HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy: Difference between revisions
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{{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with hypodiploidy}} | {{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with hypodiploidy}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | ||
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This category is not often included in hypodiploid. | This category is not often included in hypodiploid. | ||
'''Note: A slight variation in the range of chromosome number has been reported in the literature in the classification of NH, LH, HH and NH'''<ref name=":0" /><ref name=":1">{{Cite journal|last=Terwilliger|first=T.|last2=Abdul-Hay|first2=M.|date=2017|title=Acute lymphoblastic leukemia: a comprehensive review and 2017 update|url=https://www.ncbi.nlm.nih.gov/pubmed/28665419|journal=Blood Cancer Journal|volume=7|issue=6|pages=e577|doi=10.1038/bcj.2017.53|issn=2044-5385|pmc=5520400|pmid=28665419}}</ref><ref name=":2" /><ref name=":5" /><ref name=":3" /><ref>{{Cite journal|last=Safavi|first=Setareh|last2=Paulsson|first2=Kajsa|date=2017|title=Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis|url=https://www.ncbi.nlm.nih.gov/pubmed/27903530|journal=Blood|volume=129|issue=4|pages=420–423|doi=10.1182/blood-2016-10-743765|issn=1528-0020|pmid=27903530}}</ref><ref>{{Cite journal|last=Mehta|first=Parinda A.|last2=Zhang|first2=Mei-Jie|last3=Eapen|first3=Mary|last4=He|first4=Wensheng|last5=Seber|first5=Adriana|last6=Gibson|first6=Brenda|last7=Camitta|first7=Bruce M.|last8=Kitko|first8=Carrie L.|last9=Dvorak|first9=Christopher C.|date=2015|title=Transplantation Outcomes for Children with Hypodiploid Acute Lymphoblastic Leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/25865650|journal=Biology of Blood and Marrow Transplantation: Journal of the American Society for Blood and Marrow Transplantation|volume=21|issue=7|pages=1273–1277|doi=10.1016/j.bbmt.2015.04.008|issn=1523-6536|pmc=4465998|pmid=25865650}}</ref><ref>{{Cite journal|last=Mullighan|first=Charles G.|date=2012|title=Molecular genetics of B-precursor acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/23023711|journal=The Journal of Clinical Investigation|volume=122|issue=10|pages=3407–3415|doi=10.1172/JCI61203|issn=1558-8238|pmc=3461902|pmid=23023711}}</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|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia|url=https://www.ncbi.nlm.nih.gov/pubmed/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>{{Cite journal|last=Wang|first=Yunhong|last2=Miller|first2=Sue|last3=Roulston|first3=Diane|last4=Bixby|first4=Dale|last5=Shao|first5=Lina|date=2016|title=Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma|url=https://www.ncbi.nlm.nih.gov/pubmed/27161658|journal=The Journal of molecular diagnostics: JMD|volume=18|issue=4|pages=595–603|doi=10.1016/j.jmoldx.2016.03.004|issn=1943-7811|pmid=27161658}}</ref><ref>{{Cite journal|last=Safavi|first=Setareh|last2=Olsson|first2=Linda|last3=Biloglav|first3=Andrea|last4=Veerla|first4=Srinivas|last5=Blendberg|first5=Molly|last6=Tayebwa|first6=Johnbosco|last7=Behrendtz|first7=Mikael|last8=Castor|first8=Anders|last9=Hansson|first9=Markus|date=2015|title=Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/26544893|journal=Oncotarget|volume=6|issue=40|pages=42793–42802|doi=10.18632/oncotarget.6000|issn=1949-2553|pmc=4767471|pmid=26544893}}</ref> <ref>{{Cite journal|last=Moorman|first=Anthony V.|date=2016|title=New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/27033238|journal=Haematologica|volume=101|issue=4|pages=407–416|doi=10.3324/haematol.2015.141101|issn=1592-8721|pmc=5004393|pmid=27033238}}</ref><ref>{{Cite journal|last=Fang|first=Min|last2=Becker|first2=Pamela S.|last3=Linenberger|first3=Michael|last4=Eaton|first4=Keith D.|last5=Appelbaum|first5=Frederick R.|last6=Dreyer|first6=ZoAnn|last7=Airewele|first7=Gladstone|last8=Redell|first8=Michele|last9=Lopez-Terrada|first9=Dolores|date=2015|title=Adult Low-Hypodiploid Acute B-Lymphoblastic Leukemia With IKZF3 Deletion and TP53 Mutation: Comparison With Pediatric Patients|url=https://www.ncbi.nlm.nih.gov/pubmed/26185311|journal=American Journal of Clinical Pathology|volume=144|issue=2|pages=263–270|doi=10.1309/AJCPW83OXPYKPEEN|issn=1943-7722|pmid=26185311}}</ref><ref>{{Cite journal|last=Mühlbacher|first=Verena|last2=Zenger|first2=Melanie|last3=Schnittger|first3=Susanne|last4=Weissmann|first4=Sandra|last5=Kunze|first5=Franziska|last6=Kohlmann|first6=Alexander|last7=Bellos|first7=Frauke|last8=Kern|first8=Wolfgang|last9=Haferlach|first9=Torsten|date=2014|title=Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%|url=https://www.ncbi.nlm.nih.gov/pubmed/24619868|journal=Genes, Chromosomes & Cancer|volume=53|issue=6|pages=524–536|doi=10.1002/gcc.22163|issn=1098-2264|pmid=24619868}}</ref><ref>{{Cite journal|last=Woo|first=Jennifer S.