A complex karyotype including a t(2;11) in a paediatric ependymoma: case report and review of the literature.

Ependymomas are glial tumours representing approximately 5-10% of all intracranial tumours and are the third most common primary brain tumour in childhood. Only a few karyotypic studies on paediatric ependymomas have been published and no specific chromosomal aberration has been specifically related to this type of cancer. We performed cytogenetic analysis of an ependymoma in an 11-year-old boy. Our patient showed a complex karyotype, characterized by a near-tetraploidy and a sole structural unbalanced aberration: der(2)t(2;11)(q11.2;q13.1), which has not been described before. We here discuss such cytogenetic findings, comparing our data with those reported in the literature.

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective.

PURPOSE: We aimed to test the hypothesis that medulloblastoma (MB) variants show a different age distribution and clinical behavior reflecting their specific biology, and that MB occurring at very young age is associated with cancer predisposition syndromes such as Gorlin syndrome (GS). EXPERIMENTAL DESIGN: We investigated the frequency, age distribution, location, response to treatment, outcome, and association with familial cancer predisposition syndromes in a series of 82 cases of MB in patients ages <14 years diagnosed at the Giannina Gaslini Children's Hospital, Genoa, between 1987 and 2004. RESULTS: Desmoplastic MB and MB with extensive nodularity (MBEN), were present in 22 of 82 cases (27%) and were more frequent in children ages

Successful treatment of trilateral retinoblastoma with conventional and high-dose chemotherapy plus radiotherapy: a case report.

Trilateral retinoblastoma (TRB) is a rare condition characterized by an intracranial neuroblastic tumor associated with bilateral or unilateral retinoblastoma (RB). The outcome is almost always fatal. An 18-month-old patient with familial bilateral RB was referred for a pineal lesion detected on a screening by magnetic resonance imaging. The child, considered inoperable by 2 different neurosurgical teams, was treated with conventional chemotherapy (methotrexate, vincristine, vepeside, cyclophosphamide, and carboplatin) plus tandem transplantation (vepeside/carboplatin and thiotepa/mephalan) followed by local radiotherapy. At 80 months from the diagnosis of TRB, the patient is alive and in complete remission, with no neuropsychologic consequences. An early and aggressive treatment may improve the prognosis of TRB.

A multimodal strategy based on surgery, radiotherapy, ICE regimen and high dose chemotherapy in atypical teratoid/rhabdoid tumours: a single institution experience.

PURPOSE: Atypical Teratoid/Rhabdoid Tumour is a rare and aggressive childhood tumour. The outcome of a series treated with the same multimodal strategy was reported. PATIENTS: The patients were treated with surgery, 2 courses of ifosfamide/carboplatin/etoposide(ICE), 2 courses of cyclophosphamide/etoposide/carboplatino/thiotepa (CECAT) or 2 other ICE courses, high dose chemotherapy (HDC) and radiotherapy. RESULTS: Eight patients underwent primary surgery achieving a complete removal in 3. Progressive disease (PD) occurred in 2/8 patients during ICE courses and in 3/4 during CECAT courses. After 4 courses 5 patients presented a PD. HDC was performed in 3 patients followed by local radiotherapy. The Kaplan Meier OS and EFS probability at 5 years are, respectively, 50% (CI 11-80%) and 33% (CI 6-66%). CONCLUSION: A strategy based on surgery, including a second surgical look, and on radiotherapy appears the best option. ICE regimen and HDC correlate with good prognosis in some patients but this approach needs further evaluation.

Epithelioid osteosarcoma of the jaw.

Epithelioid osteosarcoma (OS) is a rare sub-type of OS with an aggressive behavior. An epithelioid OS was diagnosed in an 8-year-old female with painful swelling of the left jaw. After two courses of chemotherapy (cisplatin/methotrexate/doxorubicin), the patient presented a progressive disease. After hemimandibulectomy, 13 courses of post-operative chemotherapy (cisplatin/methotrexate/doxorubicin/ifosfamide) were performed. Histological and ultra-structural examination showed a high grade neoplasm consisting of sheets of epithelioid cells with focal osteoid formation. The patient is alive and in complete remission 42 months from diagnosis.

