Concomitant KIAA1549-BRAF fusion and IDH mutation in Pediatric spinal cord astrocytoma: a case report and literature review.

Primary tumors of the spinal cord are rare, accounting for 3-6% of tumors in the central nervous system, particularly in children. KIAA1549-BRAF fusion is more common in pilocytic astrocytoma (PA) and IDH1 R132H mutation is rare in infratentorial tumors. Here, we report a 10-year-old male patient who presented with weakness in lower limbs that progressed to difficulty walking. Magnetic resonance imaging (MRI) revealed an intramedullary solid-cystic lesion from the medulla oblongata to the thoracic spin 4 level, with the expansion of the spinal cord. The lesion exhibited patchy enhancement at C4-T1, indicating a tentative diagnosis of astrocytoma. The patient underwent resection of the lesion in the spinal canal from the cervical 6 level to the thoracic 2 level. Histopathology confirmed diagnosis of astrocytoma, WHO grade 2. Genetic analysis showed both IDH1 R132H mutation and KIAA1549-BRAF fusion. Therefore, our integrated diagnosis was astrocytoma, IDH mutation, WHO grade 2. Its molecular analyses include IDH1 R132H mutation and KIAA1549-BRAF fusion. After the operation, the patient did not receive chemo- or radiotherapy, and underwent an aggressive rehabilitation regiment. Follow up 10 months later, symptoms improved. To our best knowledge, this is the first case of concomitant IDH mutation and BRAF fusion in pediatric spinal cord astrocytoma.

Feasibility of performance-based functional assessment in brain tumour survivors.

INTRODUCTION: Rehabilitation and exercise interventions are beneficial for the physical and psychological health of cancer survivors. Current clinic-based performance status measures do not accurately capture the survivor's functioning, or rehabilitation and exercise needs. Our primary objective was to explore the feasibility of performing a performance-based functional assessment with brain tumour survivors as a means to inform needs for rehabilitation and exercise. METHODS: A feasibility study was conducted with survivors of brain and other neurological cancers attending new patient or follow-up clinics. Survivors were assessed using the Short Physical Performance Battery (SPPB), grip strength and Rosow-Breslau Physical Activity Self-Assessment (RSB). RESULTS: We approached 40 survivors with brain tumours, and 30 agreed to participate in the study. The SPPB was inversely correlated with Eastern Cooperative Oncology Group (ECOG) scores (r = -.73; p < .01), but scores on the SPPB for individuals classified as ECOG 1 ranged from 5 to 12 out of 12, indicating a large variability in functional scores within this ECOG grade. CONCLUSION: Implementation of objective functional testing is feasible in the neuro-oncology outpatient clinic. The SPPB appears to best inform the functional status of survivors with brain tumours, facilitating more individualised exercise and rehabilitation referrals.

Rehabilitación de las funciones ejecutivas en un caso de oligoastrocitoma frontal derecho / Rehabilitation of executive functions in a case of right frontal oligoastrocytoma

El desarrollo tecnológico y científico en salud de los últimos años ha permitido mejoras en el diagnóstico y mayor eficacia en el tratamiento de pacientes con tumores cerebrales, generado un aumento no solo en la supervivencia, sino también una mayor demanda de los servicios de neuropsicología y rehabilitación, debido a las alteraciones cognitivas asociadas y dificultades en cuanto a la funcionalidad e independencia, disminuyendo significativamente la calidad de vida de estos pacientes. La presente investigación documenta el caso de un paciente masculino de 43 años, remitido al servicio de neuropsicología tras la resección de oligoastrocitoma frontal derecho, en la evaluación neuropsicológica se evidenció alteraciones en funciones ejecutivas, fluidez de lenguaje discursivo y dificultad en habilidades instrumentales. La investigación se realizó bajo el diseño cuasi experimental de caso único, donde se aplicó en repetidas ocasiones a lo largo del tratamiento el Inventario de Adaptabilidad Mayo-Portland (MPAI-4) para determinar las dificultades funcionales del paciente. El objetivo de la rehabilitación neuropsicológica se centró en implementar estrategias de autoinstrucciones y automonitoreo, que pudieran ser aplicadas en contextos cotidianos y en intereses específicos del paciente. Los resultados indican que el proceso de rehabilitación neuropsicológica demostró tener un efecto positivo en la funcionalidad del paciente y las estrategias aprendidas pueden ser trasladadas a su vida cotidiana

