MCID: BLY010
MIFTS: 28

B-Lymphoblastic Leukemia/lymphoma with Iamp21

Categories: Blood diseases, Cancer diseases, Immune diseases

Aliases & Classifications for B-Lymphoblastic Leukemia/lymphoma with Iamp21

MalaCards integrated aliases for B-Lymphoblastic Leukemia/lymphoma with Iamp21:

Name: B-Lymphoblastic Leukemia/lymphoma with Iamp21 12 15
Intrachromosomal Amplification of Chromosome 21 12
B-All with Iamp21 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080651
NCIt 49 C130039

Summaries for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Disease Ontology : 12 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.

MalaCards based summary : B-Lymphoblastic Leukemia/lymphoma with Iamp21, also known as intrachromosomal amplification of chromosome 21, is related to childhood b-cell acute lymphoblastic leukemia and childhood leukemia. An important gene associated with B-Lymphoblastic Leukemia/lymphoma with Iamp21 is ETV6 (ETS Variant Transcription Factor 6), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Cell Differentiation - Index. Affiliated tissues include b lymphoblasts, b cells and myeloid, and related phenotypes are cardiovascular system and cellular

Related Diseases for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Diseases related to B-Lymphoblastic Leukemia/lymphoma with Iamp21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 childhood b-cell acute lymphoblastic leukemia 30.0 PAX5 P2RY8 IKZF1 CRLF2
2 childhood leukemia 29.9 PBX1 KMT2A ETV6 ABL1
3 leukemia, acute lymphoblastic 29.8 PBX1 PAX5 KMT2A IKZF1 ETV6 CRLF2
4 leukemia, acute lymphoblastic 3 29.8 PBX1 PAX5 KMT2A IKZF1 ETV6 ABL1
5 acute leukemia 29.6 ZNF384 PAX5 KMT2A ETV6
6 childhood acute lymphocytic leukemia 29.4 PBX1 LOC105377938 IKZF1 ETV6 ABL1
7 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 ETV6 ABL1
8 b-lymphoblastic leukemia/lymphoma, bcr-abl1-like 10.3 IKZF1 ABL1
9 mental retardation, autosomal dominant 29 10.2 PBX1 ABL1
10 lymphoblastic leukemia, acute, with lymphomatous features 10.2 CRLF2 ABL1
11 testicular leukemia 10.2 ETV6 ABL1
12 ring chromosome 21 10.2 KMT2A ETV6
13 ring chromosome 10.2 KMT2A ETV6
14 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.2 KMT2A ETV6
15 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.2 PBX1 ETV6 ABL1
16 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.1 PBX1 ETV6 ABL1
17 lymphoblastic lymphoma 10.1
18 central nervous system hematologic cancer 10.1 PAX5 LCOR
19 mixed phenotype acute leukemia 10.0 KMT2A ABL1
20 atypical chronic myeloid leukemia 10.0 ETV6 ABL1
21 myelodysplastic/myeloproliferative neoplasm 10.0 KMT2A ETV6 ABL1
22 myeloproliferative neoplasm 10.0 KMT2A ETV6 ABL1
23 chronic neutrophilic leukemia 9.9 KMT2A ABL1
24 b-cell adult acute lymphocytic leukemia 9.8 ZNF384 PBX1 IKZF1 ABL1
25 leukemia, chronic myeloid 9.7 KMT2A IKZF1 ETV6 ABL1
26 myeloid sarcoma 9.6 PAX5 KMT2A
27 lymphoma, non-hodgkin, familial 9.6 PAX5 KMT2A IKZF1 ETV6
28 mental retardation, autosomal dominant 33 9.6 PAX5 P2RY8 IKZF1 ETV6 CRLF2 ABL1
29 adult acute lymphocytic leukemia 9.5 PBX1 PAX5 IKZF1 ETV6 CRLF2 ABL1
30 precursor t-cell acute lymphoblastic leukemia 9.4 TLX3 KMT2A IKZF1 ETV6 ABL1
31 hematologic cancer 9.3 PAX5 LCOR KMT2A IKZF1 ETV6 ABL1
32 t-cell acute lymphoblastic leukemia 9.2 TLX3 KMT2A IKZF1 ETV6 CRLF2 ABL1
33 leukemia, acute myeloid 9.1 PBX1 PAX5 LCOR KMT2A IKZF1 ETV6
34 leukemia 8.8 TLX3 PBX1 PAX5 KMT2A IKZF1 ETV6

