Ricerc@Sapienza

We report the case of a 28-year-old female who complained of groin pain and restricted range of motion of the hip for the previous two months. A plain radiograph, CT scan and MRI of the pelvis showed a bone mass of uncertain origin around the lesser trochanter, simulating malignancy. An open biopsy was performed to obtain a correct diagnosis. The histological examination excluded a malignant lesion. Two months later, the mass was surgically excised and at follow-up, 9 years after surgery, the patient was completely asymptomatic, without any radiographic sign of recurrence.

Medulloblastoma (MB) is the most common malignant brain tumor in children and among the subtypes, Group 3 MB has the worst outcome. Here, we perform an in vivo, patient-specific screen leading to the identification of Otx2 and c-MYC as strong Group 3 MB inducers. We validated our findings in human cerebellar organoids where Otx2/c-MYC give rise to MB-like organoids harboring a DNA methylation signature that clusters with human Group 3 tumors.