HAEM5:Acute myeloid leukaemia with RBM15::MRTFA fusion: Difference between revisions

Usually presents with marked organomegaly, especially hepatosplenomegaly, anemia, thrombocytopenia and a moderately elevated white blood cell count<ref name=":0" />.

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==Sites of Involvement==

This AML subtype is classified based on the presence of a t(1;22)(p13.3;q13.1), which results in fusion of ''RBM15''(''OTT'') at 1p13.3 [hg38] and ''MKL1''(''MAL'') at 22q13.1 [hg38] with variable breakpoints<ref name=":1">{{Cite journal|last=Ma|first=Z.|last2=Morris|first2=S. W.|last3=Valentine|first3=V.|last4=Li|first4=M.|last5=Herbrick|first5=J. A.|last6=Cui|first6=X.|last7=Bouman|first7=D.|last8=Li|first8=Y.|last9=Mehta|first9=P. K.|date=2001|title=Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/11431691|journal=Nature Genetics|volume=28|issue=3|pages=220–221|doi=10.1038/90054|issn=1061-4036|pmid=11431691}}</ref><ref>{{Cite journal|last=Arber|first=Daniel A.|last2=Orazi|first2=Attilio|last3=Hasserjian|first3=Robert|last4=Thiele|first4=Jürgen|last5=Borowitz|first5=Michael J.|last6=Le Beau|first6=Michelle M.|last7=Bloomfield|first7=Clara D.|last8=Cazzola|first8=Mario|last9=Vardiman|first9=James W.|date=2016|title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/27069254|journal=Blood|volume=127|issue=20|pages=2391–2405|doi=10.1182/blood-2016-03-643544|issn=1528-0020|pmid=27069254}}</ref>.  Although both reciprocal fusions are expressed, the ''RBM15''-''MKL1'' fusion on the derivative chromosome 22 is the candidate oncoprotein because it contains all of the putative functional domains of both proteins<ref name=":1" />. Typically the ''RBM15''-''MKL1'' fusion presents as the sole abnormality<ref name=":0" />.

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

Translocation-confirmed cases with <20% blasts on aspirate smears should be correlated with the biopsy to exclude an artificially low count due to marrow fibrosis, and then if the blasts remain low, followed closely to monitor for development of more definitive evidence for AML (such as the occurrence of extramedullary disease or myeloid sarcoma)<ref name=":0" />.

Careful supportive care is likely required to prevent early death related to intensive chemotherapy<ref>{{Cite journal|last=Creutzig|first=Ursula|last2=Zimmermann|first2=Martin|last3=Reinhardt|first3=Dirk|last4=Dworzak|first4=Michael|last5=Stary|first5=Jan|last6=Lehrnbecher|first6=Thomas|date=2004|title=Early deaths and treatment-related mortality in children undergoing therapy for acute myeloid leukemia: analysis of the multicenter clinical trials AML-BFM 93 and AML-BFM 98|url=https://www.ncbi.nlm.nih.gov/pubmed/15514380|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=22|issue=21|pages=4384–4393|doi=10.1200/JCO.2004.01.191|issn=0732-183X|pmid=15514380}}</ref>, especially considering the very young age of patients with this AML subtype; differences in such care may cause the lack of prognostic consistency<ref name=":2" />.

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

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Not applicable

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==Characteristic Chromosomal Patterns==

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Not applicable

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==Gene Mutations (SNV / INDEL)==

COSMIC does not have specific information on mutations related to this subtype of AML.

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==Epigenomic Alterations==

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The molecular mechanism is not completely understand, but the fusion protein may modulate chromatin organization, HOX-induced differentiation and extracellular signaling pathways<ref name=":0" /><ref name=":1" />.

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==Genetic Diagnostic Testing Methods==