Vascular Anomalies Research

The understanding and management of vascular anomalies are advancing rapidly. As we identify and analyze the genetic underpinnings of these disorders and the proteins involved, we are able to address them on more fundamental and personal levels. Our deepening insights increase the power of targeted medications to slow and shrink vascular tumors and vascular malformations; and they also strengthen the application of combined therapies that may include interventional radiology (embolization, sclerosing therapy, focused ultrasound and cryotherapy), surgery and medical treatments.

Identifying genetic associations for different vascular anomalies helps us find the molecular pathways involved in the cause and progression of the disease. Some of those pathways are known to be involved in oncologic disorders and therefore have already been addressed by chemotherapy drugs. We can now repurpose some of these medications for the treatment of vascular anomalies. One of these drugs, known as sirolimus or rapamycin, has been effectively repurposed for the treatment of vascular anomalies for the last several years, as described in our 2019 PLoS One paper and our 2015 Dermatologic Therapy publication.

“A key part of our management of vascular anomalies today is the combined use of targeted medications and surgical interventions,” says Joyce Teng, MD, PhD, director of the Vascular Anomalies Clinic. “Targeted treatments can control abnormal cell proliferation and the formation of dysfunctional vascular structure, both before and after a procedure. Such a multidisciplinary approach will improve the overall outcomes of our management and reduce the disease recurrence,” she says. We have successfully used this integrated approach for many patients with complex vascular anomalies and have published the results in a recent JAMA article.

Specialists in this clinic use cutting-edge technology to improve the care of patients with vascular anomaly. Our interventional radiologists are examining the use of high-intensity focused ultrasound (HIFU) as well as cryotherapy for treatment of challenging vascular tumors. In addition, our head and neck surgeons have used many novel techniques during complicated surgeries to reduce risks during surgery and recurrence after.

“Our cutting edge keeps moving forward,” says interventional and diagnostic radiologist David Hovsepian, MD. “That’s a great advantage of working in a multidisciplinary research center like ours; we are constantly developing new tools and methods for diagnosis and treatment. We can now do things we weren’t capable of just a few years ago. And in five years, I suspect we’ll be doing things we haven’t even thought of today.”

For half a decade, the Vascular Anomalies Clinic has been compiling a powerful database of patients and treatments that helps us to determine the effectiveness of various approaches for patients with these difficult-to-manage disorders. We continually investigate the causes, clinical manifestations and natural history of these disorders as well as the outcomes of different treatments and management options. Our multidisciplinary team makes full use of this expertise to provide the best personalized care to each of our patients.

Publications

Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures. Dermatologic therapy. 2019: e12919. Lekwuttikarn R, Chang J, Teng JM.

Alterations of the MEK/ERK, BMP, and Wnt/beta-catenin pathways detected in the blood of individuals with lymphatic malformations. PLOS ONE. 2019; 14 (4). Kim T, Tafoya E, Chelliah MP, Lekwuttikarn R, Li J, Sarin KY, Teng J.

Phacomatosis pigmentovascularis and extracutaneous manifestations: Case series, literature review and considerations for management. Am J Med Genet A. 2019 Jun;179(6):966-977. Kumar A, Zastrow DB, Beleford D, Ruzhnikov MZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA.

Genetics of vascular malformation and therapeutic implications. Current opinion in pediatrics. 2019. Zúñiga-Castillo M, Teng CL, Teng JM.

Management of complex arteriovenous malformations using a novel combination therapeutic algorithm. JAMA dermatology. 2018 Nov 1;154(11):1316-1319. Chelliah MP, Do HM, Zinn Z, Patel V, Jeng M, Khosla RK, Truong M, Marqueling A, Teng JM.

RASA1-related disorders. (Login required) P. WILEY. 2018: 1531–32. Stevenson DA, Wooderchak-Donahue W, Johnson P, McDonald J, Teng JM, Lungren M, Bayrak-Toydemir.

An open-label study to evaluate sildenafil for the treatment of lymphatic malformations. Journal of the American Academy of Dermatology. 2014; 70 (6): 1050-1057. Danial C, Tichy AL, Tariq U, Swetman GL, Khuu P, Leung TH, Benjamin L, Teng J, Vasanawala SS, Lane AT.

Successful medical management of life-threatening hepatic hemangioma in neonates. Pediatrics. 2019 Sep 11. Lekwuttikarn R, Josephs S, Teng JM.

Genotype-guided medical treatment of an arteriovenous malformation in a child. JAMA Dermatol. 2019 Feb 1;155(2):256-257. Lekwuttikarn R, Lim YH, Admani S, Choate KA, Teng JMC.

Long-Term Follow-Up of Lymphatic Malformations in Children Treated with Sildenafil. Pediatr Dermatol. 2017 Sep;34(5):559-565. Tu JH, Tafoya E, Jeng M, Teng JM.

Sclerotherapy for lymphatic malformations of the head and neck in the pediatric population. J Neurointerv Surg. 2017 Oct;9(10):1023-1026. Tu JH, Do HM, Patel V, Yeom KW, Teng JMC.

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. Am J Med Genet A. 2016 Jun;170(6):1450-4. Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA.