Imaging
MRI and/or CT imaging of affected areas is recommended as the first screening imaging for suspected CLAs.
Skeletal survey or radiographs recommended as second imaging technique and for long-term monitoring.
Dynamic contrast-enhanced magnetic resonance lymphangiogram (DCMRL) may be needed to image the central lymphatics.
Providers may recommend one or more of the following tests to aid in a diagnosis and monitoring:
- Biopsy
- Bone scan
- Bronchoscopy
- CT scan
- MRI
- Lymphangiogram
- Skeletal survey
- Ultrasound
- X-ray
Laboratory evaluation often includes
- Complete blood count (CBC), complete metabolic panel (CMP), and coagulation studies
- Immune testing may be required
Genetic testing
- Genetic testing of involved tissue is needed to help identify potential causative somatic gene variants and guide targeted therapy
- Important to keep in mind that
- Affected tissue must be tested due to the nature of somatic variants (not present in all cells)
- While affected tissue must be the sample used for genetic testing, the frequency of mutations in affected tissue is low which can make it difficult to detect mutations