HAEM5:Myeloproliferative neoplasm, NOS: Difference between revisions
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{{DISPLAYTITLE:Myeloproliferative neoplasm, NOS}} | {{DISPLAYTITLE: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:Myeloproliferative Neoplasm (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> | ||
There are no associated chromosomal rearrangements. There should be no ''BCR''-''ABL1'' or ''PCM1-JAK2'' fusion and no ''PDGFRA'', ''PDGFRB'', or ''FGFR1'' rearrangement. Rearrangements that have been reported include t(4;12)(q12;p13)<ref name=":5">{{Cite journal|last=Zhang|first=Ling|last2=Wang|first2=Man|last3=Wang|first3=Zheng|last4=Zeng|first4=Zhao|last5=Wen|first5=Lijun|last6=Xu|first6=Yi|last7=Yao|first7=Li|last8=Cen|first8=Jiannong|last9=Li|first9=Hongzhi|date=2020-10|title=Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13)|url=https://pubmed.ncbi.nlm.nih.gov/32734549|journal=Annals of Hematology|volume=99|issue=10|pages=2445–2447|doi=10.1007/s00277-020-04207-y|issn=1432-0584|pmid=32734549}}</ref>. | There are no associated chromosomal rearrangements. There should be no ''BCR''-''ABL1'' or ''PCM1-JAK2'' fusion and no ''PDGFRA'', ''PDGFRB'', or ''FGFR1'' rearrangement. Rearrangements that have been reported include t(4;12)(q12;p13)<ref name=":5">{{Cite journal|last=Zhang|first=Ling|last2=Wang|first2=Man|last3=Wang|first3=Zheng|last4=Zeng|first4=Zhao|last5=Wen|first5=Lijun|last6=Xu|first6=Yi|last7=Yao|first7=Li|last8=Cen|first8=Jiannong|last9=Li|first9=Hongzhi|date=2020-10|title=Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13)|url=https://pubmed.ncbi.nlm.nih.gov/32734549|journal=Annals of Hematology|volume=99|issue=10|pages=2445–2447|doi=10.1007/s00277-020-04207-y|issn=1432-0584|pmid=32734549}}</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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* Gene Mutations (SNV/INDEL)}}</blockquote> | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
Follow-up studies on a 6 - 12 month interval can provide additional information for classification<ref name=":0" />. | Follow-up studies on a 6 - 12 month interval can provide additional information for classification<ref name=":0">Kvasnicka HM, et al., (2017). 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, p129-171.</ref>. | ||
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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> | ||
There are no characteristic genomic gain/loss/LOH. | There are no characteristic genomic gain/loss/LOH. | ||
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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> | ||
There are no characteristic chromosomal aberrations/patterns. Cytogenetic abnormalities have been described in four (5.6%) of 71 2008 WHO diagnosed cases<ref name=":1" /> and one (20%) of five 2016 WHO diagnosed cases<ref name=":3" />. Chromosomal aberrations that have been reported include trisomy 8<ref name=":1" /> and 46,XY,inv(12)(q15q24.1)<ref name=":3" />. | There are no characteristic chromosomal aberrations/patterns. Cytogenetic abnormalities have been described in four (5.6%) of 71 2008 WHO diagnosed cases<ref name=":1">Gianelli U, Cattaneo D, Bossi A, Cortinovis I, Boiocchi L, Liu YC, Augello C, Bonometti A, Fiori S, Orofino N, Guidotti F, Orazi A, Iurlo A. The myeloproliferative neoplasms, unclassifiable: clinical and pathological considerations. Mod Pathol. 2017 Feb;30(2):169-179. doi: 10.1038/modpathol.2016.182. Epub 2016 Oct 14. Erratum in: Mod Pathol. 2017 Jul;30(7):1043. PMID: 27739437.</ref> and one (20%) of five 2016 WHO diagnosed cases<ref name=":3">{{Cite journal|last=Yun|first=Jiwon|last2=Kim|first2=Jung-Ah|last3=Park|first3=Junseo|last4=Im|first4=Kyongok|last5=Lee|first5=Young Eun|last6=Jeong|first6=Dajeong|last7=Ryu|first7=Sohee|last8=Lim|first8=Kyu Min|last9=Kim|first9=Sung-Min|date=2020-09-02|title=Reclassification of subtypes in Philadelphia chromosome-negative myeloproliferative neoplasm by 2016 WHO diagnostic criteria: focus on the cases classified as myeloproliferative neoplasm, unclassifiable by the 2008 version|url=https://pubmed.ncbi.nlm.nih.gov/32876501|journal=Leukemia & Lymphoma|pages=1–5|doi=10.1080/10428194.2020.1808212|issn=1029-2403|pmid=32876501}}</ref>. Chromosomal aberrations that have been reported include trisomy 8<ref name=":1" /> and 46,XY,inv(12)(q15q24.1)<ref name=":3" />. | ||
