HAEM5:Childhood myelodysplastic neoplasm with increased blasts: Difference between revisions

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Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.

==WHO Classification of Disease==

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{| class="wikitable"

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|Acceptable

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|Not Recommended

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No

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

{| class="wikitable sortable"

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|<span class="blue-text">EXAMPLE:</span>

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Monosomy 7 is the most frequent cytogenetic abnormality of RCC patients, followed by trisomy 8 and other abnormalities, including complex karyotypes<ref>{{Cite journal|last=Kardos|first=Gabriela|last2=Baumann|first2=Irith|last3=Passmore|first3=S. Jane|last4=Locatelli|first4=Franco|last5=Hasle|first5=Henrik|last6=Schultz|first6=Kirk R.|last7=Starý|first7=Jan|last8=Schmitt-Graeff|first8=Annette|last9=Fischer|first9=Alexandra|date=2003-09-15|title=Refractory anemia in childhood: a retrospective analysis of 67 patients with particular reference to monosomy 7|url=https://pubmed.ncbi.nlm.nih.gov/12763938|journal=Blood|volume=102|issue=6|pages=1997–2003|doi=10.1182/blood-2002-11-3444|issn=0006-4971|pmid=12763938}}</ref><ref>{{Cite journal|last=Niemeyer|first=Charlotte M.|last2=Baumann|first2=Irith|date=2011|title=Classification of childhood aplastic anemia and myelodysplastic syndrome|url=https://pubmed.ncbi.nlm.nih.gov/22160017|journal=Hematology. American Society of Hematology. Education Program|volume=2011|pages=84–89|doi=10.1182/asheducation-2011.1.84|issn=1520-4383|pmid=22160017}}</ref><ref>{{Cite journal|last=Gupta|first=Ruchi|last2=Harankhedkar|first2=Shivangi|last3=Rahman|first3=Khaliqur|last4=Singh|first4=Manish K.|last5=Chandra|first5=Dinesh|last6=Mittal|first6=Navkirti|last7=Gupta|first7=Anshul|last8=Nityanand|first8=Soniya|date=2018-10|title=Prevalence of Chromosome 7 Abnormalities in Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Single Center Study and Brief Literature Review|url=https://pubmed.ncbi.nlm.nih.gov/30369728|journal=Indian Journal of Hematology & Blood Transfusion: An Official Journal of Indian Society of Hematology and Blood Transfusion|volume=34|issue=4|pages=602–611|doi=10.1007/s12288-018-0941-1|issn=0971-4502|pmc=6186231|pmid=30369728}}</ref>.  

!Chromosomal Pattern

!Molecular Pathogenesis

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|<span class="blue-text">EXAMPLE:</span>

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Monosomy 7 (CCHMC), trisomy 8 and other abnormalities, including complex karyotypes.

{| class="wikitable sortable"

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|<span class="blue-text">EXAMPLE:</span>''EGFR''

|}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.

*Mutations are less common than in adult MDS with a different profile

|}

*''RAS/MAPK'': involved in ''MAPK'' tyrosine Kinase pathway

(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'': “Childhood myelodysplastic neoplasm with increased blasts”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Childhood_myelodysplastic_neoplasm_with_increased_blasts</nowiki>.