Hairy cell leukemia variant
Synonyms: HCL-v · Leukemic reticuloendotheliosis variant · Prolymphocytic variant of HCL · Prolymphocytic variant of hairy cell leukemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult, Elderly
- Status
- active
A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hairy cell leukemia variant | HCL-v · Leukemic reticuloendotheliosis variant · Prolymphocytic variant of HCL · Prolymphocytic variant of hairy cell leukemia |
| fr | Leucémie à tricholeucocytes variante | HCL variant prolymphocytique · HCL-v · Leucémie à tricholeucocytes, variant prolymphocytique |
| de | Haarzell-Leukämie-Variante | HCL-v · Haarzellenleukämie, prolymphozytäre Variante · Prolymphozytäre Variante der HCL · Retikuloendotheliose, leukämische, Variante |
| es | Leucemia de células peludas variante | HCL-v · Variante de la reticuloendoteliosis leucémica · Variante prolinfocítica de la HCL · Variante prolinfocítica de la leucemia de células pilosas |
| it | Variante della leucemia a cellule capellute | HCL-v · Variante della reticoloendoteliosi leucemica · Variante prolinfocitica della HCL · Variante prolinfocitica della leucemia a cellule capellute |
| nl | Variant van haarcelleukemie | Prolymfocytische variant van HCL · Prolymfocytische variant van haarcelleukemie · Variant van 'hairy cell'-leukemie · Variant van leukemische reticulo-endotheliose · HCL-v |
| pt | Leucemia de células pilosas, variante | |
| pl | Wariant białaczki włochatokomórkowej | HCL-v · Leukemic reticuloendotheliosis variant · Prolimfocytarny wariant białaczki włochatokomórkowej · Prolimfocytarny wariant HCL |
| cs | Leukémie z vláskových buněk | HCL-v · Leukemická retikuloendotelióza · Prolymfocytární varianta HCL · Prolymfocytární leukémie z vláskových buněk |
| uk | Волосатоклітинний варіант лейкозу | HCL-v · Варіант лейкемічного ретикулоендотеліозу · Пролімфоцитарний варіант волосатоклітинної лейкемії · Пролімфоцитарний варіант ВКЛ |
| zh | 变异型毛细胞白血病 | 网状内皮病变异型白血病 |
| tr | Tüylü hücreli lösemi varyantı | HCL-v · HCL'nin prolenfositik varyantı · Lösemik retiküloendotelyoz varyantı · Tüylü hücreli löseminin prolenfositik varyantı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C91.4 | NTBT | attributed | validated |
| ICD-11 | 2A82.3 | NTBT | index | validated |
| MONDO | 0017600 | E | validated | |
| UMLS | C0349633 | E | validated | |
| MedDRA | 10019054 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGHV4-34 | Major susceptibility factor in | Assessed | HGNC:5650 | ENSG00000211956 | 14q32.33 | immunoglobulin heavy variable 4-34 | 21599610[PMID]_19745070[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.22 / 100 000 | United States | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/300878
- This record as JSON: /data/d/300878.json