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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> | ||
Mutations in ''JAK2'', ''MPL'', and ''CALR'' are recurrent. A subset of cases have been reported to be negative for mutations in these three genes (i.e. triple negative). Limited studies have reported mutations in other genes including ''ASXL1''<ref name=":3" /> and ''ZRSR2''<ref name=":3" /><ref name=":5" />. | Mutations in ''JAK2'', ''MPL'', and ''CALR'' are recurrent. A subset of cases have been reported to be negative for mutations in these three genes (i.e. triple negative). Limited studies have reported mutations in other genes including ''ASXL1''<ref name=":3" /> and ''ZRSR2''<ref name=":3" /><ref name=":5" />. | ||
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!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) | !Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other) | ||
|- | |- | ||
|''JAK2''||V617F||Oncogene||GOF||72%<ref name=":1" />, 65%<ref name=":4" /> | |''JAK2''||V617F||Oncogene||GOF||72%<ref name=":1" />, 65%<ref name=":4">{{Cite journal|last=Rumi|first=Elisa|last2=Boveri|first2=Emanuela|last3=Bellini|first3=Marta|last4=Pietra|first4=Daniela|last5=Ferretti|first5=Virginia V.|last6=Sant'Antonio|first6=Emanuela|last7=Cavalloni|first7=Chiara|last8=Casetti|first8=Ilaria C.|last9=Roncoroni|first9=Elisa|date=2017-11-24|title=Clinical course and outcome of essential thrombocythemia and prefibrotic myelofibrosis according to the revised WHO 2016 diagnostic criteria|url=https://pubmed.ncbi.nlm.nih.gov/29254200|journal=Oncotarget|volume=8|issue=60|pages=101735–101744|doi=10.18632/oncotarget.21594|issn=1949-2553|pmc=5731910|pmid=29254200}}</ref> | ||
|- | |- | ||
|''MPL'' | |''MPL'' | ||
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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> | ||
Mutations in ''JAK2'', ''CALR'', and ''MPL'' lead to constitutive activation of the Janus kinase/signal transducer and activator of transcription (JAK-STAT) pathway. ''JAK2'' V617F mutations affect signalling through the EPOR, MPL, and G-CSFR homodimeric receptors while ''CALR'' and ''MPL'' mutations affect signalling through MPL only<ref>{{Cite journal|last=Vainchenker|first=William|last2=Kralovics|first2=Robert|date=02 09, 2017|title=Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/28028029|journal=Blood|volume=129|issue=6|pages=667–679|doi=10.1182/blood-2016-10-695940|issn=1528-0020|pmid=28028029}}</ref>. | Mutations in ''JAK2'', ''CALR'', and ''MPL'' lead to constitutive activation of the Janus kinase/signal transducer and activator of transcription (JAK-STAT) pathway. ''JAK2'' V617F mutations affect signalling through the EPOR, MPL, and G-CSFR homodimeric receptors while ''CALR'' and ''MPL'' mutations affect signalling through MPL only<ref>{{Cite journal|last=Vainchenker|first=William|last2=Kralovics|first2=Robert|date=02 09, 2017|title=Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/28028029|journal=Blood|volume=129|issue=6|pages=667–679|doi=10.1182/blood-2016-10-695940|issn=1528-0020|pmid=28028029}}</ref>. | ||
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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'': “Myeloproliferative neoplasm, NOS”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloproliferative_neoplasm,_NOS</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Myeloproliferative neoplasm, NOS”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloproliferative_neoplasm,_NOS</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases M]] | |||