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

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 !Clinical Relevance Details/Other Notes
 |-
-|Near-haploid B-ALL/LBL with hypodiploidy<ref>{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chaptercontent/63/293}}</ref>
+|Near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes)
 |24–31 chromosomes
-|Rare
+|Rare (0.5%)
 |D: Needs demonstration of hypodiploidy (≤ 43 chromosomes) by karyotyping and/or FISH analysis; flow cytometry DNA index analysis and/or SNP array analysis to identify masked hypodiploidy.
-P: Associated with poor prognosis
+P: Associated with poor prognosis. 5-year EFS 25–40%<ref name=":8">{{Cite journal|last=Panuciak|first=Kinga|last2=Nowicka|first2=Emilia|last3=Mastalerczyk|first3=Angelika|last4=Zawitkowska|first4=Joanna|last5=Niedźwiecki|first5=Maciej|last6=Lejman|first6=Monika|date=2023-05-15|title=Overview on Aneuploidy in Childhood B-Cell Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/37240110|journal=International Journal of Molecular Sciences|volume=24|issue=10|pages=8764|doi=10.3390/ijms24108764|issn=1422-0067|pmc=10218510|pmid=37240110}}</ref>.
-T: N/A
 |No (NCCN)
-|This is a very rare category. It has been observed in the pediatric population with virtually no adult cases reported.  Nonrandom retention of the X chromosome plus chromosomes 8, 14, 18, and 21 are frequently observed. The most common targets of aneuploidy are chromosomes 1–7, 9, 11–13, 15–17, 19–20 and 22<ref name=":7">{{Cite journal|last=Holmfeldt|first=Linda|last2=Wei|first2=Lei|last3=Diaz-Flores|first3=Ernesto|last4=Walsh|first4=Michael|last5=Zhang|first5=Jinghui|last6=Ding|first6=Li|last7=Payne-Turner|first7=Debbie|last8=Churchman|first8=Michelle|last9=Andersson|first9=Anna|date=2013-03|title=The genomic landscape of hypodiploid acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/23334668|journal=Nature Genetics|volume=45|issue=3|pages=242–252|doi=10.1038/ng.2532|issn=1546-1718|pmc=3919793|pmid=23334668}}</ref>.
+|It has been observed in the pediatric population with virtually no adult cases reported. Nonrandom retention of the X chromosome plus chromosomes 8, 14, 18, and 21 are frequently observed. The most common targets of aneuploidy are chromosomes 1–7, 9, 11–13, 15–17, 19–20 and 22<ref name=":2" /><ref>{{Cite journal|last=Creasey|first=Thomas|last2=Enshaei|first2=Amir|last3=Nebral|first3=Karin|last4=Schwab|first4=Claire|last5=Watts|first5=Kathryn|last6=Cuthbert|first6=Gavin|last7=Vora|first7=Ajay|last8=Moppett|first8=John|last9=Harrison|first9=Christine J.|date=2021-09|title=Single nucleotide polymorphism array-based signature of low hypodiploidy in acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/33938069|journal=Genes, Chromosomes & Cancer|volume=60|issue=9|pages=604–615|doi=10.1002/gcc.22956|issn=1098-2264|pmc=8600946|pmid=33938069}}</ref><ref>{{Cite journal|last=Harrison|first=Christine J.|last2=Moorman|first2=Anthony V.|last3=Broadfield|first3=Zoë J.|last4=Cheung|first4=Kan L.|last5=Harris|first5=Rachel L.|last6=Reza Jalali|first6=G.|last7=Robinson|first7=Hazel M.|last8=Barber|first8=Kerry E.|last9=Richards|first9=Sue M.|date=2004-06|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/15147369|journal=British Journal of Haematology|volume=125|issue=5|pages=552–559|doi=10.1111/j.1365-2141.2004.04948.x|issn=0007-1048|pmid=15147369}}</ref><ref name=":6" /><ref name=":7">{{Cite journal|last=Holmfeldt|first=Linda|last2=Wei|first2=Lei|last3=Diaz-Flores|first3=Ernesto|last4=Walsh|first4=Michael|last5=Zhang|first5=Jinghui|last6=Ding|first6=Li|last7=Payne-Turner|first7=Debbie|last8=Churchman|first8=Michelle|last9=Andersson|first9=Anna|date=2013-03|title=The genomic landscape of hypodiploid acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/23334668|journal=Nature Genetics|volume=45|issue=3|pages=242–252|doi=10.1038/ng.2532|issn=1546-1718|pmc=3919793|pmid=23334668}}</ref>.
