Primary mediastinal large B-cell lymphoma
Synonyms: Large cell lymphoma of the mediastinum · Med-DLBCL · Mediastinal diffuse large-cell lymphoma with sclerosis · Primary mediastinal clear cell lymphoma of B-cell type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary mediastinal large B-cell lymphoma | Large cell lymphoma of the mediastinum · Med-DLBCL · Mediastinal diffuse large-cell lymphoma with sclerosis · Primary mediastinal clear cell lymphoma of B-cell type |
| fr | Lymphome B médiastinal primitif à grandes cellules | Lymphome B à grandes cellules claires du médiastin · Lymphome diffus à grandes cellules du médiastin · Med-DLBCL |
| de | B-Zell-Lymphom, großzelliges, primär mediastinales | Großzelliges Lymphom des Mediastinums · PMBCL |
| es | Linfoma mediastínico primario de células B grandes | LDCBG-Med · Linfoma de células grandes del mediastino · Linfoma difuso de células grandes del mediastino · Linfoma primario mediastinal de células claras tipo células B · Med-DLBCL |
| it | Linfoma primitivo del mediastino a grandi cellule B | Linfoma B primitivo del mediastino a cellule chiare · Linfoma del mediastino a grandi cellule · Linfoma diffuso del mediastino a grandi cellule con sclerosi · Med-DLBCL |
| nl | Primair mediastinaal grootcellig B-cellymfoom | Grootcellig lymfoom van het mediastinum · Med-DLBCL · Mediastinaal diffuus grootcellig lymfoom met sclerose · Primair mediastinaal heldercellig lymfoom van het B-celtype |
| pt | Linfoma de grandes células B do mediastino primário | |
| pl | Pierwotny chłoniak wielkokomórkowy śródpiersia z komórek B | Chłoniak wielkokomórkowy śródpiersia · Med-DLBCL · Pierwotny chłoniak jasnokomórkowy śródpiersia z komórek B · Rozlany chłoniak wielkokomórkowy śródpiersia ze sklerozą |
| cs | Primární velkobuněčný B-lymfom mediastina | Med-DLBCL · Velkobuněčný lymfom mediastina · Mediastinální difuzní velkobuněčný lymfom se sklerózou · Primární mediastinální jasnobuněčný lymfom z B buněk |
| uk | Первинна медіастинальна велика В-клітинна лімфома | Великоклітинна лімфома середостіння · Med-DLBCL · Медіастинальна дифузна великоклітинна лімфома зі склерозом · Первинна медіастинальна світлоклітинна лімфома В-клітинного типу |
| zh | 原发性纵隔大B细胞淋巴瘤 | B细胞型原发性纵隔透明细胞淋巴瘤 |
| tr | Primer mediastinal büyük B hücreli lenfoma | Med-DLBCL · Mediyastende büyük hücreli lenfoma · Sklerozlu mediastinal yaygın büyük hücreli lenfoma · B hücre tipi primer mediastinal berrak hücreli lenfoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C85.2 | NTBT | attributed | validated |
| ICD-11 | 2A81.0 | E | specific | validated |
| MONDO | 0020323 | E | validated | |
| UMLS | C1292754 | E | validated | |
| MedDRA | 10036710 | 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:544Diffuse large B-cell lymphoma
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| XPO1 | Candidate gene tested in | Assessed | HGNC:12825 | ENSG00000082898 | 602559 | 2p15 | exportin 1 | 27312795[PMID] |
| BCL6 | Disease-causing somatic mutation(s) in | Assessed | HGNC:1001 | ENSG00000113916 | 109565 | 3q27.3 | BCL6 transcription repressor | 17116487[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[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/98838
- This record as JSON: /data/d/98838.json