Graphical network of the top 20 diseases related to B-Lymphoblastic Leukemia/lymphoma with Iamp21:



Diseases related to B-Lymphoblastic Leukemia/lymphoma with Iamp21

Symptoms & Phenotypes for B-Lymphoblastic Leukemia/lymphoma with Iamp21

MGI Mouse Phenotypes related to B-Lymphoblastic Leukemia/lymphoma with Iamp21:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 ABL1 ETV6 IKZF1 KMT2A MEF2D PAX5
2 cellular MP:0005384 9.97 ABL1 CRLF2 EBF1 ETV6 IKZF1 KMT2A
3 hematopoietic system MP:0005397 9.81 ABL1 CRLF2 EBF1 ETV6 IKZF1 KMT2A
4 digestive/alimentary MP:0005381 9.73 ABL1 CRLF2 ETV6 IKZF1 PBX1 TLX3
5 immune system MP:0005387 9.61 ABL1 CRLF2 EBF1 ETV6 IKZF1 KMT2A
6 mortality/aging MP:0010768 9.36 ABL1 CRLF2 EBF1 ETV6 IKZF1 KMT2A

Drugs & Therapeutics for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Search Clinical Trials , NIH Clinical Center for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Genetic Tests for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Anatomical Context for B-Lymphoblastic Leukemia/lymphoma with Iamp21

MalaCards organs/tissues related to B-Lymphoblastic Leukemia/lymphoma with Iamp21:

40
B Lymphoblasts, B Cells, Myeloid

Publications for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Articles related to B-Lymphoblastic Leukemia/lymphoma with Iamp21:

