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

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|''RBM15''(''OTT'')::''MKL1''(''MAL'')||The majority of both genes retained in the fusion 5’ ''DEK'' and 3’''NUP214''(''CAN'') with the pathogenic derivative being hte der(22).||t(1;22)(p13.3;q13.1)

*The t(1;22) was originally associated with an intermediate overall survival and poor event-free survival<ref name=":3" />.  Two retrospective studies in 2015 and 2016 of non-Down syndrome pediatric AMKL patients found that the ''RBM15''-''MKL1'' fusion was present in 12% and 13.7% of cases, was associated with significantly younger onset, and was considered to have a relative risk classification of intermediate or standard<ref name=":4" /><ref name=":2">{{Cite journal|last=Inaba|first=Hiroto|last2=Zhou|first2=Yinmei|last3=Abla|first3=Oussama|last4=Adachi|first4=Souichi|last5=Auvrignon|first5=Anne|last6=Beverloo|first6=H. Berna|last7=de Bont|first7=Eveline|last8=Chang|first8=Tai-Tsung|last9=Creutzig|first9=Ursula|date=2015|title=Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: a retrospective international study|url=https://www.ncbi.nlm.nih.gov/pubmed/26215111|journal=Blood|volume=126|issue=13|pages=1575–1584|doi=10.1182/blood-2015-02-629204|issn=1528-0020|pmc=4582334|pmid=26215111}}</ref>.  However, the majority of studies showed this to be a high-risk disease compared with pediatric AMKL without t(1;22). 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" />.

!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''

!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''

!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''

!'''Clinical Relevance Details/Other Notes'''

!'''Prevalence -'''

'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''

!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''

!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''

!'''Clinical Relevance Details/Other Notes'''

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

!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''

'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''

!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''

!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''

!'''Clinical Relevance Details/Other Notes'''

The molecular mechanism is not completely understood, but the fusion protein may modulate chromatin organization, HOX-induced differentiation and extracellular signaling pathways<ref name=":1" /><ref name=":3" />.

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

|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation

Karyotype, FISH, RT-PCR

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