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

The clinical symptoms are usually related to cytopenia such as anemia, bleeding tendency, and infection. However, approximately 20% of patients have no clinical symptoms or signs<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>.

*Platelet count: <150 x10⁹/L

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==Sites of Involvement==

CD61, CD41, von Willebrand factor are useful to help detect the micromegakaryocyte. No increase of CD34 staining should be observed, which indicates the progression of high grade MDS<ref name=":0" />.  

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==Chromosomal Rearrangements (Gene Fusions)==

No

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

*Diagnosis: <2% blood blasts and <5% bone marrow blasts and persistent cytopenia

*Therapeutic: Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for RCC patients. This treatment is suitable for patients with monosomy 7 or a complex karyotype in the early stage of the process. Some of the RCC patients benefit from immunosuppressive therapy, although it is unclear whether the immunosuppressive therapy has the risk of relapse long-term<ref>{{Cite journal|last=Hasegawa|first=Daisuke|last2=Manabe|first2=Atsushi|last3=Yagasaki|first3=Hiroshi|last4=Ohtsuka|first4=Yoshitoshi|last5=Inoue|first5=Masami|last6=Kikuchi|first6=Akira|last7=Ohara|first7=Akira|last8=Tsuchida|first8=Masahiro|last9=Kojima|first9=Seiji|date=2009-12|title=Treatment of children with refractory anemia: the Japanese Childhood MDS Study Group trial (MDS99)|url=https://pubmed.ncbi.nlm.nih.gov/19499580|journal=Pediatric Blood & Cancer|volume=53|issue=6|pages=1011–1015|doi=10.1002/pbc.22121|issn=1545-5017|pmid=19499580}}</ref><ref>{{Cite journal|last=Yoshimi|first=Ayami|last2=van den Heuvel-Eibrink|first2=Marry M.|last3=Baumann|first3=Irith|last4=Schwarz|first4=Stephan|last5=Simonitsch-Klupp|first5=Ingrid|last6=de Paepe|first6=Pascale|last7=Campr|first7=Vit|last8=Kerndrup|first8=Gitte Birk|last9=O'Sullivan|first9=Maureen|date=2014-04|title=Comparison of horse and rabbit antithymocyte globulin in immunosuppressive therapy for refractory cytopenia of childhood|url=https://pubmed.ncbi.nlm.nih.gov/24162791|journal=Haematologica|volume=99|issue=4|pages=656–663|doi=10.3324/haematol.2013.095786|issn=1592-8721|pmc=3971075|pmid=24162791}}</ref>.

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==Individual Region Genomic Gain / Loss / LOH==

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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>.  

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==Characteristic Chromosomal Patterns==

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

Pictures are needed to be upload!!<br />

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==Gene Mutations (SNV / INDEL)==

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

No

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==Epigenomic Alterations==

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

*''GATA2'': involved in regulating transcription of genes related with the development and proliferation of hematopoietic and endocrine cell lineages

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==Genetic Diagnostic Testing Methods==