Compendium of Cancer Genome Aberrations

HAEM5:Chronic myeloid leukaemia: Difference between revisions

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{{DISPLAYTITLE:Chronic myeloid leukaemia}}
{{DISPLAYTITLE:Chronic myeloid leukaemia}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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Fabiola Quintero-Rivera, MD (University of California, Irvine)
Fabiola Quintero-Rivera, MD (University of California, Irvine)


__TOC__
test


test2
==WHO Classification of Disease==
==WHO Classification of Disease==


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==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"
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|WHO Essential Criteria (Genetics)*
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|-
|WHO Desirable Criteria (Genetics)*
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|-
|Other Classification
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|}
<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==
==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
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|N/A
|-
|-
|Not Recommended
|Not Recommended
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|Chronic myelogenous leukaemia; chronic granulocytic leukaemia; chronic myelocytic leukaemia
|}
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Currently four FDA approved tyrosine kinase inhibitors (TKIs) - imatinib, nilotinib, dasatinib and bosutinib - are the first line of treatment for patients with newly diagnosed CML in chronic phase (CML-CP).<ref>{{Cite journal|last=Ja|first=Kennedy|last2=G|first2=Hobbs|date=2018|title=Tyrosine Kinase Inhibitors in the Treatment of Chronic-Phase CML: Strategies for Frontline Decision-making|url=https://pubmed.ncbi.nlm.nih.gov/29687320/|language=en|doi=10.1007/s11899-018-0449-7|pmc=PMC6023770|pmid=29687320}}</ref> For many years, inhibitors of the specific BCR-ABL1 tyrosine kinase are considered to be the most effective targeted therapy. A subset of CML patients can demonstrate resistance to TKI therapy through mutations in ABL1 and other mechanisms. The culprit of the resistance to TKI therapy can be attributed to so-called leukemic stem cells (LSCs), pluripotent BCR-ABL1+ progenitors that are largely quiescent.<ref>{{Cite journal|last=S|first=Tabarestani|last2=A|first2=Movafagh|date=2016|title=New Developments in Chronic Myeloid Leukemia: Implications for Therapy|url=https://pubmed.ncbi.nlm.nih.gov/27366312/|language=en|doi=10.17795/ijcp-3961|pmc=PMC4922205|pmid=27366312}}</ref> Therefore, understanding of signaling pathways related to survival of LSCs may be helpful.  
Currently four FDA approved tyrosine kinase inhibitors (TKIs) - imatinib, nilotinib, dasatinib and bosutinib - are the first line of treatment for patients with newly diagnosed CML in chronic phase (CML-CP).<ref>{{Cite journal|last=Ja|first=Kennedy|last2=G|first2=Hobbs|date=2018|title=Tyrosine Kinase Inhibitors in the Treatment of Chronic-Phase CML: Strategies for Frontline Decision-making|url=https://pubmed.ncbi.nlm.nih.gov/29687320/|language=en|doi=10.1007/s11899-018-0449-7|pmc=PMC6023770|pmid=29687320}}</ref> For many years, inhibitors of the specific BCR-ABL1 tyrosine kinase are considered to be the most effective targeted therapy. A subset of CML patients can demonstrate resistance to TKI therapy through mutations in ABL1 and other mechanisms. The culprit of the resistance to TKI therapy can be attributed to so-called leukemic stem cells (LSCs), pluripotent BCR-ABL1+ progenitors that are largely quiescent.<ref>{{Cite journal|last=S|first=Tabarestani|last2=A|first2=Movafagh|date=2016|title=New Developments in Chronic Myeloid Leukemia: Implications for Therapy|url=https://pubmed.ncbi.nlm.nih.gov/27366312/|language=en|doi=10.17795/ijcp-3961|pmc=PMC4922205|pmid=27366312}}</ref> Therefore, understanding of signaling pathways related to survival of LSCs may be helpful.  


'''Prognosis''': Acquired resistance to imatinib therapy , mostly with mutation in BCR-ABL kinase domain, is known to be associated with poor prognosis.<ref>{{Cite journal|last=S|first=Branford|last2=Z|first2=Rudzki|last3=S|first3=Walsh|last4=I|first4=Parkinson|last5=A|first5=Grigg|last6=J|first6=Szer|last7=K|first7=Taylor|last8=R|first8=Herrmann|last9=Jf|first9=Seymour|date=2003|title=Detection of BCR-ABL Mutations in Patients With CML Treated With Imatinib Is Virtually Always Accompanied by Clinical Resistance, and Mutations in the ATP Phosphate-Binding Loop (P-loop) Are Associated With a Poor Prognosis|url=https://pubmed.ncbi.nlm.nih.gov/12623848/|language=en|pmid=12623848}}</ref> Five prognostic factors were shown to be associated with major cytogenetic response: the absence of blasts in peripheral blood, a hemoglobin level of more than 12 g per deciliter, the presence of less than 5 percent blasts in marrow, a time from diagnosis of CML to start of treatment of less than one year, and a history of cytogenetic relapse during interferon therapy.<ref>{{Cite journal|last=H|first=Kantarjian|last2=C|first2=Sawyers|last3=A|first3=Hochhaus|last4=F|first4=Guilhot|last5=C|first5=Schiffer|last6=C|first6=Gambacorti-Passerini|last7=D|first7=Niederwieser|last8=D|first8=Resta|last9=R|first9=Capdeville|date=2002|title=Hematologic and Cytogenetic Responses to Imatinib Mesylate in Chronic Myelogenous Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11870241/|language=en|pmid=11870241}}</ref>
'''Prognosis''': Acquired resistance to imatinib therapy , mostly with mutation in BCR-ABL kinase domain, is known to be associated with poor prognosis.<ref name=":1">{{Cite journal|last=S|first=Branford|last2=Z|first2=Rudzki|last3=S|first3=Walsh|last4=I|first4=Parkinson|last5=A|first5=Grigg|last6=J|first6=Szer|last7=K|first7=Taylor|last8=R|first8=Herrmann|last9=Jf|first9=Seymour|date=2003|title=Detection of BCR-ABL Mutations in Patients With CML Treated With Imatinib Is Virtually Always Accompanied by Clinical Resistance, and Mutations in the ATP Phosphate-Binding Loop (P-loop) Are Associated With a Poor Prognosis|url=https://pubmed.ncbi.nlm.nih.gov/12623848/|language=en|pmid=12623848}}</ref> Five prognostic factors were shown to be associated with major cytogenetic response: the absence of blasts in peripheral blood, a hemoglobin level of more than 12 g per deciliter, the presence of less than 5 percent blasts in marrow, a time from diagnosis of CML to start of treatment of less than one year, and a history of cytogenetic relapse during interferon therapy.<ref>{{Cite journal|last=H|first=Kantarjian|last2=C|first2=Sawyers|last3=A|first3=Hochhaus|last4=F|first4=Guilhot|last5=C|first5=Schiffer|last6=C|first6=Gambacorti-Passerini|last7=D|first7=Niederwieser|last8=D|first8=Resta|last9=R|first9=Capdeville|date=2002|title=Hematologic and Cytogenetic Responses to Imatinib Mesylate in Chronic Myelogenous Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/11870241/|language=en|pmid=11870241}}</ref>


'''Therapeutic implication''': Studies have shown that median survival  
'''Therapeutic implication''': Studies have shown that median survival  
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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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!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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{| 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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