These New Developments in Otolaryngology Are Revolutionizing the Management of Pediatric Patients

Ed. Note: This article is the first in a seven-part series on emerging technology and treatments that are changing the landscape for otolaryngologists in different specialty areas.

Within 10 years, surgical treatment of children with congenital lymphatic malformations of the head and neck may be rare. Pediatric otolaryngologists may routinely refer families to food pantries and early intervention programs, and physicians subcertified in complex pediatric otolaryngology will perform surgeries on medically complex children with common otolaryngologic disorders—perhaps via transoral robotic surgery.

The field of pediatric otolaryngology has come a long way since the late 1800s, when Burton Alexander Randall of the Children’s Hospital of Philadelphia and Samuel Langmaid of Boston Children’s Hospital publicly recognized the need for pediatric-focused otolaryngologists. The American Society of Pediatric Otolaryngology was founded in 1985, and in the generation since, pediatric otolaryngologists have made significant strides in the diagnosis and treatment of childhood hearing loss, sleep-related breathing disorders, and rhinosinusitis, among other things.

Here’s a look at some of the latest developments in pediatric otolaryngology.

Genetic Testing Leads to Targeted Therapy

Genetic testing revolutionized the management of childhood deafness, emerging as “the most important first diagnostic test to order in the new evaluation of sensorineural hearing loss,” according to a 2017 ENTtoday article (“Genetic Testing for Hearing Loss,” August 2017). “Now, genetic testing and diagnosis have fundamentally changed how we manage patients with vascular anomalies and craniofacial syndromes,” said Kathleen Sie, MD, division chief of otolaryngology–head and neck surgery at Seattle Children’s Hospital.

In 2015, researchers identified somatic PIK3CA mutations as the most common cause of isolated lymphatic malformations, which frequently affect the head and neck. This discovery opened the door to possible targeted medical therapy rather than surgery (JCI Insight. 2019;4:e129884). Since then, oral sirolimus, a drug known to inhibit the PI3K/AKT/mTOR pathway, has been used to successfully shrink lymphatic malformations in children, including lesions that were refractory to standard care (Pediatrics. 2016;137:e20153257; J Pediatr Surg. 2020;55:2454-2458; Front Oncol. 2021;11:616702). Researchers are also using alpelisib, a PI3K-specific inhibitor that’s FDA approved to treat PIK3CA-mutated breast cancers, to treat children with infantile hemangiomas and other lymphatic malformations with a PIK3CA mutation.

“We’re using medicines to basically suppress the activity of an activated gene,” said Jonathan Perkins, DO, professor of pediatric otolaryngology–head and neck surgery at the University of Washington in Seattle and chief of the Vascular Anomalies Program at Seattle Children’s Hospital. “That’s the definition of targeted therapy or precision medicine.”

Previously, discovery of a large lymphatic malformation in utero almost always meant that the baby would likely require surgery after birth. Today, Dr. Perkins said, he prescribes medication, and most lesions shrink significantly.

“There have been several cases where, in the past, we’d have to do a tracheotomy; now, we’re not needing a tracheotomy,” he said.

Although alpelisib is not yet FDA approved to treat lymphatic malformations in children, the drug trial studying the effectiveness of alpelisib in treating nonmalignant PIK3CA-induced conditions is underway.

“I think molecular genetic diagnosis will be central to assessing and categorizing these conditions and determining treatment,” Dr. Perkins said. “Up until this point, it’s been ‘you have a lymphatic malformation. You need this treatment or that treatment,’ and those treatments have usually been invasive. We’re evolving toward the ability to have targeted treatment options, and I think that’s really going to change treatment over the next five or 10 years. I’m putting myself out of business.”