Background: Mutations in the PTEN gene cause two disorders that predispose to cancer, Bannayan-Riley-Ruvalcaba and Cowden syndromes. Some patients with PTEN mutations have only macrocephaly and autism, but they may still be at risk for neoplasms. Vascular anomalies occur in patients with PTEN mutations, but they have not been systematically studied nor precisely defined.
Method: We analysed the clinical and radiological features of the vascular anomalies in 26 patients with PTEN mutations who were either seen or had their medical records reviewed at Children’s Hospital Boston.
Results: All 23 patients who had their head circumference measured were macrocephalic, and all 13 males who were fully examined had penile freckling. Vascular anomalies were found in 14/26 (54%) of patients: 8/14 (57%) had multiple lesions and 11/13 (85%) who had cross-sectional imaging had intra-muscular vascular lesions. Radiographic studies documented that 12/14 (86%) were high-flow vascular anomalies, and angiography typically showed focal segmental dilatation of draining veins. Excessive ectopic fat in the vascular anomalies was present in 11/12 (92%) of patients on computed tomography (CT) or magnetic resonance imaging (MRI). Intracranial developmental venous anomalies (DVAs) were found in 8/9 (89%) of patients who had brain MRI with contrast.
Conclusions: Vascular anomalies in patients with a PTEN mutation are typically multifocal intramuscular combinations of high-flow channels and ectopic fat. Cerebral DVAs are very common. PTEN mutation analysis should be considered for all macrocephalic patients with high-flow vascular anomalies or multiple intracranial DVAs.
- Arteriovenous malformations
- Bannayan-Riley-Ruvalcaba syndrome
- Cowden syndrome
- PTEN hamartoma syndrome
- Vascular malformations
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