HAEM5:Juvenile myelomonocytic leukaemia: Difference between revisions
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{{DISPLAYTITLE:Juvenile myelomonocytic leukaemia}} | {{DISPLAYTITLE:Juvenile myelomonocytic leukaemia}} | ||
[[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:Juvenile Myelomonocytic Leukemia (JMML)]]. | ||
}}</blockquote> | }}</blockquote> | ||
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|Subtype(s) | |Subtype(s) | ||
|Juvenile myelomonocytic leukaemia | |Juvenile myelomonocytic leukaemia | ||
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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> | ||
Chromosomal translocations resulting in fusion genes have been only rarely reported in JMML patients with monosomy 7 (without mutations in the canonical RAS pathway)<ref>{{Cite journal|last=Meynier|first=Sonia|last2=Rieux-Laucat|first2=Frédéric|date=2020-09|title=After 95 years, it's time to eRASe JMML|url=https://pubmed.ncbi.nlm.nih.gov/31980238|journal=Blood Reviews|volume=43|pages=100652|doi=10.1016/j.blre.2020.100652|issn=1532-1681|pmid=31980238}}</ref>. | Chromosomal translocations resulting in fusion genes have been only rarely reported in JMML patients with monosomy 7 (without mutations in the canonical RAS pathway)<ref>{{Cite journal|last=Meynier|first=Sonia|last2=Rieux-Laucat|first2=Frédéric|date=2020-09|title=After 95 years, it's time to eRASe JMML|url=https://pubmed.ncbi.nlm.nih.gov/31980238|journal=Blood Reviews|volume=43|pages=100652|doi=10.1016/j.blre.2020.100652|issn=1532-1681|pmid=31980238}}</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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<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> | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Prevalence''' | |'''Prevalence''' | ||
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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> | ||
Frequent gene mutations<ref>{{Cite journal|last=Niemeyer|first=Charlotte M.|date=2018-11-30|title=JMML genomics and decisions|url=https://pubmed.ncbi.nlm.nih.gov/30504325|journal=Hematology. American Society of Hematology. Education Program|volume=2018|issue=1|pages=307–312|doi=10.1182/asheducation-2018.1.307|issn=1520-4383|pmc=6245977|pmid=30504325}}</ref> are summarized below: | Frequent gene mutations<ref>{{Cite journal|last=Niemeyer|first=Charlotte M.|date=2018-11-30|title=JMML genomics and decisions|url=https://pubmed.ncbi.nlm.nih.gov/30504325|journal=Hematology. American Society of Hematology. Education Program|volume=2018|issue=1|pages=307–312|doi=10.1182/asheducation-2018.1.307|issn=1520-4383|pmc=6245977|pmid=30504325}}</ref> are summarized below: | ||
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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> | ||
Molecular driver mutations within the RAS signaling pathway genes ''PTPN11'', ''NRAS'', ''KRAS'', ''NF1'', and ''CBL'' are identified in 85-90% of patients with JMML. | Molecular driver mutations within the RAS signaling pathway genes ''PTPN11'', ''NRAS'', ''KRAS'', ''NF1'', and ''CBL'' are identified in 85-90% of patients with JMML. | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal|last=Arber|first=Daniel A.|last2=Orazi|first2=Attilio|last3=Hasserjian|first3=Robert P.|last4=Borowitz|first4=Michael J.|last5=Calvo|first5=Katherine R.|last6=Kvasnicka|first6=Hans-Michael|last7=Wang|first7=Sa A.|last8=Bagg|first8=Adam|last9=Barbui|first9=Tiziano|date=2022-09-15|title=International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data|url=https://pubmed.ncbi.nlm.nih.gov/35767897|journal=Blood|volume=140|issue=11|pages=1200–1228|doi=10.1182/blood.2022015850|issn=1528-0020|pmc=9479031|pmid=35767897}}</ref><blockquote class="blockedit"> | ||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | <center><span style="color:Maroon">'''End of V4 Section'''</span> | ||
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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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3. Noonan syndrome (OMIM # 163950) with germline mutations in ''PTPN11''. | 3. Noonan syndrome (OMIM # 163950) with germline mutations in ''PTPN11''. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases J]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases J]] | |||