TY - JOUR
T1 - Temporal Evolution and Management of Fast Flow Vascular Anomalies in PTEN Hamartoma Tumor Syndrome
AU - Pimpalwar, Sheena
AU - Yoo, Raphael
AU - Chau, Alex
AU - Ashton, Daniel
AU - Margolin, Judith
AU - Iacobas, Ionela
N1 - Publisher Copyright:
© 2018 by Thieme Medical Publishers, Inc.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - PTEN Hamartoma Tumor Syndrome
KW - PTEN hamartoma of soft tissue
KW - arteriovenous malformation
KW - embolization
KW - sclerotherapy
KW - sirolimus
KW - vascular anomaly
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U2 - 10.1055/s-0038-1661377
DO - 10.1055/s-0038-1661377
M3 - Article
C2 - 30154635
AN - SCOPUS:85052242471
SN - 1061-1711
VL - 27
SP - 158
EP - 164
JO - International Journal of Angiology
JF - International Journal of Angiology
IS - 3
ER -