HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions
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Patients with 44 chromosomes had a better event free survival (EFS) than patients with fewer than 44 chromosomes<ref name=":3" />. However, patients with 44 chromosomes and monosomy 7 or a dicentric chromosome had worse EFS<ref name=":3" />. Children and adults with less than 44 chromosomes had poor outcome despite contemporary therapy<ref name=":3" />. | Patients with 44 chromosomes had a better event free survival (EFS) than patients with fewer than 44 chromosomes<ref name=":3">{{Cite journal|last=Nachman|first=James B.|last2=Heerema|first2=Nyla A.|last3=Sather|first3=Harland|last4=Camitta|first4=Bruce|last5=Forestier|first5=Erik|last6=Harrison|first6=Christine J.|last7=Dastugue|first7=Nicole|last8=Schrappe|first8=Martin|last9=Pui|first9=Ching-Hon|date=2007|title=Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/17473063|journal=Blood|volume=110|issue=4|pages=1112–1115|doi=10.1182/blood-2006-07-038299|issn=0006-4971|pmc=1939895|pmid=17473063}}</ref>. However, patients with 44 chromosomes and monosomy 7 or a dicentric chromosome had worse EFS<ref name=":3" />. Children and adults with less than 44 chromosomes had poor outcome despite contemporary therapy<ref name=":3" />. | ||
In near haploid cases, two-thirds had activation of RAS signaling and P13K signaling pathways; these are sensitive to P13K inhibitors indicating these drugs may offer a new therapeutic option<ref name=":2" />. | In near haploid cases, two-thirds had activation of RAS signaling and P13K signaling pathways; these are sensitive to P13K inhibitors indicating these drugs may offer a new therapeutic option<ref name=":2" />. | ||
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==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
This entity is defined by the presence of neoplastic lymphoblasts containing less than 46 chromosomes<ref name=":0">Borowitz MJ, et al., (2017). B-Lymphoblastic leukaemia/lymphoma with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p206.</ref>, and can be subdivided into near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes); low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes); and high-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)<ref name=":13" />. | This entity is defined by the presence of neoplastic lymphoblasts containing less than 46 chromosomes<ref name=":0">Borowitz MJ, et al., (2017). B-Lymphoblastic leukaemia/lymphoma with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p206.</ref>, and can be subdivided into near-haploid B-ALL/LBL with hypodiploidy (24–31 chromosomes); low-hypodiploid B-ALL/LBL with hypodiploidy (32–39 chromosomes); and high-hypodiploid B-ALL/LBL with hypodiploidy (40–43 chromosomes)<ref name=":13" />. Of note, near-diploid cases (44–45 chromosomes) are not included in the hypodiploid category in clinical therapy–directed classification schemes because they do not share the poor prognosis observed<ref name=":14" />. In a study, for patients with 44 chromosomes, monosomy 7, the presence of a dicentric chromosome, or both predicted a worse EFS but similar OS<ref name=":3" />. | ||
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|Genetic alterations involve ''CDKN2A'' and ''TP53''<ref name=":9" />. | |Genetic alterations involve ''CDKN2A'' and ''TP53''<ref name=":9" />. | ||
|Rare, occurring in approximately 4% of diagnosed cases of hypodiploidy in both children and adults, but with a predominance of the younger group<ref name=":11" /><ref name=":12" />. | |Rare, occurring in approximately 4% of diagnosed cases of hypodiploidy in both children and adults, but with a predominance of the younger group<ref name=":11" /><ref name=":12" />. | ||
|P: Associated with poor prognosis. EFS 75%<ref>{{Cite journal|last=Pui|first=Ching-Hon|last2=Rebora|first2=Paola|last3=Schrappe|first3=Martin|last4=Attarbaschi|first4=Andishe|last5=Baruchel|first5=Andre|last6=Basso|first6=Giuseppe|last7=Cavé|first7=Hélène|last8=Elitzur|first8=Sarah|last9=Koh|first9=Katsuyoshi|date=2019-04-01|title=Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study|url=https://pubmed.ncbi.nlm.nih.gov/30657737|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=37|issue=10|pages=770–779|doi=10.1200/JCO.18.00822|issn=1527-7755|pmc=7051863|pmid=30657737}}</ref>. | |P: Associated with poor prognosis. EFS 75%<ref name=":14">{{Cite journal|last=Pui|first=Ching-Hon|last2=Rebora|first2=Paola|last3=Schrappe|first3=Martin|last4=Attarbaschi|first4=Andishe|last5=Baruchel|first5=Andre|last6=Basso|first6=Giuseppe|last7=Cavé|first7=Hélène|last8=Elitzur|first8=Sarah|last9=Koh|first9=Katsuyoshi|date=2019-04-01|title=Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study|url=https://pubmed.ncbi.nlm.nih.gov/30657737|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=37|issue=10|pages=770–779|doi=10.1200/JCO.18.00822|issn=1527-7755|pmc=7051863|pmid=30657737}}</ref>. | ||
|No (NCCN) | |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. | |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. | ||