 Near-haploid and low-hypodiploid B-ALL/LBL may undergo doubling, resulting in a pseudohyperdiploid or near-triploid clone containing up to 78 chromosomes. If the original hypodiploid clone is not present, the hypodiploidy is regarded as masked, and the case may be mistaken for high-hyperdiploid B-ALL/LBL, resulting in an inappropriate prognostication<ref>{{Cite journal|last=Carroll|first=Andrew J.|last2=Shago|first2=Mary|last3=Mikhail|first3=Fady M.|last4=Raimondi|first4=Susana C.|last5=Hirsch|first5=Betsy A.|last6=Loh|first6=Mignon L.|last7=Raetz|first7=Elizabeth A.|last8=Borowitz|first8=Michael J.|last9=Wood|first9=Brent L.|date=2019-10|title=Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group|url=https://pubmed.ncbi.nlm.nih.gov/31425927|journal=Cancer Genetics|volume=238|pages=62–68|doi=10.1016/j.cancergen.2019.07.009|issn=2210-7762|pmc=6768693|pmid=31425927}}</ref><ref>{{Cite journal|last=Creasey|first=Thomas|last2=Enshaei|first2=Amir|last3=Nebral|first3=Karin|last4=Schwab|first4=Claire|last5=Watts|first5=Kathryn|last6=Cuthbert|first6=Gavin|last7=Vora|first7=Ajay|last8=Moppett|first8=John|last9=Harrison|first9=Christine J.|date=2021-09|title=Single nucleotide polymorphism array-based signature of low hypodiploidy in acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/33938069|journal=Genes, Chromosomes & Cancer|volume=60|issue=9|pages=604–615|doi=10.1002/gcc.22956|issn=1098-2264|pmc=8600946|pmid=33938069}}</ref>. The two subtypes may be differentiated by SNP array analysis, demonstrating copy-neutral loss of heterozygosity for doubled monosomic chromosomes. The DNA index assessed by flow cytometry may also be helpful if distinct peaks representing the hypodiploid and doubled clones are both detectable<ref>{{Cite journal|last=Yu|first=Chih-Hsiang|last2=Lin|first2=Tze-Kang|last3=Jou|first3=Shiann-Tarng|last4=Lin|first4=Chien-Yu|last5=Lin|first5=Kai-Hsin|last6=Lu|first6=Meng-Yao|last7=Chen|first7=Shu-Huey|last8=Cheng|first8=Chao-Neng|last9=Wu|first9=Kang-Hsi|date=2020-07-13|title=MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/32661308|journal=Scientific Reports|volume=10|issue=1|pages=11501|doi=10.1038/s41598-020-68311-9|issn=2045-2322|pmc=7359332|pmid=32661308}}</ref>.
 |-
-|Low-hypodiploid B-ALL/LBL with hypodiploidy
+|Low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes)
 |32–39 chromosomes
 |Rare in children, recurrent in adolescents, young adults, and adults
-|Associated with poor prognosis
+|P: Associated with poor prognosis. EFS 30–50%<ref name=":8" />.
 |No (NCCN)
 |Low-hypodiploid B-ALL/LBL is rare in children (< 1%); however, the frequency increases with age, accounting for 5% of B-ALL/LBL cases in adolescents and young adults, and > 10% of cases in adults. Nonrandom retention of two copies of chromosomes from the following: the sex chromosomes plus chromosomes 1,6, 8, 10, 14, 18, and19.  Chromosome 21 is almost always retained in two copies.
 The most common targets of aneuploidy are chromosomes 2–4, 7, 9, 12–13, 15–17 and 20<ref name=":7" />.
 |-
-|High-hypodiploid B-ALL/LBL with hypodiploidy
+|High-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)
 |40–43 chromosomes
 |
-|Associated with poor prognosis
+|P: Associated with poor prognosis. EFS 75%<ref name=":8" />.
 |No (NCCN)
 |Chromosome abnormalities include whole chromosome loss, specifically one sex chromosome and often chromosomes 7, 9, and/or 13.  Also detected are structural anomalies especially dicentric chromosomes involving chromosomes 7, 9 or 12.