Bailey.Glen: Created page with "{{Under Construction}} ==Primary Author(s)*== Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG TOC ==Cancer Category/Type== B-Lymphoblastic Leukemia/Lymphoma ==Ca..."

2023-11-03T17:37:50Z

Created page with "{{Under Construction}} ==Primary Author(s)*== Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG __TOC__ ==Cancer Category/Type== B-Lymphoblastic Leukemia/Lymphoma ==Ca..."

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==Primary Author(s)*==

Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG

__TOC__

==Cancer Category/Type==

B-Lymphoblastic Leukemia/Lymphoma

==Cancer Sub-Classification / Subtype==

B-Lymphoblastic Leukemia/Lymphoma with hyperdiploidy

==Definition / Description of Disease==

B-ALL with hyperdiploidy is a neoplasm of lymphoblasts committed to the B-cell lineage whose blasts contain >50 chromosome (usually <66), typically without translocations or other structural alterations.

In the context of B-ALL, hyperdiploidy is further subdivided into two groups including low hyperdiploidy (47–50 chromosomes) and high hyperdiploidy ( > 50 chromosomes) with some studies further defining the high hyperdiploid subgroup as those with a modal chromosome number of 51–68. <ref>{{Cite journal|last=Groeneveld-Krentz|first=Stefanie|last2=Schroeder|first2=Michael P.|last3=Reiter|first3=Michael|last4=Pogodzinski|first4=Malwine J.|last5=Pimentel-Gutiérrez|first5=Helia J.|last6=Vagkopoulou|first6=Renia|last7=Hof|first7=Jana|last8=Chen-Santel|first8=Christiane|last9=Nebral|first9=Karin|date=04 2019|title=Aneuploidy in children with relapsed B-cell precursor acute lymphoblastic leukaemia: clinical importance of detecting a hypodiploid origin of relapse|url=https://pubmed.ncbi.nlm.nih.gov/30714092|journal=British Journal of Haematology|volume=185|issue=2|pages=266–283|doi=10.1111/bjh.15770|issn=1365-2141|pmid=30714092}}</ref> <ref>{{Cite journal|last=Chessels|first=J. M.|last2=Swansbury|first2=G. J.|last3=Reeves|first3=B.|last4=Bailey|first4=C. C.|last5=Richards|first5=S. M.|date=1997-10|title=Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X. Medical Research Council Working Party in Childhood Leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/9359508|journal=British Journal of Haematology|volume=99|issue=1|pages=93–100|doi=10.1046/j.1365-2141.1997.3493163.x|issn=0007-1048|pmid=9359508}}</ref> <ref>{{Cite journal|last=Reismüller|first=Bettina|last2=Steiner|first2=Manuel|last3=Pichler|first3=Herbert|last4=Dworzak|first4=Michael|last5=Urban|first5=Christian|last6=Meister|first6=Bernhard|last7=Schmitt|first7=Klaus|last8=Pötschger|first8=Ulrike|last9=König|first9=Margit|date=06 2017|title=High hyperdiploid acute lymphoblastic leukemia (ALL)-A 25-year population-based survey of the Austrian ALL-BFM (Berlin-Frankfurt-Münster) Study Group|url=https://pubmed.ncbi.nlm.nih.gov/27804199|journal=Pediatric Blood & Cancer|volume=64|issue=6|doi=10.1002/pbc.26327|issn=1545-5017|pmid=27804199}}</ref> <ref>{{Cite journal|last=Paulsson|first=Kajsa|last2=Lilljebjörn|first2=Henrik|last3=Biloglav|first3=Andrea|last4=Olsson|first4=Linda|last5=Rissler|first5=Marianne|last6=Castor|first6=Anders|last7=Barbany|first7=Gisela|last8=Fogelstrand|first8=Linda|last9=Nordgren|first9=Ann|date=2015-06|title=The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25961940|journal=Nature Genetics|volume=47|issue=6|pages=672–676|doi=10.1038/ng.3301|issn=1546-1718|pmid=25961940}}</ref>

