High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to <i>de novo</i> cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement | |
| fr | Lymphome B d'évolution agressive avec un réarrangement de MYC et/ou BCL2 et/ou BCL6 | |
| de | Hochmalignes B-Zell-Lymphom mit Rearrangement von MYC und/oder BCL2 und/oder BCL6 | |
| es | Linfoma de células B de alto grado con reordenamientos de MYC y BCL2 y/o BCL6 | |
| it | Linfoma a cellule B ad alto grado di malignità con riarrangiamenti di MYC e/o BCL2 e/o BCL6 | |
| nl | Hooggradig B-cellymfoom met herschikkingen van MYC en BCL2 en/of BCL6 | |
| pt | Linfoma de células B de evolução agressiva com rearranjo de MYC e/ou BCL2 e/ou BCL6 | |
| pl | Chłoniak z komórek B z rearanżacją MYC i(lub) BCL2 i(lub) BCL6 o wysokim stopniu złośliwości | |
| cs | High grade B-lymfom s MYC a/nebo BCL2 a/nebo BCL6 přestavbou | |
| uk | Високодиференційована В-клітинна лімфома з перебудовою MYC та/або BCL2 та/або BCL6 | |
| zh | 高级别B细胞淋巴瘤合并MYC/BCL2/BLC6重排 | |
| tr | MYC ve/veya BCL2 ve/veya BCL6 yeniden düzenlemesine sahip yüksek seviyede B hücreli lenfoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C85.7 | NTBT | attributed | validated |
| MONDO | 0018813 | E | validated | |
| UMLS | C4524190 | 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:300846Aggressive B-cell non-Hodgkin lymphoma
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCL2 | Part of a fusion gene in | Assessed | HGNC:990 | ENSG00000171791 | 151430 | 18q21.33 | BCL2 apoptosis regulator | 21119107[PMID]_27888878[PMID]_27717585[PMID] |
| BCL6 | Part of a fusion gene in | Assessed | HGNC:1001 | ENSG00000113916 | 109565 | 3q27.3 | BCL6 transcription repressor | 21119107[PMID]_27888878[PMID]_27717585[PMID] |
| MYC | Part of a fusion gene in | Assessed | HGNC:7553 | ENSG00000136997 | 190080 | 8q24.21 | MYC proto-oncogene, bHLH transcription factor | 21119107[PMID]_27888878[PMID]_27717585[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480541
- This record as JSON: /data/d/480541.json