Inflammatory myofibroblastic tumor
- Type
- Disease
- Group
- Disorder
- Status
- active
Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inflammatory myofibroblastic tumor | |
| fr | Tumeur myofibroblastique inflammatoire | |
| de | Tumor, inflammatorischer myofibroblastischer | |
| es | Tumor miofibroblástico inflamatorio | |
| it | Tumore miofibroblastico infiammatorio | |
| nl | Inflammatoire myofibroblastische tumor | |
| pt | Tumor miofibroblástico inflamatório | |
| pl | Zapalny guz miofibroblastyczny | |
| cs | Inflamatorní myofibroblastický tumor | |
| uk | Запальна міофібробластична пухлина | |
| zh | 炎性肌纤维母细胞瘤 | |
| tr | İnflamatuar miyofibroblastik tümör |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D48.7 | NTBT | attributed | validated |
| ICD-11 | 2E92.1 | BTNT | specific | validated |
| ICD-11 | 2F30.Y | BTNT | specific | validated |
| MONDO | 0015798 | E | validated | |
| UMLS | C0334121 | E | validated | |
| GARD | 7146 | E | validated | |
| MedDRA | 10067917 | 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:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALK | Part of a fusion gene in | Assessed | HGNC:427 | ENSG00000171094 | 105590 | 2p23.2-p23.1 | ALK receptor tyrosine kinase | 17063337[PMID] |
| CARS1 | Part of a fusion gene in | Assessed | HGNC:1493 | ENSG00000110619 | 123859 | 11p15.4 | cysteinyl-tRNA synthetase 1 | 13679433[PMID]_12112524[PMID] |
| CLTC | Part of a fusion gene in | Assessed | HGNC:2092 | ENSG00000141367 | 118955 | 17q23.1 | clathrin heavy chain | 17656252[PMID] |
| RANBP2 | Part of a fusion gene in | Assessed | HGNC:9848 | ENSG00000153201 | 601181 | 2q13 | RAN binding protein 2 | 12661011[PMID] |
| TPM3 | Part of a fusion gene in | Assessed | HGNC:12012 | ENSG00000143549 | 191030 | 1q21.3 | tropomyosin 3 | 17063337[PMID] |
| TPM4 | Part of a fusion gene in | Assessed | HGNC:12013 | ENSG00000167460 | 600317 | 19p13.12-p13.11 | tropomyosin 4 | 10934142[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/178342
- This record as JSON: /data/d/178342.json