==Synonyms / Terminology==

Put your text here

==Epidemiology / Prevalence==

The incidence of hyperdiploidy in B-ALL decreases with age: <ref>{{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><ref>{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Lilljebjörn|first3=Henrik|last4=Heldrup|first4=Jesper|last5=Behrendtz|first5=Mikael|last6=Young|first6=Bryan D.|last7=Johansson|first7=Bertil|date=2010-12-14|title=Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21098271|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=107|issue=50|pages=21719–21724|doi=10.1073/pnas.1006981107|issn=1091-6490|pmc=3003126|pmid=21098271}}</ref><ref>{{Cite journal|last=Paulsson|first=Kajsa|last2=Johansson|first2=Bertil|date=2009-08|title=High hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/19415723|journal=Genes, Chromosomes & Cancer|volume=48|issue=8|pages=637–660|doi=10.1002/gcc.20671|issn=1098-2264|pmid=19415723}}</ref><ref>{{Cite journal|last=Mullighan|first=Charles G.|date=2014-12-05|title=The genomic landscape of acute lymphoblastic leukemia in children and young adults|url=https://pubmed.ncbi.nlm.nih.gov/25696852|journal=Hematology. American Society of Hematology. Education Program|volume=2014|issue=1|pages=174–180|doi=10.1182/asheducation-2014.1.174|issn=1520-4383|pmid=25696852}}</ref><ref>{{Cite journal|last=Okamoto|first=Ryoko|last2=Ogawa|first2=Seishi|last3=Nowak|first3=Daniel|last4=Kawamata|first4=Norihiko|last5=Akagi|first5=Tadayuki|last6=Kato|first6=Motohiro|last7=Sanada|first7=Masashi|last8=Weiss|first8=Tamara|last9=Haferlach|first9=Claudia|date=2010-09|title=Genomic profiling of adult acute lymphoblastic leukemia by single nucleotide polymorphism oligonucleotide microarray and comparison to pediatric acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/20435627|journal=Haematologica|volume=95|issue=9|pages=1481–1488|doi=10.3324/haematol.2009.011114|issn=1592-8721|pmc=2930948|pmid=20435627}}</ref>

* approximately 25% of pediatric patients (ages 1–9 years)

* approximately 10% of adolescents (ages 10–15 years)

* approximately 5–7% of adults (age > 19 years)

==Clinical Features==

The presenting features are generally similar to those seen in patients with other ALLs.

==Sites of Involvement==

Put your text here

==Morphologic Features==

Put your text here

==Immunophenotype==

Put your text here and/or fill in the table

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||CD19, CD10
|-
|Positive (subset)||CD34
|-
|Negative (universal)||CD45
|-
|Negative (subset)||EXAMPLE CD4
|}

==Chromosomal Rearrangements (Gene Fusions)==

Put your text here and/or fill in the table

{| class="wikitable sortable"
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
|-
|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
|}

==Characteristic Chromosomal Aberrations / Patterns==

* Numerical increase in chromosomes usually without structural abnormalities

* Extra copies of chromosomes are non-random.

==Genomic Gain/Loss/LOH==

* Gains of chromosomes X, 4, 6, 10, 14, 17, 18 and 21 are most common with the following frequencies:
** 21 (98%)
** X (90%)
** 6 (83%)
** 14 (83%)
** 18 (78%)
** 4 (77%)
** 17 (73%)
** 10 (71%)
** 8 (38%)

<ref>{{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> <ref>{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Lilljebjörn|first3=Henrik|last4=Heldrup|first4=Jesper|last5=Behrendtz|first5=Mikael|last6=Young|first6=Bryan D.|last7=Johansson|first7=Bertil|date=2010-12-14|title=Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21098271|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=107|issue=50|pages=21719–21724|doi=10.1073/pnas.1006981107|issn=1091-6490|pmc=3003126|pmid=21098271}}</ref> <ref>{{Cite journal|last=Paulsson|first=Kajsa|last2=Johansson|first2=Bertil|date=2009-08|title=High hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/19415723|journal=Genes, Chromosomes & Cancer|volume=48|issue=8|pages=637–660|doi=10.1002/gcc.20671|issn=1098-2264|pmid=19415723}}</ref>
{| class="wikitable sortable"
|-
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
|-
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
|-
|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
|}

==Gene Mutations (SNV/INDEL)==

Put your text here and/or fill in the tables

{| class="wikitable sortable"
|-
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
|-
|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
|}

===Other Mutations===
{| class="wikitable sortable"
|-
!Type!!Gene/Region/Other
|-
|Concomitant Mutations||EXAMPLE IDH1 R123H
|-
|Secondary Mutations||EXAMPLE Trisomy 7
|-
|Mutually Exclusive||EXAMPLE EGFR Amplification
|}

==Epigenomics (Methylation)==

Put your text here

==Genes and Main Pathways Involved==

Put your text here

==Diagnostic Testing Methods==

Hyperdiploidy is readily identifiable by conventional chromosome studies, FISH and CMA. CMA studies have shown that approximately 80% of hyperdiploid cases have additional genomic abnormalities with chromosomes commonly involved being 1, 9, 11, 12, and X.

