OBJECTIVES: To identify potential plasma lipidomic biomarkers that distinguish non-metastatic medulloblastoma (nmMB) from metastatic medulloblastoma (mMB) in children. METHODS: In this prospective study, 17 children with mMB and 20 matched children with nmMB were enrolled. Plasma samples were analyzed using ultra-high-performance liquid chromatography-quadrupole time-of-flight mass spectrometry. Lipid metabolites were evaluated for their associations and diagnostic performance. RESULTS: Orthogonal partial least squares discriminant analysis based on lipid profiles clearly separated nmMB from mMB, and 14 differential lipids were identified, including DG(18:2/20:4/0:0) and SM(d18:1/20:0). Receiver operating characteristic analysis showed nine metabolites with area under the curve greater than 0.7. Differential lipids were enriched in sphingolipid, glycerophospholipid, and arachidonic acid metabolism, suggesting an association with the metastatic phenotype. CONCLUSIONS Plasma lipidomics provides a new approach to identify mMB, and the identified lipid metabolites may support early diagnosis and treatment, prognostic assessment, and selection of therapeutic targets for metastatic medulloblastoma.
Humans ; Medulloblastoma/diagnosis* ; Lipidomics ; Child ; Male ; Female ; Child, Preschool ; Cerebellar Neoplasms/blood* ; Biomarkers, Tumor/blood* ; Neoplasm Metastasis ; Prospective Studies ; Adolescent ; Lipids/blood*

The neurocognitive function and quality of life of 58 Korean survivors of childhood medulloblastoma were assessed after surgery, cranial radiation and chemotherapy. All patients were evaluated with a battery of neurocognitive function tests and the Pediatric Functional Assessment of Cancer Therapy-Brain Tumor Survivors, which consists of self-report questionnaires on quality of life. The mean full-scale intelligence quotient (IQ), verbal IQ, and performance IQ scores were 90.2, 97.1, and 84.16, respectively. The mean memory quotient (MQ) score was 86.78, which was within 1 standard deviation of the average score of 100. Processing speed, attention, and executive function showed mild to moderate deficits. Intelligence, memory, executive function, visuospatial function, and simple motor function were significantly lower in the patients diagnosed before 8 years of age compared with those diagnosed after 8. The cognitive deficits in the patients diagnosed at younger ages might be related to earlier exposure to craniospinal irradiation and chemotherapy. The patient and parent proxy evaluations of attention, fine motor function, and quality of life did not differ. We found significant neurocognitive changes in a wide range of neurocognitive functional domains in Korean survivors of childhood medulloblastoma. Long-term follow-up studies of survivors of childhood medulloblastoma beginning at the time of their first diagnosis are required to better understand the deficits exhibited by survivors of childhood medulloblastoma, so that intervention strategies and treatment refinements that reduce the long-term neurocognitive decline can be developed.
Cognition ; Cognition Disorders ; Craniospinal Irradiation ; Diagnosis ; Drug Therapy ; Executive Function ; Follow-Up Studies ; Humans ; Intelligence ; Korea ; Medulloblastoma* ; Memory ; Parents ; Proxy ; Quality of Life* ; Survivors*

Medulloblastoma is a common pediatric tumor typically diagnosed before the age of fifteen. Initial therapy includes surgical resection and radiation of the entire neuro-axis. Recurrence is common and typically occurs within 2 years of initial diagnosis. Those fitting Collin's Law is considered tumor-free. We report a case of single supratentorial recurrence 13 years after initial diagnosis. Here we present a 22 year old male presenting 13 years after initial diagnosis with isolated septum pellucidum recurrence. He underwent complete resection of the tumor. Medulloblastoma is a common in the pediatric population. Late recurrence to the ventricular system is uncommon. Long term follow-up is recommended in these patients.
Diagnosis ; Follow-Up Studies ; Humans ; Jurisprudence ; Male ; Medulloblastoma* ; Neuroectodermal Tumors, Primitive ; Recurrence* ; Septum Pellucidum

