ORPHA:99861
Precursor T-cell acute lymphoblastic leukemia
Synonyms: Precursor T-cell acute lymphoblastic leukemia/lymphoma · Precursor T-cell acute lymphocytic leukemia · Precursor T-cell acute lymphocytic leukemia/lymphoma · T-ALL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Precursor T-cell acute lymphoblastic leukemia | Precursor T-cell acute lymphoblastic leukemia/lymphoma · Precursor T-cell acute lymphocytic leukemia · Precursor T-cell acute lymphocytic leukemia/lymphoma · T-ALL |
| fr | Leucémie aiguë lymphoblastique à précurseurs T | LAL-T · Leucémie aiguë lymphocytique à précurseurs T · Leucémie/lymphome aiguë lymphoblastique à précurseurs T · Leucémie/lymphome aiguë lymphocytique à précurseurs T |
| de | Akute lymphoblastische T-Vorläuferzell-Leukämie | T-ALL · T-Vorläuferzell-Leukämie/Lymphom, akut lymphoblastisch · Vorläufer T-Zell-lymphoblastische Leukämie/lymphoblastisches Lymphom |
| es | Leucemia linfoblástica aguda de precursores de células T | LLA-T · Leucemia linfocítica aguda de precursores de células T · Leucemia/linfoma linfocítico agudo de precursores de células T |
| it | Leucemia linfoblastica acuta da precursori delle cellule T | Leucemia linfocitica acuta da precursori delle cellule T · Leucemia/linfoma linfoblastica acuta da precursori delle cellule T · Leucemia/linfoma linfocitica acuta da precursori delle cellule T · T-ALL |
| nl | Precursor T-cel acute lymfoblastische leukemie | Precursor T-cel acute lymfoblastische leukemie/lymfoom · Precursor T-cel acute lymfocytische leukemie · Precursor T-cel acute lymfocytische leukemie/lymfoom · T-ALL |
| pt | Leucemia, células percussoras T linfoblásticas, aguda | |
| pl | Ostra białaczka limfoblastyczna z prekursorowych komórek T | Ostra białaczka limfocytowa z prekursorowych komórek T · Ostra białaczka/chłoniak limfoblastyczna z prekursorowych komórek T · Ostra białaczka/chłoniak limfocytowa z prekursorowych komórek T · T-ALL |
| cs | Akutní lymfoblastická leukémie z prekurzorů T-buněk | T-ALL · Akutní lymfoblastická leukémie/lymfom s prekurzory T-buněk · Akutní lymfocytická leukémie s prekurzory T-buněk |
| uk | Гостра пре-Т-клітинна лімфобластна лейкемія | Пре Т-клітинна гостра лімфобластна лейкемія/лімфома · Пре Т-клітинна гостра лімфоцитарна лейкемія · Пре Т-клітинна гостраї лімфоцитарна лейкемя/лімфома · T-ALL |
| zh | 前体T细胞急性淋巴细胞白血病 | 前体T细胞急性淋巴细胞白血病/淋巴瘤 |
| tr | Prekürsör T hücreli akut lenfoblastik lösemi | T-ALL · Öncül T hücreli akut lenfositik lösemi · Öncü T hücreli akut lenfositik lösemi/lenfoma · Öncül T hücreli akut lenfoblastik lösemi/Lenfoma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C91.0 | NTBT | attributed | validated |
| ICD-11 | 2A71 | E | specific | validated |
| MONDO | 0020512 | E | validated | |
| MeSH | D054218 | E | validated | |
| UMLS | C1961099 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:513Acute lymphoblastic leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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Genes
22 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN2A | Disease-causing somatic mutation(s) in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 18838613[PMID] |
| CNOT3 | Disease-causing somatic mutation(s) in | Not yet assessed | HGNC:7879 | ENSG00000088038 | 604910 | 19q13.42 | CCR4-NOT transcription complex subunit 3 | 23263491[PMID] |
| FLT3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 16234090[PMID] |
| ABL1 | Part of a fusion gene in | Assessed | HGNC:76 | ENSG00000097007 | 189980 | 9q34.12 | ABL proto-oncogene 1, non-receptor tyrosine kinase | 29279377[PMID] |
| BCR | Part of a fusion gene in | Assessed | HGNC:1014 | ENSG00000186716 | 151410 | 22q11.23 | BCR activator of RhoGEF and GTPase | |
| DDX3X | Part of a fusion gene in | Assessed | HGNC:2745 | ENSG00000215301 | 300160 | Xp11.4 | DEAD-box helicase 3 X-linked | 23673860[PMID] |
| MLLT10 | Part of a fusion gene in | Assessed | HGNC:16063 | ENSG00000078403 | 602409 | 10p12.31 | MLLT10 histone lysine methyltransferase DOT1L cofactor | 23673860[PMID] |
| MYB | Part of a fusion gene in | Assessed | HGNC:7545 | ENSG00000118513 | 189990 | 6q23.3 | MYB proto-oncogene, transcription factor | |
| MYC | Part of a fusion gene in | Assessed | HGNC:7553 | ENSG00000136997 | 190080 | 8q24.21 | MYC proto-oncogene, bHLH transcription factor | |
| NUP214 | Part of a fusion gene in | Assessed | HGNC:8064 | ENSG00000126883 | 114350 | 9q34.13 | nucleoporin 214 | 29279377[PMID] |
| PICALM | Part of a fusion gene in | Assessed | HGNC:15514 | ENSG00000073921 | 603025 | 11q14.2 | phosphatidylinositol binding clathrin assembly protein | |
| SALL2 | Part of a fusion gene in | Assessed | HGNC:10526 | ENSG00000165821 | 602219 | 14q11.2 | spalt like transcription factor 2 | 29279377[PMID] |
| SET | Part of a fusion gene in | Assessed | HGNC:10760 | ENSG00000119335 | 600960 | 9q34.11 | SET nuclear proto-oncogene | 29279377[PMID] |
| STIL | Part of a fusion gene in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | |
| TAL1 | Part of a fusion gene in | Assessed | HGNC:11556 | ENSG00000162367 | 187040 | 1p33 | TAL bHLH transcription factor 1, erythroid differentiation factor | |
| TCL1A | Part of a fusion gene in | Assessed | HGNC:11648 | ENSG00000100721 | 186960 | 14q32.13 | TCL1 family AKT coactivator A | |
| TLX1 | Part of a fusion gene in | Assessed | HGNC:5056 | ENSG00000107807 | 186770 | 10q24.31 | T cell leukemia homeobox 1 | 22516255[PMID]_22516263[PMID] |
| TLX3 | Part of a fusion gene in | Assessed | HGNC:13532 | ENSG00000164438 | 604640 | 5q35.1 | T cell leukemia homeobox 3 | 22516255[PMID]_22516263[PMID] |
| TRA | Part of a fusion gene in | Assessed | HGNC:12027 | 14q11.2 | T-cell receptor alpha locus | 29279377[PMID] | ||
| TRB | Part of a fusion gene in | Assessed | HGNC:12155 | 7q34 | T-cell receptor beta locus | |||
| TRD | Part of a fusion gene in | Assessed | HGNC:12252 | 14q11.2 | T-cell receptor delta locus | |||
| ZBTB16 | Part of a fusion gene in | Assessed | HGNC:12930 | ENSG00000109906 | 176797 | 11q23.2 | zinc finger and BTB domain containing 16 | 29279377[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99861
- This record as JSON: /data/d/99861.json