<ref>{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Lilljebjörn|first3=Henrik|last4=Heldrup|first4=Jesper|last5=Behrendtz|first5=Mikael|last6=Young|first6=Bryan D.|last7=Johansson|first7=Bertil|date=2010-12-14|title=Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21098271|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=107|issue=50|pages=21719–21724|doi=10.1073/pnas.1006981107|issn=1091-6490|pmc=3003126|pmid=21098271}}</ref> <ref>{{Cite journal|last=Schraders|first=Margit|last2=van Reijmersdal|first2=Simon V.|last3=Kamping|first3=Eveline J.|last4=van Krieken|first4=Johan H. J. M.|last5=van Kessel|first5=Ad Geurts|last6=Groenen|first6=Patricia J. T. A.|last7=Hoogerbrugge|first7=Peter M.|last8=Kuiper|first8=Roland P.|date=2009-05|title=High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage|url=https://pubmed.ncbi.nlm.nih.gov/19389505|journal=Cancer Genetics and Cytogenetics|volume=191|issue=1|pages=27–33|doi=10.1016/j.cancergencyto.2009.01.002|issn=1873-4456|pmid=19389505}}</ref><ref>{{Cite journal|last=Steeghs|first=Elisabeth M. P.|last2=Boer|first2=Judith M.|last3=Hoogkamer|first3=Alex Q.|last4=Boeree|first4=Aurélie|last5=de Haas|first5=Valerie|last6=de Groot-Kruseman|first6=Hester A.|last7=Horstmann|first7=Martin A.|last8=Escherich|first8=Gabriele|last9=Pieters|first9=Rob|date=03 15, 2019|title=Copy number alterations in B-cell development genes, drug resistance, and clinical outcome in pediatric B-cell precursor acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/30874617|journal=Scientific Reports|volume=9|issue=1|pages=4634|doi=10.1038/s41598-019-41078-4|issn=2045-2322|pmc=6420659|pmid=30874617}}</ref><ref>{{Cite journal|last=Lejman|first=Monika|last2=Zawitkowska|first2=Joanna|last3=Styka|first3=Borys|last4=Babicz|first4=Mariusz|last5=Winnicka|first5=Dorota|last6=Zaucha-Prażmo|first6=Agnieszka|last7=Pastorczak|first7=Agata|last8=Taha|first8=Joanna|last9=Młynarski|first9=Wojciech|date=08 2019|title=Microarray testing as an efficient tool to redefine hyperdiploid paediatric B-cell precursor acute lymphoblastic leukaemia patients|url=https://pubmed.ncbi.nlm.nih.gov/31202078|journal=Leukemia Research|volume=83|pages=106163|doi=10.1016/j.leukres.2019.05.013|issn=1873-5835|pmid=31202078}}</ref>

==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==

* Pediatric patients with high hyperdiploidy have been reported to have a favorable prognosis with cure seen in >90% of children <ref>{{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>
* High event-free survival (EFS) was associated with trisomy 4, 6, 17, 18, and 22, presence of triple trisomies (4, 10, 17), and high modal numbers ( > 50 chromosomes) <ref>{{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>
* Negative prognostic features include > 10 years of age, male gender, and bone marrow fibrosis <ref>{{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>
* Patients with low hyperdiploidy have been reported to have a 49% EFS at 5 years compared to those with high hyperdiploidy with a five-year EFS of 71% <ref>{{Cite journal|last=Chessels|first=J. M.|last2=Swansbury|first2=G. J.|last3=Reeves|first3=B.|last4=Bailey|first4=C. C.|last5=Richards|first5=S. M.|date=1997-10|title=Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X. Medical Research Council Working Party in Childhood Leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/9359508|journal=British Journal of Haematology|volume=99|issue=1|pages=93–100|doi=10.1046/j.1365-2141.1997.3493163.x|issn=0007-1048|pmid=9359508}}</ref>
* Familial Forms

==Other Information==

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==Links==

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==References==
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<references />
===EXAMPLE Book===

#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

[[Category:Karyotypic Patterns]]
[[Copy Number and cn-LOH Abnormalities in ALL]
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HAEM4Backup:B-Lymphoblastic Leukemia/Lymphoma with Hyperdiploidy - Revision history

Bailey.Glen: Created page with "{{Under Construction}} ==Primary Author(s)*== Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG __TOC__ ==Cancer Category/Type== B-Lymphoblastic Leukemia/Lymphoma ==Ca..."

Bailey.Glen: Created page with "{{Under Construction}} ==Primary Author(s)*== Afia Hasnain, MBBS, PhD; Yassmine Akkari, PhD, FACMG TOC ==Cancer Category/Type== B-Lymphoblastic Leukemia/Lymphoma ==Ca..."