MalignantSoft tissue
Extrarenal Rhabdoid Tumour
Synonyms: Malignant rhabdoid tumour of soft tissue
INI1 loss is diagnostic
Quick Facts
Behaviour
Malignant
Category
Soft tissue
Grade
High
Synonyms
Malignant rhabdoid tumour of soft tissue
Category
Soft tissue
Behaviour
Malignant
Grade
High
Gender
M = F
Tissue of Origin
Unknown
Epidemiology
- Highly aggressive tumour predominantly affecting infants and young children
- Rare
- SMARCB1 (INI1) inactivation
Clinical Features
- Rapidly growing aggressive mass
- Often presents with metastatic disease
- Poor prognosis from onset
Location
- Paravertebral
- Retroperitoneum
- Extremities
- Head and neck
Imaging
- MRI: large heterogeneous aggressive mass
- Necrosis and haemorrhage common
Pathology
- Large cells with eccentric nucleus and prominent nucleolus
- Rhabdoid cytoplasmic inclusions
- Loss of INI1 (SMARCB1) by IHC
Genetics
- SMARCB1 (INI1) biallelic inactivation
- Can be germline - screen for rhabdoid tumour predisposition syndrome
Treatment
- Intensive chemotherapy
- Surgery and radiotherapy
- Overall poor response
Prognosis
- Very poor - one of worst paediatric cancers
- Most patients die within 1 year
Key Points
- INI1 loss is diagnostic
- Infants and young children
- Screen for germline SMARCB1 mutation
- Extremely poor prognosis
Workup - Blood Tests
FBC, LFTs, LDH
Workup - Local Imaging
- MRI primary site
- CT chest/abdomen/pelvis
- MRI brain
Workup - Biopsy
- Core needle biopsy
- INI1 IHC mandatory
Workup - Staging
- Full staging CT/MRI
- MRI brain
Medical disclaimer
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