imaging
Imaging studies play an important role in diagnosing isolated lymphatic malformations (LMs) and understanding how they affect the body.
ultrasound
Ultrasound is often one of the first imaging tests used to evaluate an isolated LM. It can help distinguish fluid-filled cysts from solid masses and may identify features consistent with an isolated lymphatic malformation. In some cases, isolated LMs can be detected before birth during a prenatal ultrasound.
magnetic resonance imaging (MRI)
MRI provides much more detailed information about an isolated LM and is often used to confirm the diagnosis and guide treatment planning. MRI can help determine:
- The size and extent of the isolated LM
- Whether it contains macrocystic, microcystic, or mixed cysts
- How the isolated LM affects nearby structures such as muscles, nerves, blood vessels, or organs
Because MRI provides detailed images of soft tissues, it is often considered the most useful imaging study for evaluating isolated lymphatic malformations.
genetic testing
Genetic testing is not required to diagnose an isolated lymphatic malformation. However, it may be recommended in certain situations, such as when the diagnosis is unclear, symptoms are unusual or severe, or results may help guide treatment decisions.
Most isolated lymphatic malformations are associated with somatic changes (mutations) in the PIK3CA gene. These genetic changes occur after conception meaning they are not inherited and are not passed from parent to child.
Because these mutations are usually found only in the affected tissue, genetic testing is often performed on a tissue sample from the malformation rather than through a blood test. In some cases, testing may not identify a mutation even when one is present.
Researchers are also exploring the use of cell-free DNA testing from fluid samples, although this approach is not yet widely available.
Genetic testing may also be needed to determine eligibility for certain clinical trials, targeted therapies, or expanded access programs.
