Ganglioglioma is a benign slow-growing neoplasm that most frequently occurs at the supratentorial region. Nevertheless, there are occasional reports of ganglioglioma occurring in the brainstem and spinal cord. Here we report a rare case of the craniocervical ganglioglioma. A 3.5-year-old male, presented with severe progressive quadriparesis, gait disturbance, and sphincter deficit. Physical examination demonstrated the quadriparesis, associated with positive Hoffman, Babinski, and clonus signs, and increased respond of deep tendon reflexes. Magnetic resonance imaging (MRI) demonstrated an ill-defined mass within medulla and upper cervical spinal cord, which was hypo to iso signal on T1, heterogeneous iso to hypersignal on T2 and demonstrated marked bright enhancement on T1 with gadolinium (Gad) injection. On surgery, the mass had a soft texture, ill-defined border, and grey to brown appearance. According to the frozen section report, and due to the absence of the tumour-neural parenchymal interference, only decompression of the tumour and expansile duraplasty were performed. The histopathology revealed ganglioglioma. On last follow-up 14 months after surgery, the patient was asymptomatic and neurological status was improved. The craniocervical MRI demonstrated the tumour that did not grow. Although it is rare, the ganglioglioma should be in the differentiated diagnoses of tumours with compatible clinical and radiologic features even in the unusual locations, especially in the pediatric and young patients. Safety surgical resection should be considered in these patients, whenever possible. In the case of partial resection, that is common in the tumours located within functionally critical structures, long close follow-up rather than radiation therapy is required.

• Klíčová slova
• Cervicomedullary junction, Ganglioglioma, Intractable seizure, Posterior fossa, Spinal cord,
• MeSH
• dítě MeSH
• gangliogliom * diagnostické zobrazování   chirurgie   MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• nádory mozku * diagnostické zobrazování   chirurgie   MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

The DNA damage response (DDR) machinery becomes commonly activated in response to oncogenes and during early stages of development of solid malignancies, with an exception of testicular germ cell tumors (TGCTs). The active DDR signaling evokes cell death or senescence but this anti-tumor barrier can be breached by defects in DDR factors, such as the ATM-Chk2-p53 pathway, thereby allowing tumor progression. The DDR barrier is strongly activated in brain tumors, particularly gliomas, due to oxidative damage and replication stress. Here, we took advantage of rare human primary intracranial germ cell tumors (PIGCTs), to address the roles of cell-intrinsic factors including cell of origin, versus local tissue environment, in the constitutive DDR activation in vivo. Immunohistochemical analysis of 7 biomarkers on a series of 21 PIGCTs (germinomas and other subtypes), 20 normal brain specimens and 20 glioblastomas, revealed the following: i) The overall DDR signaling (γH2AX) and activation of the ATM-Chk2-p53 pathway were very low among the PIGCTs, reminiscent of TGCTs, and contrasting sharply with strong DDR activation in glioblastomas; ii) Except for one case of embryonal carcinoma, there were no clear aberrations in the ATM-Chk2-p53 pathway components among the PIGCT cohort; iii) Subsets of PIGCTs showed unusual cytosolic localization of Chk2 and/or ATM. Collectively, these results show that PIGCTs mimic the DDR activation patterns of their gonadal germ cell tumor counterparts, rather than the brain tumors with which they share the tissue environment. Hence cell-intrinsic factors and cell of origin dictate the extent of DDR barrier activation and also the ensuing pressure to select for DDR defects. Our data provide conceptually important insights into the role of DNA damage checkpoints in intracranial tumorigenesis, with implications for the differential biological responses of diverse tumor types to endogenous stress as well as to genotoxic treatments such as ionizing radiation or chemotherapy.

• Klíčová slova
• ATM-Chk2-p53 pathway, DNA damage signaling, Gliomas, Intracranial germ cell tumors, Testicular germ cell neoplasms,
• MeSH
• ATM protein genetika   metabolismus   MeSH
• checkpoint kinasa 2 genetika   metabolismus   MeSH
• dítě MeSH
• dospělí MeSH
• gangliogliom genetika   MeSH
• germinální a embryonální nádory genetika   MeSH
• glioblastom genetika   MeSH
• imunohistochemie MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nádory mozku genetika   MeSH
• novorozenec MeSH
• poškození DNA genetika   MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• ATM protein, human MeSH Prohlížeč
• ATM protein MeSH
• checkpoint kinasa 2 MeSH
• CHEK2 protein, human MeSH Prohlížeč

BACKGROUND: The risks of stereotactic biopsy are increased not only in tumors located in the vicinity of vascular structures, but also in cystic, intraventricular, and periventricular lesions. The use of neuroendoscopy for cystic, intraventricular, or periventricular brain tumors is particularly advantageous because of the possibility of biopsy and immediate hemostasis under direct vision. Neuroendoscopy provides the possibility of controlling tumor-associated obstructive hydrocephalus by means of endoscopic third ventriculostomy or septostomy. The literature gives good evidence for the diagnostic benefits of neuroendoscopic biopsy. The correlation of the histology obtained by neuroendoscopic biopsy and subsequent surgical resection may allow the evaluation of the validity of diagnostic neuroendoscopic biopsy. MATERIALS AND METHODS: Between 2003 and 2010, 23 patients with suspected cystic brain tumor (12 males; age range, 21-75 years; mean age, 49.7 years; and 11 females; age range, 22-76 years; mean age, 59.1 years) and 35 patients with intraventricular or periventricular brain tumors (19 males; age range, 6-80 years; mean age, 43.9 years; and 16 females; age range, 11-78 years; mean age, 46.2 years) underwent navigated neuroendoscopic biopsy. RESULTS: Diagnostic samples were obtained in all cystic tumors and in 94.7% of intraventricular or periventricular tumors. Tumor resection after neuroendoscopic biopsy was performed in seven patients with cystic tumors. The results of the histological analysis of samples taken during endoscopic biopsy and surgical resection were identical in five of these patients (70.1%). Four patients with intraventricular or periventricular tumors underwent tumor resection after neuroendoscopic biopsy. The histological results of neuroendoscopic biopsy and tumor resection were identical in three patients (75%). Neuroendoscopic biopsy was performed in six patients with expansive pseudocyst after tumor resection and oncological therapy. The results of the neuroendoscopic biopsy matched the results of open surgery in four patients (66%). In the two remaining patients, there was a difference in tumor grading. CONCLUSION: The diagnostic accuracy of neuroendoscopic biopsy samples can be compared with the results of stereotactic biopsy. The histological results of endoscopically taken biopsy samples and the final histological results obtained during open surgery correlate in the majority of patients, and underlines the high diagnostic validity of neuroendoscopic biopsy.

• MeSH
• astrocytom patologie   chirurgie   MeSH
• biopsie metody   MeSH
• dítě MeSH
• dospělí MeSH
• gangliogliom patologie   chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nádory mozku patologie   chirurgie   MeSH
• neuroendoskopie metody   MeSH
• oligodendrogliom patologie   chirurgie   MeSH
• retrospektivní studie MeSH
• senioři MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• dospělí MeSH
• gangliogliom diagnóza   patologie   MeSH
• lidé MeSH
• mladý dospělý MeSH
• nádory mozku diagnóza   patologie   MeSH
• spánkový lalok * patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• gangliogliom diagnóza   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory mozku diagnóza   patologie   MeSH
• neuroepitelové nádory diagnóza   patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH