Recurrent medulloblastoma is a deleterious disease with a 5-year survival of less than 5% and no recognized standard treatment. In recent years, we have learned about the molecular characterization of the different types of medulloblastoma with four subgroups also appearing different subgroups, each with its oncogenic pathway activation. SHH activation is the hallmark of medulloblastoma group 2 and several molecules have been developed to block this signaling mechanism, including SMO inhibitors, that are approved for the treatment of basal cell carcinoma. The information that is known about SMO inhibitors in medulloblastoma comes from relapsed medulloblastoma trials without prior molecular selection of patients, so their actual efficacy might still be unknown.
We present a 19-year-old patient with a leptomeningeal relapse of group 2 delta medulloblastoma. Based in some sporadic response of selected patients in phase II trials, sonidegib 800 mg daily was initiated as compassionate use in a third line of treatment.
After 2 months of treatment, MRI evaluation shows an almost complete response in intracranial disease and stabilization of spinal disease. In addition, the treatment was well tolerated.
Further molecular characterization of medulloblastoma could lead to better results in recurrent medulloblastoma, a disease for which there is currently no proven effective treatment.
The authors.
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All authors have declared no conflicts of interest.