Extra-axial medulloblastoma is a rare phenomenon. We report a case in a 5-year-old boy who presented with nausea, vomiting, and gait disturbance. He was treated with total removal of the tumor. This is the first case of an extra-axially located medulloblastoma occurring in the cerebellar hemisphere posteriolateral to the cerebellopontine angle in Korea. Although the extra-axial occurrence of medulloblastoma is rare, it should be considered in the differential diagnosis of extra-axial lesions of the posterior fossa in children.
Cerebellopontine Angle ; Cerebellum ; Cerebrum ; Child ; Child, Preschool ; Diagnosis, Differential ; Gait ; Humans ; Korea ; Male ; Medulloblastoma* ; Nausea ; Vomiting

A correlation between radiation therapy and cavernoma has been suspected since 1994. Since then, only a few cases of radio-induced cavernomas have been reported in the literature (85 patients). Most of them were children, and the most frequent original tumour had been medulloblastoma. The authors report a case of two cystic cavernous angiomas after radiation therapy for atypical meningioma in adult woman. This is the first case of cavernous angioma after radiotherapy for low grade meningioma. A 39-year-old, Latin american woman was operated on for a frontal atypical meningioma with intradiploic component and adjuvant radiotherapy was delivered (6000 cGy local brain irradiation, fractionated over 6 weeks). Follow-up MR imaging showed no recurrences of the tumour and no other lesions. Ten years later, at the age of 49, she consulted for progressive drug-resistant headache. MR imaging revealed two new well defined areas of different signal intensity at the surface of each frontal pole. Both lesions were surgically removed; the histopathological diagnosis was cavernous angioma. This is the first case of cavernous angioma after radiation therapy for atypical meningioma : it confirms the development of these lesions after standard radiation therapy also in patients previously affected by non-malignant tumours.
Adult* ; Brain ; Child ; Diagnosis ; Female ; Follow-Up Studies ; Headache ; Hemangioma, Cavernous* ; Humans ; Magnetic Resonance Imaging ; Medulloblastoma ; Meningioma* ; Radiotherapy* ; Radiotherapy, Adjuvant ; Recurrence

OBJECTIVETo study the clinicopathologic features, immunohistochemical findings, diagnosis and differential diagnosis of atypical teratoid/rhabdoid tumors (AT/RT) of central nervous system in childhood.

METHODSThe clinicopathologic data, morphologic features and immunophenotypes were reviewed in 6 cases of AT/RT. EnVision method was applied. Antibodies include cytokeratin (CK), epithelial membrane antigen (EMA), vimentin, smooth muscle actin (SMA), muscle specific actin (MSA), glial fibrinary acid protein (GFAP), desmin, placental alkaline phosphatase (PLAP) and INI1.

RESULTSFive of the six cases of AT/RT occurred in infancy and early childhood. Histologically, the predominant component was rhabdoid cells. Cytoplasmic inclusions were present in all cases. Primitive neuroectodermal tumor (PNET) component was also identified in 5 of the 6 cases studied. Immunohistochemically, the tumor cells were positive for cytokeratin, epithelial membrane antigen and vimentin. The staining for INI1, desmin and PLAP was negative. Smooth muscle actin was expressed in 2 cases and glial fibrillary acidic protein in 5 cases. The proliferative index as demonstrated by Ki-67 staining was high.

CONCLUSIONSAT/RT is not a particularly uncommon malignancy in childhood. The histologic hallmark is the presence of rhabdoid cells with cytoplasmic inclusions. The tumor cells are positive for cytokeratin, epithelial membrane antigen and vimentin, and negative for INI1. Differential diagnosis includes PNET, medulloblastoma and medullomyoblastoma.