(show all 41)
# Title Authors PMID Year
1
Integrative genomic analysis of B-lymphoblastic lymphoma with intrachromosomal amplification of chromosome 21. 61
32469139 2020
2
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia. 61
31640433 2020
3
iAMP21 in acute myeloid leukemia is associated with complex karyotype, TP53 mutation and dismal outcome. 61
32034282 2020
4
RUNX1 deletion/amplification in therapy-related acute myeloid leukemia: A case report and review of the literature. 61
31425924 2019
5
SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain. 61
30816328 2019
6
Implications of intrachromosomal amplification of chromosome 21 on outcome in pediatric acute lymphoblastic leukemia: Does it affect our patients too? 61
31285807 2019
7
SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia. 61
30005852 2018
8
Advances in B-cell Precursor Acute Lymphoblastic Leukemia Genomics. 61
31723781 2018
9
Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. 61
29449437 2018
10
Is intrachromosomal amplification of chromosome 21 (iAMP21) always intrachromosomal? 61
29153092 2017
11
B lymphoblastic leukemia/lymphoma: new insights into genetics, molecular aberrations, subclassification and targeted therapy. 61
29029550 2017
12
Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia. 61
28736295 2017
13
Intrachromosomal amplification of chromosome 21 in Korean pediatric patients with B-cell precursor acute lymphoblastic leukemia in a single institution. 61
28698845 2017
14
Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia. 61
27374714 2016
15
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia. 61
27090575 2016
16
The role of the RAS pathway in iAMP21-ALL. 61
27168466 2016
17
Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma. 61
27161658 2016
18
Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia. 61
26836400 2016
19
Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases. 61
27895713 2016
20
Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia. 61
26509013 2015
21
Cytogenetic Variation of B-Lymphoblastic Leukemia With Intrachromosomal Amplification of Chromosome 21 (iAMP21): A Multi-Institutional Series Review. 61
26071468 2015
22
Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease. 61
25608562 2015
23
Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population. 61
26060508 2015
24
The genomic landscape of acute lymphoblastic leukemia in children and young adults. 61
25696852 2014
25
Minimal residual disease-based treatment is adequate for relapse-prone childhood acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21: the experience of the ALL-BFM 2000 trial. 61
25431866 2014
26
IGH@ translocations co-exist with other primary rearrangements in B-cell precursor acute lymphoblastic leukemia. 61
24816234 2014
27
An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome. 61
24166298 2014
28
Risk-directed treatment intensification significantly reduces the risk of relapse among children and adolescents with acute lymphoblastic leukemia and intrachromosomal amplification of chromosome 21: a comparison of the MRC ALL97/99 and UKALL2003 trials. 61
23940220 2013
29
Intrachromosomal amplification of chromosome 21 is associated with inferior outcomes in children with acute lymphoblastic leukemia treated in contemporary standard-risk children's oncology group studies: a report from the children's oncology group. 61
23940221 2013
30
Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features. 61
23508010 2013
31
Targeting signaling pathways in acute lymphoblastic leukemia: new insights. 61
24319172 2013
32
Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report. 61
24255623 2013
33
Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy. 61
21487021 2011
34
Genomic characterization implicates iAMP21 as a likely primary genetic event in childhood B-cell precursor acute lymphoblastic leukemia. 61
21527530 2011
35
Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: results from the UK Medical Research Council ALL97/99 randomised trial. 61
20409752 2010
36
Cytogenetics of paediatric and adolescent acute lymphoblastic leukaemia. 61
19006567 2009
37
[Intrachromosomal amplification of AML1 gene in childhood acute lymphoblastic leukemia]. 61
18539581 2008
38
Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemia Berlin-Frankfurt-Munster (ALL-BFM) trials. 61
18565891 2008
39
Intrachromosomal amplification of chromosome 21 (iAMP21) may arise from a breakage-fusion-bridge cycle. 61
17243167 2007
40
Prognosis of children with acute lymphoblastic leukemia (ALL) and intrachromosomal amplification of chromosome 21 (iAMP21). 61
17095619 2007
41
Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. 61
16702559 2006

Variations for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Expression for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Search GEO for disease gene expression data for B-Lymphoblastic Leukemia/lymphoma with Iamp21.

Pathways for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Pathways related to B-Lymphoblastic Leukemia/lymphoma with Iamp21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.3 TLX3 PBX1 PAX5 KMT2A ETV6
2 10.54 TLX3 MEF2D

GO Terms for B-Lymphoblastic Leukemia/lymphoma with Iamp21

Cellular components related to B-Lymphoblastic Leukemia/lymphoma with Iamp21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 TLX3 PBX1 PAX5 MEF2D ETV6 EBF1

Biological processes related to B-Lymphoblastic Leukemia/lymphoma with Iamp21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.63 TLX3 PBX1 PAX5 MEF2D IKZF1 EBF1
2 regulation of transcription, DNA-templated GO:0006355 9.56 TLX3 PBX1 PAX5 MEF2D KMT2A ETV6
3 spleen development GO:0048536 9.32 PBX1 ABL1
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.28 TLX3 PBX1 PAX5 MEF2D KMT2A IKZF1
5 embryonic hemopoiesis GO:0035162 9.26 PBX1 KMT2A

Molecular functions related to B-Lymphoblastic Leukemia/lymphoma with Iamp21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TLX3 PBX1 PAX5 MEF2D IKZF1 ETV6
2 DNA-binding transcription factor activity GO:0003700 9.8 TLX3 PBX1 PAX5 MEF2D IKZF1 ETV6
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.67 PBX1 MEF2D IKZF1 ETV6
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 TLX3 PBX1 PAX5 MEF2D ETV6 EBF1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 TLX3 PBX1 PAX5 MEF2D LCOR KMT2A
6 DNA binding GO:0003677 9.36 ZNF384 TLX3 PBX1 PAX5 MEF2D LCOR

Sources for B-Lymphoblastic Leukemia/lymphoma with Iamp21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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