ORPHA:99860
Precursor B-cell acute lymphoblastic leukemia
Synonyms: B-ALL · Precursor B-cell acute lymphoblastic leukemia/lymphoma · Precursor B-cell acute lymphocytic leukemia · Precursor B-cell acute lymphocytic leukemia/lymphoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Precursor B-cell acute lymphoblastic leukemia | B-ALL · Precursor B-cell acute lymphoblastic leukemia/lymphoma · Precursor B-cell acute lymphocytic leukemia · Precursor B-cell acute lymphocytic leukemia/lymphoma |
| fr | Leucémie aiguë lymphoblastique à précurseurs B | B-ALL · LAL-B · Leucémie aiguë lymphocytique à précurseurs B · Leucémie/lymphome aiguë lymphoblastique à précurseurs B · Leucémie/lymphome aiguë lymphocytique à précurseurs B |
| de | Akute lymphoblastische B-Vorläuferzell-Leukämie | B-ALL · B-Vorläuferzell-Leukämie/Lymphom, akut lymphoblastisch · Vorläufer B-Zell-lymphoblastische Leukämie/lymphoblastisches Lymphom |
| es | Leucemia linfoblástica aguda de precursores de células B | LLA-B · Leucemia linfocítica aguda de precursores de células B · Leucemia/linfoma linfoblástico agudo de precursores de células B · Leucemia/linfoma linfocítico agudo de precursores de células B |
| it | Leucemia linfoblastica acuta da precursori delle cellule B | Leucemia/linfoma linfocitica acuta da precursori delle cellule B · B-ALL · Leucemia linfocitica acuta da precursori delle cellule B · Leucemia/linfoma linfoblastica acuta da precursori delle cellule B |
| nl | Precursor B-cel acute lymfoblastische leukemie | B-ALL · Precursor B-cel acute lymfoblastische leukemie/lymfoom · Precursor B-cel acute lymfocytische leukemie · Precursor B-cel acute lymfocytische leukemie/lymfoom |
| pt | Leucemia, células percussoras B linfoblásticas, aguda | |
| pl | Ostra białaczka limfoblastyczna z prekursorowych komórek B | B-ALL · Ostra białaczka limfocytowa z prekursorowych komórek B · Ostra białaczka/chłoniak limfoblastyczna z prekursorowych komórek B · Ostra białaczka/chłoniak limfocytowa z prekursorowych komórek B |
| cs | Akutní lymfoblastická leukémie z prekurzorů B-buněk | B-ALL · Akutní lymfoblastická leukémie/lymfom s prekurzory B-buněk · Akutní lymfocytická leukémie s prekurzory B-buněk · Akutní lymfocytická leukémie/lymfom s prekurzory B-buněk |
| uk | Гостра пре-В-клітинна лімфобластна лейкемія | B-ALL · Пре В-клітинна гостра лімфобластна лейкемія/лімфома · Пре В-клітинна гостраї лімфоцитарна лейкемія · Пре В-клітинна гостра лімфоцитарна лейкемія/лімфома |
| zh | 前体B细胞急性淋巴细胞白血病 | 前体B细胞急性淋巴细胞白血病/淋巴瘤 |
| tr | Prekürsör B hücreli akut lenfoblastik lösemi | B-ALL · Öncü B hücreli akut lenfositik lösemi · Öncül B hücreli akut lenfositik lösemi/lenfoma · Öncü B hücreli akut lenfoblastik lösemi/lenfoma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615545 | BTNT | validated | |
| ICD-10 | C91.0 | NTBT | attributed | validated |
| ICD-11 | 2A70 | E | specific | validated |
| MONDO | 0020511 | E | validated | |
| UMLS | C0349636 | E | validated | |
| MedDRA | 10066109 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:513Acute lymphoblastic leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
Children (9):
- ORPHA:585936B-lymphoblastic leukemia/lymphoma with hyperdiploidy
- ORPHA:585942B-lymphoblastic leukemia/lymphoma with hypodiploidy
- ORPHA:585929B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
- ORPHA:641375B-lymphoblastic leukemia/lymphoma with t(17;19)
- ORPHA:585956B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
- ORPHA:585948B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
- ORPHA:641372B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
- ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
- ORPHA:585918B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Codes that Orphanet moved or referred to this one:
- ORPHA:585877OBSOLETE: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality referred to · inactive