Use of ICF to describe functioning and disability in children with brain tumours.

PURPOSE: To underline the importance of Environmental Factors for reducing Disability and to demonstrate the complex condition of life, especially in terms of social inclusion and participation for children and adolescents affected by brain tumour. METHOD: An observational study applying the ICF version for Children and Youth (ICF-CY), the quality of life KIDSCREEN questionnaires and the Vineland assessment was performed. Age-specific ICF-CY Questionnaires were used to interview children at three time-points. RESULTS: Twenty-nine children were enrolled. Social life and relationships were crucial for defining children's disability level: formal and informal relationships showed to be very relevant to improve functioning (presence of facilitators in terms of more that 20% of cases). The severity of the disease makes the attention deeply focussed on treatment, neglecting other very important aspects in children's or adolescents' life such as their participation in life. CONCLUSIONS: The project highlighted some relevant issues about functioning and disability of these patients, in light of ICF's Biopsychosocial model of disability. Different rehabilitation projects are necessary for children and adolescents living after brain tumour. Considering treatment and the severity of tumour is very important to define pathways that should also include social and interpersonal aspects.

Acquired amnesia in childhood: a single case study.

We report the case of C.L., an 8-year-old child who, following the surgical removal of an ependymoma from the left cerebral ventricle at the age of 4 years, developed significant difficulties in retaining day-to-day events and information. A thorough neuropsychological analysis documented in C.L. a severe anterograde amnesic syndrome, characterised by normal short-term memory, but poor performance on episodic long-term memory tests. In particular, C.L. demonstrated virtually no ability to recollect new verbal information several minutes after the presentation. As for semantic memory, C.L. demonstrated general semantic competencies, which, depending on the test, ranged from the level of a 6-year-old girl to a level corresponding to her actual chronological age. Finding a patient who, despite being severely impaired in the ability to recollect new episodic memories, still demonstrates at least partially preserved abilities to acquire new semantic knowledge suggests that neural circuits implicated in the memorisation of autobiographical events and factual information do not overlap completely. This case is examined in the light of growing literature concerned with the dissociation between episodic and semantic memory in childhood amnesia.

Hyperfractionated radiotherapy and chemotherapy for childhood ependymoma: final results of the first prospective AIEOP (Associazione Italiana di Ematologia-Oncologia Pediatrica) study.

PURPOSE: A postsurgical "stage-based" protocol for ependymoma was designed. METHODS AND MATERIALS: Children were given: (1) focal hyperfractionated radiotherapy (HFRT) if with no evidence of disease (NED), or (2) 4 courses with VEC followed by HFRT for residual disease (ED). HFRT dose was 70.4 Gy (1.1 Gy/fraction b.i.d.); VEC consisted of VCR 1.5 mg/m2 1/w, VP16 100 mg/m2/day x 3, CTX 3 g/m2 d 1. When feasible, second-look surgery was recommended. RESULTS: Sixty-three consecutive children were enrolled: 46 NED, 17 ED; the tumor was infratentorial in 47 and supratentorial in 16, with spinal metastasis in 1. Of NED patients, 35 of 46 have been treated with HFRT; 8 received conventionally fractionated radiotherapy, and 3 received no treatment. Of the 17 ED patients, 9 received VEC + HFRT; violations due to postsurgical morbidity were as follows: HFRT only (2), conventionally fractionated radiotherapy (3) + VEC (2), and no therapy (1). Objective responses to VEC were seen in 54%; objective responses to RT were seen in 75%. Overall survival and progression-free survival at 5 years for all 63 children were 75% and 56%, respectively; for the NED subgroup, 82% and 65%; and for the ED subgroup, 61% and 35%, respectively. All histologies were centrally reviewed. At multivariate analysis, grading, age, and site proved significant for prognosis. CONCLUSIONS: HFRT, despite the high total dose adopted, did not change the prognosis of childhood ependymoma as compared to historical series: New radiotherapeutic approaches are needed to improve local control. Future ependymoma strategies should consider grading when stratifying treatment indications.

