Clinical Neuroscience

[The clinical relevance of 1p19q codeletion of oligodendrogliomas at the Department of Neurosurgery in Debrecen]

KLEKNER Álmos, FEKETE Gábor, RENCSI Márta, MÉHES Gábor, SZABÓ Péter, BOGNÁR László

JANUARY 30, 2012

Clinical Neuroscience - 2012;65(01-02)

[Object - To determine the clinical relevance of 1p19q codeletion in case of patients treated between 2006 and 2008 with oligodendroglial tumor at the Department of Neurosurgery, University of Debrecen. Questions - Beside the traditional morphological investigations, methods of rapidly developing molecular pathology are also available for routine diagnostic procedures. Numerous studies confirm that the codeletion of the 1p and 19q alleles has a clinical relevance regarding the sensitivity for chemotherapy. In this study the connection between the 1p19q codeletion and clinical parameters was tested to evaluate the prognostic role of this genetic alteration in neurosurgical patients. Methods, clinical data - In the present study experiences about the clinical relevance of 1p19 codeletion is summarized. Between 2006 and 2008, 28 patients with brain tumor containing oligodendroglial component was tested for 1p19q codeletion. The result of the analysis was compared with clinical data such as tumor localization, extent of resection, histological grade, presence of astrocyte component, time of first recurrence, age and gender. Furthermore, the potency of 1p19q codeletion as a prognostic factor for chemosensitivity by analyzing the data of patients who underwent different treatment protocols was also evaluated. Results - Our results suggest that 1p19q codeletion can be valued as a positive prognostic factor, which is concordant with the results available in the literature. We also found positive correlation with oligodendroglial component, recurrence free survival of grade III tumors, sensitivity to chemoand radiotherapy, and inverse correlation with histological grade and age was detected. Conclusion - Though the 1p19q codeletion is currently not the part of the routine patient management, based on our study we found it appropriate for clinical use as a prognostic factor, and its predictive role in establishing oncotherapy can be also discussed.]

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[Mutation analysis of alpha-galactosidase A gene in Hungarian Fabry patients]

LÁSZLÓ Aranka, TÖRÖK László, RAFFAI Sarolta, TÖRÖK Éva, SALLAY Éva, ENDREFFY Emőke, MORVAI László, AMSTEL Ploos Van JK

[Aim was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients. Methods - Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene. Results - Case 1. (19 y. male patient) Mutation analysis was done for alpha-galactosidase gene, a missence mutation has been identified in the 5th exon, the aspartic acid at codon 266 has been substituted by a tyrosine (notation D266Y) due to a G-T transversion at position 10287 of the alpha GAL-A gene. Case 2. (28 y. male Fabry patient) The GAL-A mutation has been proven to be R220X mutation in exon 5 of the alpha-galactosidase A gene.]

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[Rare angioproliferative tumors mimicking aggressive spinal hemangioma with epidural expansion]

KULCSÁR Zsolt, VERES Róbert, HANZÉLY Zoltán, BERENTEI Zsolt, MAROSFŐI Miklós, NYÁRY István, SZIKORA István

[Background and purpose - We present two cases of angio-proliferative tumors that were misdiagnosed and treated as typical hemangiomas with epidural expansion. Materials and methods - Two middle-aged women presented with symptoms and radiological signs characteristic for aggressive hemangioma with epidural expansion. In the first case preoperative embolization and decompressive surgery with open transpedicular vertebroplasty was performed. Within less than a year, epidural recurrence of the tumor prompted for radical excision and corpectomy. The diagnosis after the histological studies and the further clinical evolution was metastasizing leiomyomatosis. No further recurrence occured during the next 6 years. In the second case percutaneous vertebroplasty was performed and complicated by epidural polymethyl-methacrylcate (PMMA) leakage, requiring urgent decompressive surgery. Histological study of the lesion raised the possibility of myopericytoma. This was confirmed 16 months later when complete vertebrectomy was performed due to severe epidural propagation of the recurring tumor. No further recurrence occurred in next the two years. Conclusions - Rare angio-proliferative tumors, like benign metastasizing leiomyoma and myopericytoma radiologically may resemble aggressive vertebral hemangiomas of the spine. Unlike hemangiomas, such tumors require radical removal due to their likely recurrence. As imaging studies may not be able to completely exclude such pathologies, bone biopsy and thorough histopathological studies are warranted prior to the therapeutic decision.]

Clinical Neuroscience

[Comment on the article of Dániel Bereczki et al. “The carrier model of neurology in Hungary: A proposal for the solution until 2020”]

HALÁSZ Péter

Clinical Neuroscience

[LETTER OF THE EDITOR IN CHIEF]

RAJNA Péter, TAJTI János

Clinical Neuroscience

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