|last2=Alberti|first2=Michael O.|last3=Tirado|first3=Carlos A.|date=2014|title=Childhood B-acute lymphoblastic leukemia: a genetic update|url=https://www.ncbi.nlm.nih.gov/pubmed/24949228|journal=Experimental Hematology & Oncology|volume=3|pages=16|doi=10.1186/2162-3619-3-16|issn=2162-3619|pmc=4063430|pmid=24949228}}</ref><ref>{{Cite journal|last=Collins-Underwood|first=J. R.|last2=Mullighan|first2=C. G.|date=2010|title=Genomic profiling of high-risk acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/20739952|journal=Leukemia|volume=24|issue=10|pages=1676–1685|doi=10.1038/leu.2010.177|issn=1476-5551|pmid=20739952}}</ref><ref name=":4">Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD (2018). Acute lymphoblastic leukemia (ALL). Medscape. emedicine, Medscape Article, Drugs & Diseases, Hematology.</ref> '''[1-17].''' | '''Note: A slight variation in the range of chromosome number has been reported in the literature in the classification of NH, LH, HH and NH'''<ref name=":0" /><ref name=":1">{{Cite journal|last=Terwilliger|first=T.|last2=Abdul-Hay|first2=M.|date=2017|title=Acute lymphoblastic leukemia: a comprehensive review and 2017 update|url=https://www.ncbi.nlm.nih.gov/pubmed/28665419|journal=Blood Cancer Journal|volume=7|issue=6|pages=e577|doi=10.1038/bcj.2017.53|issn=2044-5385|pmc=5520400|pmid=28665419}}</ref><ref name=":2" /><ref name=":5" /><ref name=":3" /><ref>{{Cite journal|last=Safavi|first=Setareh|last2=Paulsson|first2=Kajsa|date=2017|title=Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis|url=https://www.ncbi.nlm.nih.gov/pubmed/27903530|journal=Blood|volume=129|issue=4|pages=420–423|doi=10.1182/blood-2016-10-743765|issn=1528-0020|pmid=27903530}}</ref><ref>{{Cite journal|last=Mehta|first=Parinda A.|last2=Zhang|first2=Mei-Jie|last3=Eapen|first3=Mary|last4=He|first4=Wensheng|last5=Seber|first5=Adriana|last6=Gibson|first6=Brenda|last7=Camitta|first7=Bruce M.|last8=Kitko|first8=Carrie L.|last9=Dvorak|first9=Christopher C.|date=2015|title=Transplantation Outcomes for Children with Hypodiploid Acute Lymphoblastic Leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/25865650|journal=Biology of Blood and Marrow Transplantation: Journal of the American Society for Blood and Marrow Transplantation|volume=21|issue=7|pages=1273–1277|doi=10.1016/j.bbmt.2015.04.008|issn=1523-6536|pmc=4465998|pmid=25865650}}</ref><ref>{{Cite journal|last=Mullighan|first=Charles G.|date=2012|title=Molecular genetics of B-precursor acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/23023711|journal=The Journal of Clinical Investigation|volume=122|issue=10|pages=3407–3415|doi=10.1172/JCI61203|issn=1558-8238|pmc=3461902|pmid=23023711}}</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|title=Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia|url=https://www.ncbi.nlm.nih.gov/pubmed/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>{{Cite journal|last=Wang|first=Yunhong|last2=Miller|first2=Sue|last3=Roulston|first3=Diane|last4=Bixby|first4=Dale|last5=Shao|first5=Lina|date=2016|title=Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma|url=https://www.ncbi.nlm.nih.gov/pubmed/27161658|journal=The Journal of molecular diagnostics: JMD|volume=18|issue=4|pages=595–603|doi=10.1016/j.jmoldx.2016.03.004|issn=1943-7811|pmid=27161658}}</ref><ref>{{Cite journal|last=Safavi|first=Setareh|last2=Olsson|first2=Linda|last3=Biloglav|first3=Andrea|last4=Veerla|first4=Srinivas|last5=Blendberg|first5=Molly|last6=Tayebwa|first6=Johnbosco|last7=Behrendtz|first7=Mikael|last8=Castor|first8=Anders|last9=Hansson|first9=Markus|date=2015|title=Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/26544893|journal=Oncotarget|volume=6|issue=40|pages=42793–42802|doi=10.18632/oncotarget.6000|issn=1949-2553|pmc=4767471|pmid=26544893}}</ref> <ref>{{Cite journal|last=Moorman|first=Anthony V.|date=2016|title=New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/27033238|journal=Haematologica|volume=101|issue=4|pages=407–416|doi=10.3324/haematol.2015.141101|issn=1592-8721|pmc=5004393|pmid=27033238}}</ref><ref>{{Cite journal|last=Fang|first=Min|last2=Becker|first2=Pamela S.