Extraskeletal myxoid chondrosarcoma

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Extraskeletal myxoid chondrosarcoma

ORPHA:209916Disease

What it is

A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
Adult
Inheritance
Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

EWSR1Part of a fusion gene
NR4A3Part of a fusion gene
TAF15Part of a fusion gene
TCF12Part of a fusion gene
TFGPart of a fusion gene

ICD-10 codes

C49.9filed under a broader ICD-10 category — shared with 24 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MEDDRA 10073134MESH C563195MONDO 0012825OMIM 612237UMLS C1275278

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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