The technological and scientific development on health in recent years has allowed improvements in diagnosis and treatment on brain tumor patients, have increase not only their survivor rate but also their need of neuropsychology and rehabilitation services due to cognitive alterations associated and the subsequent struggling with independence and functionality that reduces significantly their life quality. The present research documents the case of a male patient, 43 years old, referred to the service after resection of right frontal oligoastrocytoma, in the neuropsychologic evaluation evidenced executive functions, discursive language fluency alterations and difficulties in instrumental skills. The research was carried out under the quasi experimental design of a single case where there will be applied repeatedly during the course of treatment the Mayo-Portland Adaptability Inventory (MPAI-4) to identify functional difficulties on the patient. The objective of the neuropsychological rehabilitation focuses on implementing self-instruction and self-observance strategies in order to apply them on an ordinary context and the patient's specific areas of interest. The results indicate that the neuropsychological rehabilitation treatment has shown a positive effect on the patient's functionality and an improvement on his ability to apply the learned strategies to his day to day life.

Oligodendroglioma with Sarcomatous Transformation: Case Report and Literature Review

Oligodendrogliomas are infiltrative tumors of the central nervous systemconsidered to be morphologically stable and to offer a better prognosis. Here, we describe the case of a 36- year-old man with an initial diagnosis of oligodendroglioma, World Health Organization (WHO) grade II, who presented transformation to a sarcomatous form, while maintaining the oligodendroglial component as well as the genetic characteristics of the initial tumor without having undergone any complementary treatments previously. Despite the favorable genetic characteristics, the tumor presented poor response to complementary treatments, and rapid progression, including spinal metastasis.

Astrocitoma pilocítico en niños: Reporte de un caso / Pilocytic astrocytoma in children. Case Report

Se reporta el caso de un niño de 10 años que se presentó con dos semanas de enfermedad caracterizada por cefalea, vómitos, marcha tambaleante y somnolencia. El examen clínico reveló bradilalia, ataxia, hiperreflexia, nistagmo horizontal y vertical, parálisis del VI nervio craneal izquierdo y signos de frontalización. En la tomografía y resonancia cerebrales se encontró hidrocefalia obstructiva por un tumor de la fosa posterior. La anatomía patológica reveló Astrocitoma Pilocítico grado I (WHO)...

We report a 10 years old boy with 2 weeks of symptoms characterized by headache, vomiting, staggering gait and drowsiness. The initial clinical examination showed bradilalia, ataxia, hyperreflexia, horizontal and vertical nystagmus, VI left cranial nerve paresis and signs of frontalization. The brain CT and MRI showed a posterior fossa tumor causing hydrocephaly. The histhopatology revealed grade I pilocytic astrocytoma (WHO)...

A multi-tiered intervention to address behavioural and cognitive changes after diagnosis of primary brain tumour: a feasibility study.

PURPOSE: Untreated behavioural and cognitive changes after primary brain tumour (PBT) can result in challenging behaviours (CBs), with limited documentation on treatment approaches. This study explored the feasibility of employing a Behavioural Consultancy approach to manage CBs, targeting individuals with PBT, family and treating staff. METHODS: Participants were patients and families of two hospitals and health professionals from cancer/neurological services. A single-case experimental design piloted skill-based training and environmental changes in managing socio-behavioural impairments in a person with a low grade astrocytoma. A half-day workshop to train family members (n = 7) in compensatory strategy use to manage CBs after PBT was piloted. Finally, a 1-day workshop was provided to 43 health professionals in managing CBs after PBT. For both workshops, a pre-post impact evaluation was conducted employing a purpose-designed Strategies Use Measure. RESULTS: All three interventions demonstrated positive results. The single case showed a 71% decrease in the target behaviour (time spent talking) post-intervention. Some attrition to these gains was observed at two follow-up time points (3 and 5 months). Participants from both workshops demonstrated significant post-intervention increases in perceived knowledge of Strategy Use (family members z = 2.03, p < 0.05; health professionals z = 4.95, p < 0.00; Wilcoxon signed-rank test). CONCLUSIONS: These initial studies highlight the potential of employing an integrated multi-tiered intervention based on a Behavioural Consultancy model to manage CBs after PBT.

Comparison of functional outcomes in low- and high-grade astrocytoma rehabilitation inpatients.

