HAEM5:Myeloid sarcoma: Difference between revisions

{{DISPLAYTITLE:Myeloid sarcoma}}

[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

{{Under Construction}}

}}</blockquote>

|}

==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>

|}

FISH and/or karyotypic aberrations are detected in about 55% of cases.

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

|}

{| class="wikitable sortable"

|}

Complex karyotype is associated with poor outcome<ref name=":1">{{Cite journal|last=Mirza|first=M. Kamran|last2=Sukhanova|first2=Madina|last3=Stölzel|first3=Friedrich|last4=Onel|first4=Kenan|last5=Larson|first5=Richard A.|last6=Stock|first6=Wendy|last7=Ehninger|first7=Gerhard|last8=Kuithan|first8=Friederike|last9=Zöphel|first9=Klaus|date=2014|title=Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays|url=https://www.ncbi.nlm.nih.gov/pubmed/25088808|journal=Leukemia Research|volume=38|issue=9|pages=1091–1096|doi=10.1016/j.leukres.2014.05.004|issn=1873-5835|pmc=4157130|pmid=25088808}}</ref>.  

|}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.

Some studies have reported genetic abnormalities in various AML-associated genes encoding tyrosine kinases (''FLT3'', ''KIT'', and ''KRAS''), tumor suppressors (''WT1'' and ''TP53''), epigenetic modifiers (''TET2'' and ''ASXL1''), spliceosome proteins (''SF3B1'' and ''SRSF2''), and transcription factors (''RUNX1''). One study highlights that almost one-third of MS harbor a targetable mutation, in particular ''KIT'' D816V, ''IDH2'' R140Q, and ''BRAF'' V600E. These mutations can also be found in non infiltrated bone marrows suggesting the existence of preleukemic clones in the bone marrow from MS patients<ref>{{Cite journal|last=Falini|first=B.|last2=Lenze|first2=D.|last3=Hasserjian|first3=R.|last4=Coupland|first4=S.|last5=Jaehne|first5=D.|last6=Soupir|first6=C.|last7=Liso|first7=A.|last8=Martelli|first8=M. P.|last9=Bolli|first9=N.|date=2007|title=Cytoplasmic mutated nucleophosmin (NPM) defines the molecular status of a significant fraction of myeloid sarcomas|url=https://www.ncbi.nlm.nih.gov/pubmed/17443224|journal=Leukemia|volume=21|issue=7|pages=1566–1570|doi=10.1038/sj.leu.2404699|issn=0887-6924|pmid=17443224}}</ref><ref>{{Cite journal|last=Li|first=Z.|last2=Stölzel|first2=F.|last3=Onel|first3=K.|last4=Sukhanova|first4=M.|last5=Mirza|first5=M. K.|last6=Yap|first6=K. L.|last7=Borinets|first7=O.|last8=Larson|first8=R. A.|last9=Stock|first9=W.|date=2015|title=Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma|url=https://www.ncbi.nlm.nih.gov/pubmed/25787914|journal=Leukemia|volume=29|issue=10|pages=2113–2116|doi=10.1038/leu.2015.81|issn=1476-5551|pmc=4575593|pmid=25787914}}</ref><ref>{{Cite journal|last=Pastoret|first=Cedric|last2=Houot|first2=Roch|last3=Llamas-Gutierrez|first3=Francisco|last4=Boulland|first4=Marie-Laure|last5=Marchand|first5=Tony|last6=Tas|first6=Patrick|last7=Ly-Sunnaram|first7=Beatrice|last8=Gandemer|first8=Virginie|last9=Lamy|first9=Thierry|date=2017|title=Detection of clonal heterogeneity and targetable mutations in myeloid sarcoma by high-throughput sequencing|url=https://www.ncbi.nlm.nih.gov/pubmed/27659839|journal=Leukemia & Lymphoma|volume=58|issue=4|pages=1008–1012|doi=10.1080/10428194.2016.1225208|issn=1029-2403|pmid=27659839}}</ref>.

(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 />

==Notes==

          

<nowiki>*</nowiki>''Citation of this Page'': “Myeloid sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid_sarcoma</nowiki>.