HAEM5:B-lymphoblastic leukaemia/lymphoma with high hyperdiploidy: Difference between revisions

This entity is defined by a hyperdiploid pattern with a karyotype comprising 51–65 chromosomes with recurrent, non-random gains of one or more copies of entire chromosomes<ref name=":3" />. Highly homogeneous genomes are seen for most of the leukemias, with predominantly whole chromosome gains being present in all cells<ref name=":6" />. Below are the typical chromosomal gains described.

|Although pathogenetic mechanisms are poorly understood, chromosomal gains are early events in the pathogenesis, possibly already before birth, and are the main driver<ref name=":3">WHO Classification of Tumours: Haematolymphoid Tumours [Internet; Beta Version Ahead of Print](5th ed.), International Agency for Research on Cancer (2022)</ref><ref>{{Cite journal|last=Szczepański|first=T.|last2=Willemse|first2=M. J.|last3=van Wering|first3=E. R.|last4=van Weerden|first4=J. F.|last5=Kamps|first5=W. A.|last6=van Dongen|first6=J. J.|date=2001-09|title=Precursor-B-ALL with D(H)-J(H) gene rearrangements have an immature immunogenotype with a high frequency of oligoclonality and hyperdiploidy of chromosome 14|url=https://pubmed.ncbi.nlm.nih.gov/11516102|journal=Leukemia|volume=15|issue=9|pages=1415–1423|doi=10.1038/sj.leu.2402206|issn=0887-6924|pmid=11516102}}</ref><ref>{{Cite journal|last=Maia|first=A. T.|last2=van der Velden|first2=V. H. J.|last3=Harrison|first3=C. J.|last4=Szczepanski|first4=T.|last5=Williams|first5=M. D.|last6=Griffiths|first6=M. J.|last7=van Dongen|first7=J. J. M.|last8=Greaves|first8=M. F.|date=2003-11|title=Prenatal origin of hyperdiploid acute lymphoblastic leukemia in identical twins|url=https://pubmed.ncbi.nlm.nih.gov/12931229|journal=Leukemia|volume=17|issue=11|pages=2202–2206|doi=10.1038/sj.leu.2403101|issn=0887-6924|pmid=12931229}}</ref><ref>{{Cite journal|last=Maia|first=Ana Teresa|last2=Tussiwand|first2=Roxane|last3=Cazzaniga|first3=Giovanni|last4=Rebulla|first4=Paolo|last5=Colman|first5=Susan|last6=Biondi|first6=Andrea|last7=Greaves|first7=Mel|date=2004-05|title=Identification of preleukemic precursors of hyperdiploid acute lymphoblastic leukemia in cord blood|url=https://pubmed.ncbi.nlm.nih.gov/15034866|journal=Genes, Chromosomes & Cancer|volume=40|issue=1|pages=38–43|doi=10.1002/gcc.20010|issn=1045-2257|pmid=15034866}}</ref><ref name=":2" />. It was suggested that the aneuploidy in these cases likely arises by an initial tripolar mitosis in a diploid cell followed by clonal evolution<ref name=":6">{{Cite journal|last=Woodward|first=Eleanor L.|last2=Yang|first2=Minjun|last3=Moura-Castro|first3=Larissa H.|last4=van den Bos|first4=Hilda|last5=Gunnarsson|first5=Rebeqa|last6=Olsson-Arvidsson|first6=Linda|last7=Spierings|first7=Diana C. J.|last8=Castor|first8=Anders|last9=Duployez|first9=Nicolas|date=2023-03-25|title=Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/36966135|journal=Nature Communications|volume=14|issue=1|pages=1658|doi=10.1038/s41467-023-37356-5|issn=2041-1723|pmc=10039905|pmid=36966135}}</ref>.