HAEM5:Acute erythroid leukaemia: Difference between revisions

PEL has an aggressive clinical course with neoplastic proliferation of immature erythroid precursor (proerythroblastic or undifferentiated) cells. Average survival rate is three months<ref name=":0" /><ref name=":9" />. PEL is characterized by neoplastic proliferation composed of >80% immature erythroid precursors of which proerythroblasts constitute ≥30%<ref name=":11" />. Clinical features include profound anemia, circulating erythroblasts, pancytopenia, extensive bone marrow involvement, fatigue, infections, weight loss, fever, night sweats, hemoglobin level under 10.0 g/dL, and thrombocytopenia<ref name=":0" /><ref name=":9" />.

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==Sites of Involvement==

The genetic abnormalities that have been identified in PEL are similar to that of AML and MDS and consists of complex chromosomal abnormalities including -5/del(5q), -7/del(7q), +8 and/or RUNX1 and TP53 mutations<ref name=":0" />. Rearrangement of NFIA-CBFA2T3 with t(1;16)(p31;q24) and MYND8-RELA with t(11;20)(p11;q11) have been reported in rare cases<ref name=":9" />. A complex karyotype with 46,XY,der(5)del(5)(p15.1p15.1)t(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL<ref name=":10" />.  

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

PEL has rapid and aggressive clinical course. Patients with PEL are treated similar to other types of AML. Stem cell transplantation (SCT) may have an improvement in the outcome of the disease. No therapeutic agents for specific target pathways are currently available<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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==Gene Mutations (SNV / INDEL)==

JAK2, FLT3, RAS, NPM1, and CEBPA mutations have been reported to be rare in PEL<ref name=":9" /><ref name=":10" /><ref name=":11" />.  Intraclonal heterogeneity and founder mutations of TP53 were reported in 92% (11 out of 12 cases) while  co-occurrence of TP53 mutation and deletion due to chromosome 17p abnormalities were detected in 73% of PEL cases<ref>{{Cite journal|last=Montalban-Bravo|first=Guillermo|last2=Benton|first2=Christopher B.|last3=Wang|first3=Sa A.|last4=Ravandi|first4=Farhad|last5=Kadia|first5=Tapan|last6=Cortes|first6=Jorge|last7=Daver|first7=Naval|last8=Takahashi|first8=Koichi|last9=DiNardo|first9=Courtney|date=2017|title=More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/28246192|journal=Blood|volume=129|issue=18|pages=2584–2587|doi=10.1182/blood-2016-11-749903|issn=1528-0020|pmc=5418636|pmid=28246192}}</ref>.

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==Epigenomic Alterations==

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The molecular mechanism is not completely understood.

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==Genetic Diagnostic Testing Methods==