B-cell chronic lymphocytic leukemia
Synonyms: B-CLL · B-cell chronic lymphoid leukemia · CLL · CLL/SLL · Chronic lymphocytic leukemia · Small lymphocytic lymphoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | B-cell chronic lymphocytic leukemia | B-CLL · B-cell chronic lymphoid leukemia · CLL · CLL/SLL · Chronic lymphocytic leukemia · Small lymphocytic lymphoma |
| fr | Leucémie lymphocytaire chronique à cellules B | B-CLL · Lymphome lymphocytaire à petits lymphocytes |
| de | B-Zell-Leukämie, chronische lymphatische | B-CLL · CLL · CLL/SLL · Chronische lymphatische Leukämie · Chronische lymphatische Leukämie vom B-Zell-Typ · Kleinzelliges lymphozytisches Lymphom |
| es | Leucemia linfocítica crónica de células B | B-CLL · CLL · CLL/SLL · LLC · LLC-B · LLC/LLCP · Leucemia linfoide crónica · Leucemia linfoide crónica de células B · Linfoma linfocítico de células pequeñas |
| it | Leucemia linfatica cronica a cellule B | B-CLL · CLL · CLL/SLL · Leucemia linfatica cronica · Leucemia linfoide cronica a cellule B · Piccolo linfoma linfocitico |
| nl | Chronische lymfatische B-celleukemie | B-CLL · CLL · CLL/SLL · Chronische lymfatische leukemie · Chronische lymfoïde B-celleukemie · Klein lymfocytair lymfoom |
| pt | Leucemia linfocítica crónica de células B | B-CLL · CLL · CLL/SLL · Imunocitoma linfoplastocítico · Leucemia linfocítica crónica · Leucemia linfóide crónica de células B · Linfoma linfocítico pequeno |
| pl | Przewlekła białaczka limfocytarna B-komórkowa | B-CLL · Chłoniak z małych limfocytów · Przewlekła białaczka limfoidalna B-komórkowa · Przewlekła białaczka limfatyczna z komórek B |
| cs | Chronická B-lymfocytární leukémie | B-CLL · Chronická B-lymfoidní leukémie · Lymfoplazmocytická leukémie · Lymfoplazmocytoidní imunocytom · Lymfom z malých lymfocytů |
| uk | В-клітинна хронічна лімфоцитарна лейкемія | В-клітинна хронічна лімфоїдна лейкемія · B-ХЛЛ · Хронічна лімфоцитарна лейкемія · ХЛЛ · CLL/SLL · Невелика лімфоцитарна лімфома |
| zh | B细胞慢性淋巴细胞白血病 | B细胞慢性淋巴细胞白血病 |
| tr | B hücreli kronik lenfositik lösemi | B-CLL · Küçük lenfositik lenfoma · B hücreli kronik lenfoid lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109543 | BTNT | validated | |
| OMIM | 151400 | E | validated | |
| OMIM | 609630 | BTNT | validated | |
| OMIM | 612557 | BTNT | validated | |
| OMIM | 612558 | BTNT | validated | |
| OMIM | 612559 | BTNT | validated | |
| ICD-10 | C91.1 | NTBT | attributed | validated |
| ICD-11 | 2A82.0 | E | specific | validated |
| MONDO | 0004948 | E | validated | |
| MeSH | D015451 | E | validated | |
| UMLS | C0023434 | E | validated | |
| GARD | 6104 | E | validated | |
| MedDRA | 10008958 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:300842Indolent B-cell non-Hodgkin lymphoma
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGHV3-21 | Biomarker tested in | Assessed | HGNC:5586 | ENSG00000211947 | 14q32.33 | immunoglobulin heavy variable 3-21 | 22464020[PMID]_23637131[PMID]_22875913[PMID]_21372840[PMID] | |
| P2RX7 | Biomarker tested in | Assessed | HGNC:8537 | ENSG00000089041 | 602566 | 12q24.31 | purinergic receptor P2X 7 | 12493261[PMID] |
| ATM | Disease-causing somatic mutation(s) in | Assessed | HGNC:795 | ENSG00000149311 | 607585 | 11q22.3 | ATM serine/threonine kinase | 10397742[PMID] |
| IKZF3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:13178 | ENSG00000161405 | 606221 | 17q12-q21.1 | IKAROS family zinc finger 3 | 26466571[PMID] |
| POT1 | Disease-causing somatic mutation(s) in | Not yet assessed | HGNC:17284 | ENSG00000128513 | 606478 | 7q31.33 | protection of telomeres 1 | 23502782[PMID] |
| RPS15 | Disease-causing somatic mutation(s) in | Assessed | HGNC:10388 | ENSG00000115268 | 180535 | 19p13.3 | ribosomal protein S15 | 26466571[PMID]_26675346[PMID] |
| TP53 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 21435757[PMID]_17920683[PMID]_16737921[PMID]_16938579[PMID]_21205967[PMID] |
| ARL11 | Major susceptibility factor in | Assessed | HGNC:24046 | ENSG00000152213 | 609351 | 13q14.2 | ARF like GTPase 11 | 15843669[PMID] |
| CCND1 | Part of a fusion gene in | Assessed | HGNC:1582 | ENSG00000110092 | 168461 | 11q13.3 | cyclin D1 | |
| IGHG1 | Part of a fusion gene in | Assessed | HGNC:5525 | ENSG00000211896 | 147100 | 14q32.33 | immunoglobulin heavy constant gamma 1 (G1m marker) |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 48 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
| Annual incidence | 1-9 / 100 000 | 7.05 / 100 000 | France | Value and class | Validated | OTHERitut National du Cancer 2013[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67038
- This record as JSON: /data/d/67038.json