4
Genes
0 direct · 18 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CDKN2A | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Biomarker tested in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 18838613[PMID] |
| IKZF1 | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Biomarker tested in | Assessed | HGNC:13176 | ENSG00000185811 | 603023 | 7p12.2 | IKAROS family zinc finger 1 | 19129520[PMID]_23751147[PMID]_19770381[PMID]_18408710[PMID] |
| TP53 | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Biomarker tested in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 34218582[PMID] |
| FLT3 | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Disease-causing somatic mutation(s) in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 16234090[PMID] |
| GATA3 | ORPHA:585936B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Major susceptibility factor in | Assessed | HGNC:4172 | ENSG00000107485 | 131320 | 10p14 | GATA binding protein 3 | 23996088[PMID]_24141364[PMID]_24203929[PMID] |
| HLA-C | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Major susceptibility factor in | Assessed | HGNC:4933 | ENSG00000204525 | 142840 | 6p21.33 | major histocompatibility complex, class I, C | 25163702[PMID] |
| PIP4K2A | ORPHA:585936B-lymphoblastic leukemia/lymphoma with hyperdiploidy | Major susceptibility factor in | Assessed | HGNC:8997 | ENSG00000150867 | 603140 | 10p12.2 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | 23996088[PMID] |
| ABL1 | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Part of a fusion gene in | Assessed | HGNC:76 | ENSG00000097007 | 189980 | 9q34.12 | ABL proto-oncogene 1, non-receptor tyrosine kinase | 30561755[PMID] |
| AUTS2 | ORPHA:641372B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) | Part of a fusion gene in | Assessed | HGNC:14262 | ENSG00000158321 | 607270 | 7q11.22 | activator of transcription and developmental regulator AUTS2 | 22578776[PMID] |
| BCR | ORPHA:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Part of a fusion gene in | Assessed | HGNC:1014 | ENSG00000186716 | 151410 | 22q11.23 | BCR activator of RhoGEF and GTPase | 23491079[PMID] |
| ETV6 | ORPHA:585929B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | Part of a fusion gene in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | 23491079[PMID] |
| HLF | ORPHA:641375B-lymphoblastic leukemia/lymphoma with t(17;19) | Part of a fusion gene in | Assessed | HGNC:4977 | ENSG00000108924 | 142385 | 17q22 | HLF transcription factor, PAR bZIP family member | 20519628[PMID] |
| IGH | ORPHA:585948B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) | Part of a fusion gene in | Assessed | HGNC:5477 | 146910 | 14q32.33 | immunoglobulin heavy locus | 1554798[PMID] | |
| KMT2A | ORPHA:585918B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) | Part of a fusion gene in | Assessed | HGNC:7132 | ENSG00000118058 | 159555 | 11q23.3 | lysine methyltransferase 2A | 30487223[PMID] |
| PAX5 | ORPHA:641372B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) | Part of a fusion gene in | Assessed | HGNC:8619 | ENSG00000196092 | 167414 | 9p13.2 | paired box 5 | 21962897[PMID]_22578776[PMID]_17179230[PMID] |
| PBX1 | ORPHA:585956B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Part of a fusion gene in | Assessed | HGNC:8632 | ENSG00000185630 | 176310 | 1q23.3 | PBX homeobox 1 | 31575852[PMID] |
| TCF3 | ORPHA:585956B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Part of a fusion gene in | Assessed | HGNC:11633 | ENSG00000071564 | 147141 | 19p13.3 | transcription factor 3 | 31575852[PMID] |
| TCF3 | ORPHA:641375B-lymphoblastic leukemia/lymphoma with t(17;19) | Part of a fusion gene in | Assessed | HGNC:11633 | ENSG00000071564 | 147141 | 19p13.3 | transcription factor 3 | 23346431[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99860
- This record as JSON: /data/d/99860.json