Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Synonyms: 8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement | 8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma |
| fr | Tumeur myéloïde/lymphoïde associée à un réarrangement de FGFR1 | Syndrome myéloprolifératif 8p11 |
| de | Myeloische/lymphatische Neoplasie mit assoziiertem FGFR1-Gen-Rearrangement | 8p11-myeloproliferatives Syndrom · Stammzell-Lymphom/Leukämie |
| es | Neoplasia mieloide/linfoide asociada a un reordenamiento del gen FGFR1 | Leucemia/linfoma de células madre · Síndrome 8p11 mieloproliferativo · Síndrome mieloproliferativo 8p11 |
| it | Neoplasia mieloide/linfoide associata a riarrangiamento di FGR1 | Leucemia/linfoma delle cellule staminali · Sindrome mieloproliferativa 8p11 |
| nl | Myeloïd/lymfoïd neoplasma geassocieerd met FGFR1-herschikking | 8p11 myeloproliferatief syndroom · Stamcelleukemie/lymfoom |
| pt | Neoplasia mielóides/linfóide associada a rearranjo do FGFR1 | |
| pl | Nowotwory szpiku związane z rearanżacją FGFR1 | Białaczka/chłoniak komórek macierzystych · Zespół mieloproliferacyjny 8p11 |
| cs | Myeloidní neoplázie spojená s přestavbou FGFR1 | Myeloproliferativní syndrom 8p11 · SCLL · Leukémie/lymfom kmenových buněk |
| uk | Мієлоїдні/лімфоїдні новоутворення, повязані з перебудовою FGFR1 | 8p11 мієлопроліферативний синдром · Стовбурова лейкемія/лімфома |
| zh | FGFR1基因重排相关髓系/淋巴系肿瘤 | 8p11骨髓增生综合征 |
| tr | FGFR1 yeniden düzenlenmesiyle ilişkili miyeloid/lenfoid neoplazm | Kök hücreli lösemi/lenfoma · 8p11 miyeloproliferatif sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613523 | E | validated | |
| ICD-10 | C92.7 | NTBT | attributed | validated |
| ICD-11 | 2A52 | E | specific | validated |
| MONDO | 0013296 | E | validated | |
| MONDO | 13296 | E | validated | |
| UMLS | C3150773 | 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:168943Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
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 |
|---|---|---|---|---|---|---|---|---|
| FGFR1 | Part of a fusion gene in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 23489324[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/168953
- This record as JSON: /data/d/168953.json