Abstract
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is characterized
by formation of recurrent benign tumors described as PTEN hamartoma of soft tissue
that may contain fast flow vascular anomalies (FFVA). The purpose of this study is
to review the temporal evolution and management of FFVA in PHTS. A retrospective review
of 22 patients (9 males), age 1 to 18 (median 9) years diagnosed with PHTS at a tertiary
care pediatric hospital between October 2002 and August 2017 revealed 4 patients with
FFVA. Imaging, management, and treatment complications were reviewed. During median
follow-up of 8 (range: 4–13) years, ultrasound and magnetic resonance imaging performed
for recurrent pain, showed progressive increase in the size of hamartomas and development
of new FFVA in three-fourth patients. Medical management included pain medications,
oral sirolimus, and physical and psychiatric therapy. Surgical excision of hamartoma
(n = 1) resulted in recurrence within 3 months. Between 4 and 24 (average 1.5/year)
embolizations were performed per patient. Pain related to FFVA responded well to embolization.
Pain secondary to PTEN hamartoma responded poorly to percutaneous sclerosant injection,
but demonstrated improvement with sirolimus. There was no correlation between serum
sirolimus levels and frequency/timing of recurrence of FFVA/hamartoma. Complications
included sclerosant migration into digital arteries (n = 1), subclavian vein stenosis due to glue migration (n = 1), oral mucositis (n = 4), and elevated triglycerides (n = 4). Patients with PHTS present with recurrent pain requiring life-long management
with a multi-disciplinary team. Pain due to FFVA responds to embolization, and pain
due to hamartoma responds to sirolimus. This improves quality of life, but does not
prevent disease progression.
Keywords
PTEN Hamartoma Tumor Syndrome - PTEN hamartoma of soft tissue - vascular anomaly -
arteriovenous malformation - sirolimus - embolization - sclerotherapy
