ORPHA:69078

Liposarcoma

Type: Disease
Group: Disorder
Inheritance: Unknown
Age of onset: All ages
Status: active

Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Liposarcoma
fr	Liposarcome
de	Liposarkom
es	Liposarcoma
it	Liposarcoma
nl	Liposarcoom
pt	Lipossarcoma
pl	Tłuszczakomięsak
cs	Liposarkom
uk	Ліпосаркома
zh	脂肪肉瘤
tr	Liposarkom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613488	BTNT		validated
ICD-10	C49.9	NTBT	index	validated
ICD-11	2B59	E	specific	validated
ICD-11	2B59.0	BTNT	specific	validated
ICD-11	2B59.1	BTNT	specific	validated
ICD-11	2B59.2	BTNT	specific	validated
ICD-11	2B59.Y	BTNT	attributed	validated
MONDO	0005060	E		validated
MeSH	D008080	E		validated
UMLS	C0023827	E		validated
GARD	6913	E		validated
MedDRA	10024627	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

Children (4):

Genes

0 direct · 8 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name
DDIT3	ORPHA:99967Myxoid/round cell liposarcoma	Part of a fusion gene in	Assessed	HGNC:2726	ENSG00000175197	126337	12q13.3	DNA damage inducible transcript 3
FUS	ORPHA:99967Myxoid/round cell liposarcoma	Part of a fusion gene in	Assessed	HGNC:4010	ENSG00000089280	137070	16p11.2	FUS RNA binding protein
CDK4	ORPHA:99970Dedifferentiated liposarcoma	Role in the phenotype of	Assessed	HGNC:1773	ENSG00000135446	123829	12q14.1	cyclin dependent kinase 4
CDK4	ORPHA:99971Well-differentiated liposarcoma	Role in the phenotype of	Assessed	HGNC:1773	ENSG00000135446	123829	12q14.1	cyclin dependent kinase 4
HMGA2	ORPHA:99970Dedifferentiated liposarcoma	Role in the phenotype of	Assessed	HGNC:5009	ENSG00000149948	600698	12q14.3	high mobility group AT-hook 2
HMGA2	ORPHA:99971Well-differentiated liposarcoma	Role in the phenotype of	Assessed	HGNC:5009	ENSG00000149948	600698	12q14.3	high mobility group AT-hook 2
MDM2	ORPHA:99970Dedifferentiated liposarcoma	Role in the phenotype of	Assessed	HGNC:6973	ENSG00000135679	164785	12q15	MDM2 proto-oncogene
MDM2	ORPHA:99971Well-differentiated liposarcoma	Role in the phenotype of	Assessed	HGNC:6973	ENSG00000135679	164785	12q15	MDM2 proto-oncogene

Prevalence and incidence

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	1 / 100 000	Europe	Value and class	Validated	22517534[PMID]_[EXPERT]
Annual incidence	1-9 / 1 000 000	0.59 / 100 000	United States	Value and class	Validated	17013893[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

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

9 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0100242	Sarcoma
HP:0001482	Subcutaneous nodule
Occasional (29-5%)
HP:0002027	Abdominal pain
HP:0000077	Abnormality of the kidney
HP:0012378	Fatigue
HP:0002017	Nausea and vomiting
HP:0003401	Paresthesia
HP:0002619	Varicose veins
HP:0001824	Weight loss

Run the differential on the 2 obligate / very frequent terms

Annotation source: 24093169[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/69078
This record as JSON: /data/d/69078.json