HAEM5:Acute myeloid leukaemia with minimal differentiation: Difference between revisions

• Patients present with evidence of bone marrow failure  

• Some patients present with leukocytosis and numerous circulating blasts

</blockquote>

==Sites of Involvement==

POSITIVE   

• Pediatric cases: Negative for TdT, CD34 and CD13 (weak)

</blockquote>

==Chromosomal Rearrangements (Gene Fusions)==

There is no recurrent rearrangements in this entity.

|}

</blockquote>

* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

• Adverse outcome in children. May relate to a lack of more favorable AML cytogenetic abnormalities, such as t(8;21) and inv 16 and presence of high-risk abnormalities (i.e. chromosome 5)<ref name=":6" />.

• MDR1/p-170 protein is positive in blasts and mediates multidrug resistance in adults. This protein functions as a barrier, reducing intracellular concentrations of chemotherapeutics<ref>{{Cite journal|last=Campos|first=L.|last2=Guyotat|first2=D.|last3=Jaffar|first3=C.|last4=Solary|first4=E.|last5=Archimbaud|first5=E.|last6=Treille|first6=D.|date=1992|title=Correlation of MDR1/P-170 expression with daunorubicin uptake and sensitivity of leukemic progenitors in acute myeloid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/1353726|journal=European Journal of Haematology|volume=48|issue=5|pages=254–258|doi=10.1111/j.1600-0609.1992.tb01803.x|issn=0902-4441|pmid=1353726}}</ref><ref>{{Cite journal|last=Wuchter|first=C.|last2=Karawajew|first2=L.|last3=Ruppert|first3=V.|last4=Büchner|first4=T.|last5=Schoch|first5=C.|last6=Haferlach|first6=T.|last7=Ratei|first7=R.|last8=Dörken|first8=B.|last9=Ludwig|first9=W. D.|date=1999|title=Clinical significance of CD95, Bcl-2 and Bax expression and CD95 function in adult de novo acute myeloid leukemia in context of P-glycoprotein function, maturation stage, and cytogenetics|url=https://www.ncbi.nlm.nih.gov/pubmed/10602414|journal=Leukemia|volume=13|issue=12|pages=1943–1953|doi=10.1038/sj.leu.2401605|issn=0887-6924|pmid=10602414}}</ref>.

</blockquote>

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

|}

• +4 sole; intermediate/poor prognosis

• Loss and haploinsufficiency of ''ETV6'' through deletion may be a leukemogenic step in AML-M0<ref name=":2" />

</blockquote>

==Characteristic Chromosomal Patterns==

|}

• No specific chromosomal abnormality is identified

• Pediatric: Chromosome 5 aberrations, trisomy 21 and hypodiploidy more common in AML M0 than non-M0 counterparts<ref name=":6">{{Cite journal|last=Barbaric|first=Draga|last2=Alonzo|first2=Todd A.|last3=Gerbing|first3=Robert B.|last4=Meshinchi|first4=Soheil|last5=Heerema|first5=Nyla A.|last6=Barnard|first6=Dorothy R.|last7=Lange|first7=Beverly J.|last8=Woods|first8=William G.|last9=Arceci|first9=Robert J.|date=2007|title=Minimally differentiated acute myeloid leukemia (FAB AML-M0) is associated with an adverse outcome in children: a report from the Children's Oncology Group, studies CCG-2891 and CCG-2961|url=https://www.ncbi.nlm.nih.gov/pubmed/17158236|journal=Blood|volume=109|issue=6|pages=2314–2321|doi=10.1182/blood-2005-11-025536|issn=0006-4971|pmc=1852193|pmid=17158236}}</ref>

</blockquote>

==Gene Mutations (SNV / INDEL)==

• Co-existence of gene mutations is common

• Mutations of ''RUNX1'' occur in ~30% of cases<ref name=":7" />, and correlates with the presence of trisomy 13 and increased ''FLT3'' expression. ''De novo'' cases with RUNX1 mutations are now classified as the provisional entity of AML with mutated RUNX1 in the 2017 WHO<ref name=":0" />.

</blockquote>

==Epigenomic Alterations==