Brain Neoplasms ; metabolism ; pathology ; surgery ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Keratins ; metabolism ; Male ; Medulloblastoma ; metabolism ; pathology ; Mucin-1 ; metabolism ; Neuroectodermal Tumors, Primitive ; metabolism ; pathology ; Rhabdoid Tumor ; metabolism ; pathology ; surgery ; Teratoma ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Adult ; Diagnosis, Differential ; Humans ; MART-1 Antigen ; metabolism ; Magnetic Resonance Imaging ; Male ; Medulloblastoma ; metabolism ; pathology ; Melanocytes ; pathology ; Melanoma ; diagnosis ; metabolism ; pathology ; surgery ; Melanoma-Specific Antigens ; metabolism ; Meningeal Neoplasms ; diagnosis ; metabolism ; pathology ; surgery ; Neoplasms, Multiple Primary ; diagnosis ; metabolism ; pathology ; surgery ; Neurilemmoma ; metabolism ; pathology ; Nevus of Ota ; diagnosis ; metabolism ; pathology ; surgery ; S100 Proteins ; metabolism ; Skin Neoplasms ; diagnosis ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Animals ; Antigens, Nuclear ; metabolism ; Basic Helix-Loop-Helix Transcription Factors ; metabolism ; Biomarkers, Tumor ; metabolism ; Central Nervous System Neoplasms ; metabolism ; pathology ; Diagnosis, Differential ; Ependymoma ; metabolism ; pathology ; Humans ; Immunohistochemistry ; methods ; Intermediate Filament Proteins ; metabolism ; Medulloblastoma ; metabolism ; pathology ; Mucin-1 ; metabolism ; Nerve Tissue Proteins ; metabolism ; Nestin ; Neurocytoma ; metabolism ; pathology ; Oligodendrocyte Transcription Factor 2 ; Oligodendroglioma ; metabolism ; pathology

Cerebellar Neoplasms ; diagnosis ; pathology ; radiotherapy ; surgery ; Follow-Up Studies ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Medulloblastoma ; diagnosis ; pathology ; radiotherapy ; surgery

PURPOSE: Short stature is an important complication that impairs the quality of life in survivors of childhood brain tumors. We studied their final adult height (FAH) to evaluate risk factors for short stature. METHODS: We reviewed the medical data of 95 survivors of childhood brain tumors (64 males and 31 females) who had been followed up from 1982 to 2006, reached FAH, and had a more than five year-disease-free survival. RESULTS: Final adult height standard deviation score (FAHTSDS: mean+/-SD) of the patients was lower than those of general population (-1.15+/-1.72), HTSDS at diagnosis (-0.13+/-1.57), and target HTSDS (-0.49+/-0.69). FAHTSDS of craniopharyngioma patients did not decrease (0.57+/-1.17), but those of germ cell tumor and medulloblastoma patients were significantly reduced (-1.20+/-1.45, -2.70+/-1.46; P<0.05). The patients treated with craniospinal radiation or chemotherapy had lower FAHTSDS (-1.93+/-1.58, -2.27+/-1.44; P<0.01). In the spinal irradiation group, the younger the age at diagnosis was, the more the loss of FAH (r=0.442, P<0.01). Growth hormone replacement (GHR) didn't improve FAHTSDS, but starting GHR under 12 years was an independent factor for improving FAH once treatment methods were taken into account (P=0.01). CONCLUSION: The younger age at diagnosis, spinal radiation and chemotherapy were all important risk factors of height loss, and height gain was expected in patients who received GHR under the age of 12 years. Therefore, regular check-ups of growth and early intervention with growth hormones are needed for high risk groups to improv
Adult* ; Brain Neoplasms* ; Brain* ; Craniopharyngioma ; Diagnosis ; Drug Therapy ; Early Intervention (Education) ; Growth Hormone ; Humans ; Male ; Medulloblastoma ; Neoplasms, Germ Cell and Embryonal ; Quality of Life ; Risk Factors ; Survivors*