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

|Hyperdiploid

|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. During the clonal evolution, chromosomes that changed in copy number comprised X, 8, 9, 14, 16, 17, and 21<ref name=":6" />.

|D: Needs demonstration of high-hyperdiploidy status (comprising 51–65 chromosomes) by karyotyping and/or FISH

P: B-ALL/LBL with high-hyperdiploidy has a very favorable prognosis, with long-term overall survival in > 90% of children<ref name=":0">{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Andersen|first3=Mette K.|last4=Autio|first4=Kirsi|last5=Barbany|first5=Gisela|last6=Borgström|first6=Georg|last7=Cavelier|first7=Lucia|last8=Golovleva|first8=Irina|last9=Heim|first9=Sverre|date=2013-09|title=High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols|url=https://pubmed.ncbi.nlm.nih.gov/23645689|journal=Haematologica|volume=98|issue=9|pages=1424–1432|doi=10.3324/haematol.2013.085852|issn=1592-8721|pmc=3762100|pmid=23645689}}</ref>.