|last3=Linenberger|first3=Michael|last4=Eaton|first4=Keith D.|last5=Appelbaum|first5=Frederick R.|last6=Dreyer|first6=ZoAnn|last7=Airewele|first7=Gladstone|last8=Redell|first8=Michele|last9=Lopez-Terrada|first9=Dolores|date=2015|title=Adult Low-Hypodiploid Acute B-Lymphoblastic Leukemia With IKZF3 Deletion and TP53 Mutation: Comparison With Pediatric Patients|url=https://www.ncbi.nlm.nih.gov/pubmed/26185311|journal=American Journal of Clinical Pathology|volume=144|issue=2|pages=263–270|doi=10.1309/AJCPW83OXPYKPEEN|issn=1943-7722|pmid=26185311}}</ref><ref name=":6">{{Cite journal|last=Mühlbacher|first=Verena|last2=Zenger|first2=Melanie|last3=Schnittger|first3=Susanne|last4=Weissmann|first4=Sandra|last5=Kunze|first5=Franziska|last6=Kohlmann|first6=Alexander|last7=Bellos|first7=Frauke|last8=Kern|first8=Wolfgang|last9=Haferlach|first9=Torsten|date=2014|title=Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%|url=https://www.ncbi.nlm.nih.gov/pubmed/24619868|journal=Genes, Chromosomes & Cancer|volume=53|issue=6|pages=524–536|doi=10.1002/gcc.22163|issn=1098-2264|pmid=24619868}}</ref><ref>{{Cite journal|last=Woo|first=Jennifer S.|last2=Alberti|first2=Michael O.|last3=Tirado|first3=Carlos A.|date=2014|title=Childhood B-acute lymphoblastic leukemia: a genetic update|url=https://www.ncbi.nlm.nih.gov/pubmed/24949228|journal=Experimental Hematology & Oncology|volume=3|pages=16|doi=10.1186/2162-3619-3-16|issn=2162-3619|pmc=4063430|pmid=24949228}}</ref><ref>{{Cite journal|last=Collins-Underwood|first=J. R.|last2=Mullighan|first2=C. G.|date=2010|title=Genomic profiling of high-risk acute lymphoblastic leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/20739952|journal=Leukemia|volume=24|issue=10|pages=1676–1685|doi=10.1038/leu.2010.177|issn=1476-5551|pmid=20739952}}</ref><ref name=":4">Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD (2018). Acute lymphoblastic leukemia (ALL). Medscape. emedicine, Medscape Article, Drugs & Diseases, Hematology.</ref> '''[1-17].''' | ||
Sorting patients into these three rare groups is easy. However, detecting the presence of a masked low-hypodiploid/masked near-hypodiploid group, which is endoreduplication of the low- and near-haploid groups and associated with a very poor prognosis, is difficult. Often karyotypes in these two groups, usually ranging from 56-78 chromosomes, are mistaken for hyperdiploidy/near-triploidy, which in itself is associated with a good prognosis. The key is to look for trisomies vs tetrasomies of the chromosomes. Typically, hyperdiploidy/near-triploidy should have three copies of several chromosomes (usually the X, 4, 10, 17, and 18), and four copies of 14 and 21. However, the masked low-hypodiploid/masked near-hypodiploid groups should show tetrasomies for the sex chromosomes and chromosomes 1, 14, 18, 21, and 22 while having only two copies of chromosomes 7 and 17. | Sorting patients into these three rare groups is easy. However, detecting the presence of a masked low-hypodiploid/masked near-hypodiploid group, which is endoreduplication of the low- and near-haploid groups and associated with a very poor prognosis, is difficult. Often karyotypes in these two groups, usually ranging from 56-78 chromosomes, are mistaken for hyperdiploidy/near-triploidy, which in itself is associated with a good prognosis. The key is to look for trisomies vs tetrasomies of the chromosomes. Typically, hyperdiploidy/near-triploidy should have three copies of several chromosomes (usually the X, 4, 10, 17, and 18), and four copies of 14 and 21. However, the masked low-hypodiploid/masked near-hypodiploid groups should show tetrasomies for the sex chromosomes and chromosomes 1, 14, 18, 21, and 22 while having only two copies of chromosomes 7 and 17. | ||
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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
| | |''TP53''<br /> | ||
|The majority are missense mutations located in exon 7, exon 8, exon 6, and exon 5. Less frequent frameshift mutations in exon 4 and 7 have been described<ref name=":6" />. In general are predicted to be loss of function (LOF) mutations. | |||
<br /> | |Tumor Supressor Gene | ||
|< | |Common (>90%) | ||
| | |No established significance | ||
| | |No | ||
| | |||
| | |||
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references). | |<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references). | ||
|- | |- | ||