A novel finding of an IDH2 mutation in an interesting adult Sonic Hedgehog mutated medulloblastoma

摘要

To the Editor, We report the case of a 29-year-old female who presented with headaches and papilledema and found to have a right cerebellar T2/FLAIR hyperintense mass with restricted diffusion and minimal patchy enhancement resulting in fourth ventricular effacement and right transverse sinus stenosis (Fig. 1). She underwent an uncomplicated right retrosigmoid suboccipital craniectomy with neuro-monitoring and intra-operative MRI for gross total resection. The patient was discharged home four days after surgery, neurologically intact. Pathology was consistent with a WNT-negative, GFAP/syn-aptophysin positive tumor comprised of clusters and sheets of ovoid irregular pleiomorphic nuclei with retained INI1 and elevated Ki67 (10-15%), consistent with classic World Health Organization (WHO) Grade IV medulloblastoma (MB). Postoperative MRI of the neuroaxis showed no evidence of disease.