OBJECTIVES: To compare inpatient rehabilitation outcomes between patients with low- and high-grade astrocytoma. DESIGN: A retrospective review of medical records for patients admitted from September 1, 1996, to June 30, 2008, to the inpatient rehabilitation unit at a tertiary care cancer center. A high-grade (21 of 443 patients) and low-grade astrocytoma (21 of 24 patients) group were matched on three of five criteria in the order of importance: area of brain involvement (divided into left cerebral, right cerebral, midline and/or bilateral cerebral, and infratentorial), single vs. multiple intracranial neurosurgical procedures, age (within 10 yrs), period of rehabilitation admission (within 3 yrs), and sex. Descriptive statistics were used to compare demographic data and scores in four categories (total, activities of daily living, mobility, and cognition) from the patients' functional independence measure assessment. RESULTS: No significant (P > 0.05) differences were found in demographics or efficiency between the two groups. The high-grade group had significantly (P < 0.05) higher total gain and longer stay in inpatient rehabilitation (mean +/- standard deviation, 21.7 +/- 10.1 vs. 13.0 +/- 9.3 and 13 +/- 7.1 day vs. 9 +/- 6.2 days, respectively) than did the low-grade astrocytoma group. CONCLUSIONS: Compared with patients with low-grade astrocytoma, patients with high-grade astrocytoma had higher total functional independence measure gain but also longer lengths of stay. Functional independence measure efficiencies were comparable between the two groups. Our results parallel those of previous rehabilitation outcome studies comparing patients with brain tumors with patients with brain injuries of other etiologies. Larger matched studies are needed for this patient population.

Subjective quality of life in persons with low-grade glioma and their next of kin.

Patients with low-grade glioma have a longer survival than patients with highly malignant glioma, and for this reason questions of quality of life (QoL) are of particular importance to such patients as well as to their next of kin. No studies have been found in which both adult patients with low-grade glioma and their next of kin have estimated their own QoL. This study was therefore designed to investigate the subjective QoL of these two groups. Thirty-nine patients with low-grade glioma selected from a well-defined county population and 27 next of kin participated in the study. The questionnaire used in the study was the subjective estimation of QoL. The main results and conclusions are as follows: the variable absence of work/meaningful occupation showed statistically significant lower ratings among patients than among next of kin. The results show significant influence mainly on the patients' and their next of kin's internal psychological condition; related to background variables but the pattern in the results was inconsistent. There is a need for recurrent rehabilitation during this long-term disease, and a need to give vocational rehabilitation to support the patient's desire to have a meaningful occupation. It is also of importance to include the patient's next of kin when offering rehabilitation.

Language outcomes subsequent to treatment of brainstem tumour in childhood.

While the occurrence and management of brainstem tumours in children would not traditionally indicate potential direct structural impact on classical language centres, recent theories have implicated some involvement of the brainstem in a functional language and cognitive neural loop between the cerebellum and the cerebral hemispheres. Thus, the present paper explored the impact of treatment for brainstem tumour on the general and high-level language abilities of six children treated for brainstem tumour, in addition to phonological awareness skills. Group analysis revealed that children treated for brainstem tumour demonstrated intact language and phonological awareness abilities in comparison to an age- and gender-matched control group. Individual analysis revealed only one of six children treated for brainstem tumour revealed evidence of language disturbances, with an additional child demonstrating an isolated mildly reduced score on one phonological awareness task. Language deficits identified in a child treated with a combination of both radiotherapy and chemotherapy were noted in the high-level language area of lexical generation. Findings highlighted that no overt language disturbances were evident in children treated for brainstem tumour. However, further analysis into higher-level language skills in the present study indicated that both general and high-level language abilities require long-term monitoring in this population.

Recuperación funcional cerebelosa en niños hemisferectomizados / Functional recovery after cerebellar hemispherectomy in children

Este trabajo tiene la finalidad de evaluar la recuperación funcional clínica en niños sometidos a hemisferectomía cerebelosa unilateral por neoplasia extensa en dicha estructura. Se estudiaron cinco pacientes masculinos y cinco femeninos, con edades entre los dos y 15 años, quienes presentaron síndrome cerebeloso hemisférico preoperatorio; el diagnóstico histopatológico fue meduloblastoma en siete y astrocitoma en tres. Todos fueron evaluados clínicamente antes y despúes de la cirugía, con un periodo de seguimiento hasta de 18 meses. En un tiempo promedio de 6.5 meses poscirugía, se observó que 70 por ciento presentó recuperación clínica total de la función cerebelosa. La hemisferectomía cerebelosa en niños con neoplasia extensa de esta estructura, sin invasión al tallo cerebral, no condiciona secuelas neurológicas permanentes y en algunos casos evita una recidiva tumoral temprana