Doctors Treat Deadly Cancerous Disorders with Gene-Guided, Targeted Therapy 

Genomic testing of biopsies from patients with deadly, treatment-resistant cancerous blood syndromes called histiocytoses allowed doctors to identify genes fueling the ailments and use targeted molecular drugs to successfully treat them. Researchers from the Cancer and Blood Diseases Institute recently reported their data in the Journal of Clinical Investigation Insight. They recommend the regular use of comprehensive genomic profiling at diagnosis to positively impact clinical care, as well as rigorous clinical trials to verify and extend the diagnostic and treatment conclusions in their study.

Histiocytoses are a group of disorders in which abnormal accumulations of white blood cells form tumors on vital organs, leading to systemic organ damage or death. About half of the patients can be treated successfully with chemotherapy, but others are treatment resistant. The study looked at biopsies from 72 child and adult patients with a variety of treatment-resistant histiocytoses, including the most common one in children, Langerhans cell histiocytosis (LCH). Twenty-six patients with treatment-resistant disease had gene mutations involving either BRAF or MAP2K1 that directly activate the MAP-kinase cancer pathway. Researchers determined such patients would benefit from the targeted molecular therapies dabrafenib or trametinib, which block the MAP-kinase pathway.

“In the last year, three patients we treated were infants with disease that was resistant to several rounds of intense chemotherapy. In the past, these children either would have suffered serious complications including death or would have had to endure more intensive treatments and the ensuing toxicities, including the risk of death,” Ashish Kumar, MD, PhD said. “All three are thriving now on one oral medication that put their disease into remission. It’s important for physicians and patients to know that LCH and other forms of histiocytosis are not that mysterious anymore. We now have new treatments that dramatically improve outcomes for these patients.”

The study is a collaborative effort of investigators in several divisions at Cincinnati Children’s, including first author and oncologist Lynn H. Lee, MD. Dr. Kumar is a member of the Division of Bone Marrow Transplant and Immune Deficiency and director of the LCH Center at Cincinnati Children’s.

PET-CT images of a 10-month-old child with Langerhans cell histiocytosis (LCH).Three months after starting oral therapy with the drug dabrafenib, the image on the right shows near complete resolution of disease activity.

PET-CT images of a 10-month-old child with Langerhans cell histiocytosis (LCH).Three months after the start of oral therapy with the drug dabrafenib, the image on the right shows near complete resolution of disease activity.

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