ORPHA:2126

Solitary fibrous tumor

Synonyms: SFT

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: All ages
Status: active

A rare soft tissue tumor characterized by a well-circumscribed mass potentially occurring at any anatomical site, histopathologically showing spindled to ovoid cells arranged around a branching and hyalinized vasculature and variable stromal collagen deposition. Immunohistochemistry reveals CD34 and/or STAT6 expression. <i>NAB2-STAT6</i> gene fusions are pathognomonic for this tumor, which may be malignant or benign. Clinically, most patients present with a slow-growing, painless mass. Large tumors may cause paraneoplastic syndromes such as Doege-Potter syndrome, with the induction of severe hypoglycemia or acromegaloid features.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Solitary fibrous tumor	SFT
fr	Tumeur fibreuse solitaire
de	Solitärer fibröser Tumor	= en
es	Tumor fibroso único	TFS
it	Tumore fibroso solitario	= en
nl	Solitaire fibreuze tumor	= en
pt	Tumor fibroso solitário	= en
pl	Guz włóknisty	Pojedynczy guz włóknisty
cs	Solitární fibrózní tumor	= en
uk	Солітарна фіброзна пухлина	= en
zh	孤立性纤维瘤/血管外皮细胞瘤	SFT/HPC
tr	Soliter fibröz tümör / hemanjiyoperisitom	SFT/HPC

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	234820	BTNT		validated
ICD-10	D21.9	NTBT	attributed	validated
MONDO	0016238	E		validated
MeSH	D006393	E		validated
UMLS	C0018922	E		validated
MedDRA	10018825	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):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (1):

ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NAB2	Part of a fusion gene in	Assessed	HGNC:7627	ENSG00000166886	602381	12q13.3	NGFI-A binding protein 2	23313952[PMID]_23313954[PMID]
STAT6	Part of a fusion gene in	Assessed	HGNC:11368	ENSG00000166888	601512	12q13.3	signal transducer and activator of transcription 6	23313952[PMID]_23313954[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	24625420[PMID]

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

29 annotations · validated 2019-06-20

HPO	Term (as annotated by Orphanet)	Diagnostic
Occasional (29-5%)
HP:0012378	Fatigue
HP:0010787	Genital neoplasm
HP:0100527	Neoplasia of the pleura
HP:0002664	Neoplasm
HP:0031459	Soft tissue neoplasm
HP:0001824	Weight loss
Very rare (<4-1%)
HP:0045026	Abnormal mediastinum morphology
HP:0008775	Abnormal prostate morphology
HP:0000290	Abnormality of the forehead
HP:0002585	Abnormality of the peritoneum
HP:0002019	Constipation
HP:0000651	Diplopia
HP:0001945	Fever
HP:0001943	Hypoglycemia
HP:0040216	Hypoinsulinemia
HP:0004912	Hypophosphatemic rickets
HP:0007185	Loss of consciousness
HP:0003419	Low back pain
HP:0002896	Neoplasm of the liver
HP:0100526	Neoplasm of the lung
HP:0004375	Neoplasm of the nervous system
HP:0030166	Night sweats
HP:0031501	Pelvic mass
HP:0012125	Prostate cancer
HP:0001988	Recurrent hypoglycemia
HP:0030795	Reduced C-peptide level
HP:0000016	Urinary retention
HP:0010784	Uterine neoplasm
HP:0100650	Vaginal neoplasm

Annotation source: 30923297[PMID]_30957324[PMID]_29257041[PMID]_26746203[PMID]_31020464[PMID]_27562490[PMID]_28687087[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2126
This record as JSON: /data/d/2126.json