Clear cell sarcoma of kidney

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Clear cell sarcoma of kidney

ORPHA:457246Disease

Also called CCSK

What it is

Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.

Key facts

Age of onset
Adolescent, Adult, Childhood, Infancy
Inheritance
Not applicable
Classified as
Disease

Genes

BCORDisease-causing somatic mutation(s)
IRX2Part of a fusion gene
NUTM2BPart of a fusion gene
NUTM2EPart of a fusion gene
TERTPart of a fusion gene
YWHAEPart of a fusion gene

ICD-10 codes

C64filed under a broader ICD-10 category — shared with 18 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 10009253MONDO 0005006UMLS C0334488

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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