Rhabdoid sarcoma of the brain in adults: case report and review of the literature

Introduction. Rhabdoid tumors (RTs) of the Central Nervous System are uncommon and aggressive neoplasms that usually affect pediatric patients. RTs are very rare in adults and approximately 30 cases have been so far reported in the literature. Adult RTs show distinct features in terms of incidence, patient’s age, tumor site, survival and presence of genetic mutations. Adult RTs usually affect patients aged between 18-45, have mainly a supratentorial location and are associated with a longer survival. RT is characterized by an aggressive clinical behavior in most children, who usually die within 7 months from initial diagnosis despite aggressive therapy, while the behavior of the tumor in adults seems to be less aggressive, with a mean survival time of 38 months. Pure RTs must be distinguished from composite RTs, which are other well-established neoplasms with rhabdoid features, such as rhabdoid meningiomas, rhabdoid glioblastomas, carcinomas and sarcomas with rhabdoid features. Objects. Aim of the study was the evaluation of the correct management of patients with Rhabdoid sarcoma. We report a recent case of rhabdoid sarcoma treated at our Institution. The neuroradiological aspects and the surgical treatments are discussed, togheter with a review of the literature. Case Description. A 45-year-old male patient, with a 2- months history of headache, was admitted to the Neurosurgical Department at the University Hospital of Messina. The neurological examination was negative. He underwent brain MRI showing an intra-axial lesion in the right superior frontal gyrus, heterogeneously enhancing after gadolinium administration associated to diffuse white matter edema. MR spectroscopy demonstrated the presence of an inversion of the NAA/ Cho ratio and the presence of peak of lipids, suggestingthe diagnosis of a high grade glioma. Perfusion Computed Tomography (PCT) was negative. The patient was operated through a frontal craniotomy and a grosstotal removal of the lesion was achieved. Histopathologically, typical rhabdoid cells with some necrotic areas, together with sarcomatous cells, were observed, suggesting the final diagnosis of sarcoma of the brain with rhabdoid features (or rhabdoid sarcoma). The patient underwent adiuvant radiosurgery through the CyberKnife system, with the standard protocols, in order to improve the local control of the lesion. No adiuvant chemotherapy was administrated because the patient refused it. The patient was asymptomatic for 1 year, when he started to complain of headache and mild weakness of the left upper limb. Brain MRI, performed on March 2013, 1 year after surgery, documented the presence of regrowth of the lesion, with associated perilesional edema. The patient underwent surgery. Treatment-induced necrosis was histologically documented. Results and Conclusions. The treatment of RTs of the Central Nervous System is complex and involves many medical specialities. The gross total removal of the lesion is the first step to be achieved. It allows to make the diagnosis and address the correct treatment to control tumor progression. Both radiotherapy and chemiotherapy have role in increasing the survival in patients with such rare tumors. The prognosis is still poor but more potential therapeutic targets have become apparent as we know more about the biological mechanisms at the basis of tumor formation and proliferation. It is unlikely that any of these agents alone will result in increased survival, and they must be combined with current intensive therapy if they are expected to have any lasting effects.