A 71-year-old man with a rare rhabdoid brain tumour: using a multidisciplinary medical and rehabilitative model of care.

Atypical rhabdoid tumours (AT/RTs) of pineal origin are rare in adults with rapid progression and poor prognosis. We present the case of a 71-year-old man with confusion and memory loss who was diagnosed with a pineal AT/RT after genetic analysis. Due to his limited functional capacity and goal to return home with family, a multidisciplinary care approach was essential for coordination of medical management, radiation treatment and acute inpatient rehabilitation. After diagnosis and rehabilitation, his functional ability improved allowing him to tolerate cranial irradiation, initiate systemic chemotherapy and eventually returned home for a brief period with an improved quality of life. His progress was temporary due to rapid progression of the tumour. He required additional aggressive oncological treatment and was admitted for subsequent inpatient rehabilitation before opting for hospice care. This case underscores the importance of a multidisciplinary approach to cancer treatment in a patient with a rare and aggressive brain tumour, while respecting the individual goals of patients and their families.

Neurocognitive evaluation of long term survivors of atypical teratoid rhabdoid tumors (ATRT): The Canadian registry experience.

BACKGROUND: Because atypical teratoid rhabdoid tumor(ATRT) is a rare disease of infancy carrying a grim prognosis, focus on long-term outcome, especially neurocognitive remained very limited. With new era of multimodality therapy, an increasing proportion of patients are now long-term survivors. PROCEDURE: Retrospective review of neuropsychological (NP) status of survivors from the Canadian ATRT registry. RESULTS: Among 77 patients diagnosed between 1995-2012, 16(22%) were survivors. Formal NP assessments were available in eight patients. Partial information on academic achievement was available on three additional patients. There were four girls and seven boys diagnosed at a median age of 27.5 months. Seven patients underwent complete resection and three had metastatic disease. All but one received sequential high dose chemotherapy. Five patients received intrathecal chemotherapy. Three patients underwent radiation. Median age at time of formal NP assessment was 7.6 years (3.9-9.8). Full Scale Intellectual Quotient (FSIQ) ranged from less than 50-119 (mean 78). Simple expressive and receptive language appeared relatively preserved. Three recently diagnosed patients (median time assessment from diagnosis 2.6 years (1.6-4.7)) had average to high average FSIQ, academic and visual spatial skills, visual, and verbal memory. Five other patients diagnosed earlier and tested at a median time of 4.9 years (3.3-8.3) post-diagnosis had a FSIQ ranging from <50 to 71. Approximately 50% of their scores were in the impaired range. CONCLUSION: Overall this cohort appears significantly impaired at school age despite the absence of systematic radiotherapy. Larger series focusing on neurocognitive outcome are needed in the current context where treatment strategies include adjuvant radiation.

Tumor control and QoL outcomes of very young children with atypical teratoid/rhabdoid tumor treated with focal only chemo-radiation therapy using pencil beam scanning proton therapy.

The aim of this analysis was to assess the early clinical results of pencil beam scanning proton therapy (PT) in the treatment of young children with non-metastatic atypical teratoid/rhabdoid tumor (ATRT) of the CNS. Fifteen children (male, n = 8, 53 %) were treated with PT between May 2008 and January 2013. Mean age at diagnosis was 17.4 ± 7.0 months. The localization was infratentorial in 9 (60 %) patients. Gross total resection of the primary tumors was achieved in 7 (47 %) patients. The dose administered focally under sedation was 54 Gy (RBE). After a median follow-up of 33.4 months (range 9.7-69.2), 3 (20 %), 4 (27 %) and 2 (13 %) patients presented with local failure (LF), distant brain failure (DBF) and spinal failure (SF), respectively. Six patients died, all of tumor progression. The 2-year overall- and progression-free survival was 64.6 and 66.0 %. Tumor location (supratentorial) and the extent of surgical resection (non-gross total resection) were negative prognostic factors for both OS and PFS. PT was well tolerated. No grade >2 acute toxicity was observed. The estimated 2-year toxicity-free survival was 90 %. As assessed by the PedsQoL proxy, no decrease in QoL was observed after PT. We conclude that PBS PT is an effective treatment for young children with ATRT. After PT, with or without concomitant chemotherapy, two third of the patients survived >2 years. Acute toxicity was manageable. Longer follow-up and larger numbers of patients are needed to assess long-term outcomes and treatment-induced toxicity.

Necrotic rhabdoid meningiomas with aggressive clinical behavior.

Rhabdoid meningioma (RM) is a rare, aggressive variant of meningioma classified as a WHO Grade III malignancy. RM exhibits a striking histological resemblance to other rhabdoid tumors and strong tendency towards local recurrences, CSF dissemination, and/or remote metastasis. The majority of reported cases are of secondary rhabdoid transformation in recurrent meningiomas. We present two unusual cases of rhabdoid meningiomas diagnosed as a primary intracranial lesion in adults that were associated with extensive necrosis and an aggressive clinical course. On histological examination, the majority of the tumor mass was composed of necrotic tissue with focal clusters of neoplastic cells, often localized around blood vessels. Most tumor cells exhibited typical rhabdoid morphology with large, vesicular, often eccentrically located nuclei with distinct nucleoli and abundant cytoplasm containing eosinophilic hyaline inclusions. Classical meningothelial features with focal whorl formation were scarce and seen only in one case; in the second case the tumor was entirely rhabdoid. The differential diagnosis with atypical teratoid/rhabdoid tumors (AT/RTs) and other neoplasms, particularly metastatic carcinoma, was considered. Immunohistochemical and electron microscopic study were critical for the accurate diagnosis of the rhabdoid subtype of meningiomas. Rhabdoid cells stained diffusely positive for vimentin and S-100 protein and showed focal but strong expression of epithelial membrane antigen and cytokeratins. The rhabdoid areas of the tumors exhibited high mitotic activity with a MIB-1 labeling index of 80 - 90%. The diagnosis of rhabdoid meningioma was supported by evidence of SNF5 (INI1) protein expression. Ultrastructural examination demonstrated the presence of interdigitating cell processes joined by numerous desmosomes and paranuclear whorls of intermediate filaments typical of the rhabdoid phenotype. Our two cases of rhabdoid meningiomas were associated with lethal outcome within a few months of initial diagnosis. Extensive necrosis in rhabdoid meningioma might be considered an additional predictor of aggressive clinical behavior.