Children's Hospital of Philadelphia Researchers Recommend New Standard of Care for Families with Hereditary Neuroblastoma Linked to ALK Mutation
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PHILADELPHIA, May 6, 2025 ~ A recent study conducted by researchers at Children's Hospital of Philadelphia (CHOP) has highlighted the success of anaplastic lymphoma kinase (ALK) inhibition therapy in treating hereditary neuroblastoma, a rare subset of a common childhood cancer. The findings, published in JCO Precision Oncology, could potentially establish a new standard of care for this type of cancer.

Despite significant advancements in the treatment of high-risk neuroblastoma, the 5-year survival rate after diagnosis remains less than 50%. However, Dr. Yael P. Mossé, a senior study author and Professor of Pediatrics at CHOP's Cancer Center, and her team have previously discovered that most familial cases are linked to the ALK mutation. This mutation can be tested for and directly targeted with ALK inhibitors.

In this case report, Dr. Mossé focused on a mother and daughter who were both diagnosed with neuroblastoma and carried the ALK R1275Q mutation. The study demonstrated how they achieved long-term remission with targeted ALK inhibitors.

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Dr. Mossé stated, "Our research marks a major advancement in precision medicine for patients predisposed to hereditary neuroblastoma. With these findings, we can offer new hope for affected families and pave the way for more personalized, less invasive treatment strategies in pediatric oncology."

The study showed that small molecule ALK inhibitors, initially developed for sporadic neuroblastoma with non-inherited ALK mutations, could be even more effective when used for hereditary cases. The daughter was diagnosed with neuroblastoma at just six months old and after standard chemotherapy and surgery failed to work, she responded dramatically to the ALK inhibitor crizotinib when her cancer recurred.

The mother was asymptomatic but was diagnosed with bilateral adrenal tumors at 36 years old during a pregnancy five years later. After delivering a healthy baby, she began treatment with crizotinib and later switched to a different ALK inhibitor, alectinib, due to side effects. After surgical removal of the tumors, the mother continued alectinib treatment and has remained in remission for several years. Both the mother and daughter undergo semiannual surveillance with whole-body MRI and circulating tumor DNA (ctDNA) testing, with no evidence of disease recurrence.

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The authors of the study believe that their report could change how hereditary neuroblastoma is treated and monitored for patients with an ALK mutation. They recommend ALK inhibitors as a frontline therapy for patients with inherited mutations, potentially reducing the need for intensive chemotherapy and surgery. They also stress the importance of lifelong monitoring, challenging current guidelines that end surveillance in childhood.

Next, the researchers plan to study whether individuals with hereditary ALK have a lower risk of developing drug resistance compared to those with non-inherited mutations.

The research was supported by Alex's Lemonade Stand Foundation, Patricia Brophy Endowed Chair in Neuroblastoma Research, and National Cancer Institute (NCI) R35 CA220500.

The study titled "Anaplastic Lymphoma Kinase Inhibition Therapy for Hereditary Neuroblastoma" was published online on April 28, 2025 in JCO Precision Oncology. The DOI number is 10.1200/PO-24-00886.
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