|last9=Minotti|first9=Clara|date=02 2019|title=Prognostic implications of additional genomic lesions in adult Philadelphia chromosome-positive acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/30190342|journal=Haematologica|volume=104|issue=2|pages=312–318|doi=10.3324/haematol.2018.196055|issn=1592-8721|pmc=6355475|pmid=30190342}}</ref>
*An average of 7.8 lesions per case were observed by using CMA in adults with Ph + B-ALL.<ref>{{Cite journal|last=Fedullo|first=Anna Lucia|last2=Messina|first2=Monica|last3=Elia|first3=Loredana|last4=Piciocchi|first4=Alfonso|last5=Gianfelici|first5=Valentina|last6=Lauretti|first6=Alessia|last7=Soddu|first7=Stefano|last8=Puzzolo|first8=Maria Cristina|last9=Minotti|first9=Clara|date=02 2019|title=Prognostic implications of additional genomic lesions in adult Philadelphia chromosome-positive acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/30190342|journal=Haematologica|volume=104|issue=2|pages=312–318|doi=10.3324/haematol.2018.196055|issn=1592-8721|pmc=6355475|pmid=30190342}}</ref>


==Familial Forms==
==Familial Forms==
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(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 />
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'''
<br />


==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “B-lymphoblastic leukaemia/lymphoma with BCR::ABL1 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_BCR::ABL1_fusion</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “B-lymphoblastic leukaemia/lymphoma with BCR::ABL1 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_BCR::ABL1_fusion</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases B]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases B]]
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