Antibiotic lock with vancomycin and urokinase can successfully treat colonized central venous catheters in pediatric cancer patients.

We used an antibiotic lock technique with vancomycin in combination with urokinase in 10 consecutive eligible children with Gram-positive catheter-related bacteremia persisting after appropriate intravenous antibiotics. Treatment was successful in sterilizing all colonized central venous catheters, avoiding device removal and delay of further chemotherapy. The antibiotic lock technique may represent a safe and effective therapeutic option in patients with selected, uncomplicated catheter-related bacteremias resistant to systemic antimicrobial therapy, particularly when maintaining a venous access is mandatory.

Adaptive functioning in children in the first six months after surgery for brain tumours.

PURPOSE: To examine the adaptive functioning of children who underwent surgery for brain tumours with a view to analyse the related acute impairments and to describe their short-term outcome. METHOD: We investigated adaptive functioning in 25 children (ranging from 2 to 18 years of age) for 40 days and again 3 and 6 months after they underwent surgery for various brain tumours. The Vineland Adaptive Behaviour Scales (VABS) were used to assess their adaptive functioning, considering the four main domains and all the subdomains. RESULTS: The results remained stable over the follow-up period considered. The domain in which the scores were most severely affected was Daily Living, followed by the Socialisation and Communication domains. Within the Communication domain, the abilities investigated in the Receptive subdomain revealed the worst impairments. Within the Daily Living domain, impairments were most evident in the children's capacity to take care of themselves and handle domestic activities. In the Socialisation domain, Play and Leisure Time, and Interpersonal Relationships were the subdomains most severely impaired. CONCLUSIONS: These findings are relevant because identifying children's adaptive functioning difficulties sooner could help their rehabilitation to be tailored and thus have a positive fallout on their long-term outcome.

Infant ependymoma in a 10-year AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) experience with omitted or deferred radiotherapy.

PURPOSE: The protocols of the 1990s omitted or delayed irradiation, using upfront chemotherapy to spare the youngest children with ependymoma the sequelae of radiotherapy (RT). We treated 41 children under the age of 3 years with intracranial ependymoma between 1994 and 2003. PATIENTS AND METHODS: After surgery, chemotherapy was given as follows: regimen I with four blocks of vincristine, high-dose methotrexate 5 g/m(2), and cyclophosphamide 1.5 g/m(2) alternating with cisplatin 90 mg/m(2) plus VP16 450 mg/m(2) for 14 months; subsequently, regimen II was used: VEC (VCR, VP16 300 mg/m(2), and cyclophosphamide 3 g/m(2)) for 6 months. Radiotherapy was planned for residual tumor after the completion of chemotherapy or for progression. RESULTS: We treated 23 boys and 18 girls who were a median 22 months old; 14 were given regimen I, 27 were given regimen II; 22 underwent complete resection, 19 had residual tumor. Ependymoma was Grade 2 in 25 patients and Grade 3 in 16; tumors were infratentorial in 37 patients and supratentorial in 4. One child had intracranial metastases; 29 had progressed locally after a median 9 months. Event-free survival was 26% at 3 and 5 years and 23% at 8 years. One child died of sepsis, and another developed a glioblastoma 72 months after RT. Progression-free survival was 27% at 3, 5, and 8 years, and overall survival was 48%, 37%, and 28% at 3, 5, and 8 years, respectively. Of the 13 survivors, 6 never received RT; their intellectual outcome did not differ significantly in those children than in those without RT. CONCLUSIONS: Our results confirm poor rates of event-free survival and overall survival for up-front chemotherapy in infant ependymoma. No better neurocognitive outcome was demonstrated in the few survivors who never received RT.