HAEM5:Myelodysplastic/myeloproliferative neoplasm, NOS: Difference between revisions
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{{DISPLAYTITLE:Myelodysplastic/myeloproliferative neoplasm, NOS}} | {{DISPLAYTITLE:Myelodysplastic/myeloproliferative neoplasm, NOS}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
<blockquote class= | <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:Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN), Unclassifiable]]. | ||
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==WHO Essential and Desirable Genetic Diagnostic Criteria== | ==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> | <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> | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
*None identified | *None identified | ||
*''BCR-ABL1'' fusion should be excluded | *''BCR-ABL1'' fusion should be excluded | ||
*Absence of ''PDGFRA'', ''PDGFRB'' and ''FGFR1'' rearrangements, absence of ''PCM1-JAK2'' fusion <ref name=":0" /> | *Absence of ''PDGFRA'', ''PDGFRB'' and ''FGFR1'' rearrangements, absence of ''PCM1-JAK2'' fusion <ref name=":0">Orazi A, et al., (2017). Myelodysplastic / myeloproliferative neoplasm, unclassifiable, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p95-96.</ref> | ||
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<blockquote class= | <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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*Prognosis is variable and not well documented <ref name=":0" /> | *Prognosis is variable and not well documented <ref name=":0" /> | ||
*There are few data regarding an appropriate prognostic scoring system <ref name=":0" />, but IPSS-R <ref name=":2" />or IPSS <ref name=":5" /> have been prognostically useful | *There are few data regarding an appropriate prognostic scoring system <ref name=":0" />, but IPSS-R <ref name=":2">{{Cite journal|last=P|first=Bose|last2=A|first2=Nazha|last3=Rs|first3=Komrokji|last4=Kp|first4=Patel|last5=Sa|first5=Pierce|last6=N|first6=Al-Ali|last7=A|first7=Sochacki|last8=A|first8=Shaver|last9=W|first9=Ma|date=2018|title=Mutational landscape of myelodysplastic/myeloproliferative neoplasm-unclassifiable|url=https://pubmed.ncbi.nlm.nih.gov/30242087/|language=en|doi=10.1182/blood-2018-05-848473|pmc=PMC6236463|pmid=30242087}}</ref>or IPSS <ref name=":5" /> have been prognostically useful | ||
*Median overall survival (OS) from various reports: 80 months <ref name=":3" />; 21.8 months <ref name=":4" />; 12 months <ref name=":2" /> | *Median overall survival (OS) from various reports: 80 months <ref name=":3">{{Cite journal|last=L|first=Palomo|last2=M|first2=Meggendorfer|last3=S|first3=Hutter|last4=S|first4=Twardziok|last5=V|first5=Adema|last6=I|first6=Fuhrmann|last7=F|first7=Fuster-Tormo|last8=B|first8=Xicoy|last9=L|first9=Zamora|date=2020|title=Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/32573691/|language=en|pmid=32573691}}</ref>; 21.8 months <ref name=":4" />; 12 months <ref name=":2" /> | ||
*Leukaemia-free survival: 18.9 months <ref name=":4" />; 10.8 months <ref name=":2" /> | *Leukaemia-free survival: 18.9 months <ref name=":4" />; 10.8 months <ref name=":2" /> | ||
*Leukaemic transformation: 10% <ref name=":3" />; 16% after a median of 10.8 months <ref name=":2" />; | *Leukaemic transformation: 10% <ref name=":3" />; 16% after a median of 10.8 months <ref name=":2" />; | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
One study identified very few recurrent gains and losses below the level of cytogenetic detection <ref name=":3" />. | One study identified very few recurrent gains and losses below the level of cytogenetic detection <ref name=":3" />. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
*None specific to MDS/MPN-U | *None specific to MDS/MPN-U | ||
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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Amongst the MDS/MPN subtypes, MDS/MPN-U has the most heterogeneous mutation profile. In one study it was most strongly correlated with ''U2AF1'' and ''TP53'' mutations <ref name=":3" />. | Amongst the MDS/MPN subtypes, MDS/MPN-U has the most heterogeneous mutation profile. In one study it was most strongly correlated with ''U2AF1'' and ''TP53'' mutations <ref name=":3" />. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
*Major drivers / early mutations in epigenetic regulators (''ASXL1, TET2)'' and splicing factors (''SRSF2'') <ref name=":2" /> <ref name=":3" /> | *Major drivers / early mutations in epigenetic regulators (''ASXL1, TET2)'' and splicing factors (''SRSF2'') <ref name=":2" /> <ref name=":3" /> | ||
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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 /> | (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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==Notes== | ==Notes== | ||
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<nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic/myeloproliferative neoplasm, NOS”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic/myeloproliferative_neoplasm,_NOS</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic/myeloproliferative neoplasm, NOS”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic/myeloproliferative_neoplasm,_NOS</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]] | [[Category:HAEM5]] | ||
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