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When one doctor isn’t enough: How 'collective intelligence' is tackling rare childhood cancers

Published: 31 Mar. 2025, 11:35 Updated: 31 Mar. 2025, 14:09

Doctor Phi Ji-hoon poses for a photo at Seoul National University Children's Hospital in central Seoul on March 28. [JOONGANG ILBO]

No single doctor can diagnose and treat every disease. For rare conditions like pediatric solid tumors, medical experts find themselves challenged.

The solution may lie in collective intelligence. Within a single hospital, cooperation among specialists is feasible — but pediatric oncology presents unique hurdles. As pediatric cancer specialists become increasingly scarce, collaboration becomes more difficult.

To address this, a nationwide group of experts has launched a collective initiative: the Pediatric Solid Tumor Precision Medicine Program. Leading the effort is Phi Ji-hoon, a pediatric neurosurgeon at Seoul National University Hospital.

He heads the solid tumor division under the Pediatric Cancer and Rare Disease Support Project, which began in May 2021 with a 300 billion won ($220 million) donation from the family of the late Samsung Chairman Lee Kun-hee. Solid tumors refer to cancers affecting body organs, such as brain tumors and liver cancer. Dr. Phi recently spoke with the JoongAng Ilbo, an affiliate of the Korea JoongAng Daily, about the project’s goals and early outcomes. The following are edited excerpts from the interview.

Seoul National University Hospital in central Seoul on March 28. [JOONGANG ILBO]

Q. Could you introduce the project?
The program includes physicians from the so-called “Big Four” hospitals — Seoul National University Hospital, Asan Medical Center, Samsung Medical Center and Severance Hospital — as well as Inha University Hospital, Seoul National University Bundang Hospital and Chonnam National University Hospital. About 30 physicians are involved, along with bioinformatics experts, data scientists and genome analysis companies. It’s been running for two years.

What does the program do?
We analyze anonymized patient cases to determine diagnoses and treatment strategies. So far, 430 patients have registered, including 250 in the past year. That’s estimated to cover 50 to 60 percent of all pediatric cancer patients in Korea.

How are these cases analyzed?
Pathology experts — five or six of them — begin with microscopic examination of tumor tissue. Genetic analysis has become increasingly important. In molecular tumor board meetings, 12 to 20 experts gather online to discuss cases in-depth.

Do these discussions ever change the initial diagnosis?
Yes. The final diagnosis combines pathology, genomic data and the attending physician’s opinion. When something seems unclear, we go back to the data and reevaluate. It’s normal to question each other’s findings. Changes in initial diagnoses are not uncommon.

Can you give an example?
Take brain tumors: there are about 20 major categories and over 100 subtypes. It's not unusual for a case to be reassigned to a different subtype — or less frequently, a different major category altogether. These distinctions significantly affect treatment plans.

Which patients benefit most from this program?
Patients with recurring brain or bone tumors used to have few treatment options. That’s changed. We now perform whole-genome sequencing on resected tumors, often revealing a greater number of genetic mutations than before. In many cases, there are targeted therapies available that match one or two of these mutations. This opens up new treatment avenues.

Have there been cases with notable results?
Yes. One infant, only 15 months old, was found to have a tumor in the pelvis. Initial pathology couldn’t determine what it was — it was labeled a “malignant embryonal tumor of unknown origin.” But genome sequencing revealed it was a rare subtype of leukemia, previously unseen in Korea and identified only in a handful of global cases. The treatment approach changed entirely, and the patient is now responding well.

Have there been any other important findings?
One major discovery involves the TP53 gene mutation, which causes Li-Fraumeni syndrome. It was considered a rarity in Korea, but the program uncovered a surprising number of hidden cases. Because the mutation is present in every cell, cancers can arise anywhere. One teenage boy, for instance, had a testicular tumor removed, which appeared to be the end of his treatment. But blood genome analysis showed a TP53 mutation. The testicular tumor was just the tip of the iceberg. Now he receives annual full-body scans to detect and prevent future cancers. Among the 430 registered patients, 10 percent have inherited genetic mutations.

Former Samsung chief Lee Kun-hee [JOONGANG ILBO]

How is the donation from Chairman Lee’s family being used?
We receive 3 billion won annually to support the precision medicine program. Without the donation, this would be impossible. We always inform the patient’s guardians that testing and treatment are made possible by the late chairman’s gift. They are grateful and supportive. Over ten years, we expect to build a database of 3,000 rare pediatric cancer cases. This will become an invaluable resource. Our goal is to ensure that children across the country receive consistent, evidence-based diagnoses and treatment regardless of location.

Translated from the JoongAng Ilbo using generative AI and edited by Korea JoongAng Daily staff

BY SHIN SUNG-SIK [[email protected]]