Clinical Neuroscience

[Molecular pathology of meningiomas]


SEPTEMBER 30, 2015

Clinical Neuroscience - 2015;68(09-10)


[Meningiomas represent nearly one-third of all adult primary brain tumours. According to their clinical and histologic appearance, they can be divided into WHO grades I-III. Almost 90% of meningiomas are benign, showing favourable response to conventional therapies, however, patients diagnosed with grade 2 and 3 tumours may have a poor prognosis. In addition, high frequency of tumour recurrence renders treatments more challenging even in benign meningiomas. Molecular-pathological profiling of meningiomas could lead to development of more effective therapies. Although the cytogenetic background of these tumours are already wellcharacterised, the majority of related genes and mutations is still unknown. Recently, high-throughput techniques enabled better characterisation of mechanisms involved in meningioma development, progression and recurrence. Furthermore, epigenetic dysregulation could offer new opportunities for both diagnosis and treatment of meningiomas. We provide a comprehensive overview of cytogenetic and molecular genetic defects as well as epigenetic alterations in meningiomas. Many of these may serve as biomarker or therapeutic target in the near future.]



Further articles in this publication

Clinical Neuroscience

Restless legs syndrome and insomnia frequency in patients with psoriasis

GULER Sibel, TEKATAS Aslan, ARICAN Özer, KAPLAN Sarı Özlem, DOGRU Yüce

Background - To assess the prevalence and severity of RLS in psoriasis patients and to investigate its effects on sleep and quality of life. Methods - Seventy patients with psoriasis in Trakya University Medical Faculty Dermatology Department and also applied to Neurology Department in the same center and 70 volunteer controls were enrolled in the study. Severity of the Restless Legs Syndrome (RLS) was determined using International Restless Legs Syndrome Study Group (IRLSSG) criteria among the patients who have been diagnosed with RLS based on IRLSSG criteria. The presence of insomnia in patients was detected using International Classification of Sleep Disorders (ICSD-II) criteria. Additionally, to evaluate the severity of the disease and quality of life, Psoriasis Area Severity Index (PASI) and Dermatology Life Quality Index (DLQI) tests were applied to the patients with psoriasis. Results - RLS frequency in patients with psoriasis was 28 (40%) compared to the control group 10 (14.2%), and the difference was statistically significant (p<0.001). IRLSSG severity scores were higher in patients with psoriasis who had insomnia secondary to RLS compared to those who did not have insomnia (p<0.001). The mean values of PASI were 7.54±6.52 in the presence of insomnia and 3.27±2.69 in the absence of insomnia. The difference was statistically significant (p<0.001). No significant difference was found in DLQI scores between patients with RLS and without RLS or between patients with and without insomnia (p>0.05). Discussions - RLS frequency in patients with psoriasis was significantly higher than in the control group. In addition, we found that RLS is more common but RLS severity was mildly high in patients with psoriasis relative to controls. However, there was a correlation between the increase in severity of RLS with secondary insomnia patients who were diagnosed with RLS. It may be beneficial to consider RLS and insomnia for each patient diagnosed with psoriasis.

Clinical Neuroscience

Multimodal quantitative characterization of intracranial epidermoid cysts: preliminary results

HORVÁTH Andrea, NAGY Szilvia Anett, PERLAKI Gábor, ORSI Gergely, BOGNER Péter, DÓCZI Tamás

Background and purpose - The differentiation of epidermoid cysts from other intracranial lesions with CT and conventional MR imaging is challenging. The risk of residual and recurrent disease is high and multimodal imaging should therefore promote a precise differential diagnosis. Since epidermoid cysts are histologically identical to middle ear cholesteatomas, MRI methods that are useful in the diagnosis of cholesteatoma; specifically EPI DWI and a non- EPI diffusion subtype (HASTE DWI) may possibly be applicable to epidermoid cysts. Besides testing the diagnostic utility of these methods on epidermoid cysts, our goal was to quantify the T1 and T2 relaxation times, the ADC values and the magnetization transfer ratios in order to acquire objective, characteristic information about their structure and contents. Finally, our goal was to provide the physician with a reliable, multimodal diagnostic tool that supports accurate surgical planning. Methods - Two patients with epidermoid cysts were examined. Besides the conventional MR scans EPI DWI, HASTE DWI, quantitative T1, T2 and magnetization transfer measurements were performed mappingwith a 3T MR scanner. After image registration, T1, T2 relaxation times and the magnetization transfer ratio inside a ROI were determined according to the lesion location on HASTE DWI. Mean ADC values inside the epidermoid cysts were also calculated by both mono-exponential and bi-exponential diffusion models. Results - Our results revealed relatively high T1 and T2 relaxation times and ADC values, and low magnetization transfer ratios in both subjects. Conclusion - HASTE-DW MRI provides accurate morphologic information on epidermoid cysts, while T1, T2, ADC and magnetization transfer ratio maps are quantitative techniques. Thus the combination of these methods results in a confident preoperative diagnosis and aids to determine the indication of retreatment in the event of recurrence.

Clinical Neuroscience

Turkish version Quality of Life in Essential Tremor Questionnaire (QUEST): Validity and reliability study

GULER Sibel, TURAN F. Nesrin

Background - Our aim was to translate the Quality of Life in Essential Tremor Questionnaire (QUEST) advanced by Troster (2005) and to analyse the validity and reliability of this questionnaire. Methods - Two hundred twelve consecutive patients with essential tremor (ET) and forty-three control subjects were included in the study. Permission for the translation and validation of the QUEST scale was obtained. The translation was performed according to the guidelines provided by the publisher. After the translation, the final version of the scale was administered to both groups to determine its reliability and validity. Results - The QUEST Physical, Psychosocial, communication, Hobbies/leisure and Work/finance scores were 0.967, 0.968, 0.933, 0.964 and 0.925, respectively. There were good correlations between each of the QUEST scores that were indicative of good internal consistency. Additionally, we observed that all of the QUEST scores were most strongly related to the right and left arms (p=0.0001). However, we observed that all of the QUEST scores were weakly related to the voice, head and right leg (p=0.0001). Discussion - These findings support the notion that the Turkish version of the Quality of Life in Essential Tremor (QUEST) questionnaire is a valid and reliable tool for the assessment of the quality of life of patients with ET.

Clinical Neuroscience

Quality of life of patients with non-diabetic peripheral neuropathic pain; results from a cross-sectional survey in general practices in Hungary


Background and purpose - There is a lack of data on the impact on health related quality of life of peripheral neuropathic pain in Hungary. The main aims of the study were to assess the health related quality of life of nondiabetic PeNP patients identified in general practices through screening, and to assess the relationship between condition specific pain scores and health state utilities. Methods - Non-diabetic patients aged ≥30 years were recruited in 10 general practices in Hungary. At first, patients filled in the PainDETECT Questionnaire (PD-Q) and those who have achieved ≥13 PD-Q score (unclear or possible neuropathic pain) were further assessed by the DN4 questionnaire. Patients with PD-Q score >18 or DN4 score ≥4 were considered to have PeNP and they completed the EQ-5D health questionnaire. Results - Among the 111 patients identified as non-diabetic PeNP patients the mean age was 62 (SD=14) years, 69% were women. Average EQ-5D score was 44% lower than the gender and age matched Hungarian norm (0.42 vs. 0.75, p<0.001) and it worsened with increasing pain intensity. The pain/discomfort and anxiety/depression were the most affected EQ-5D dimensions. Strong relationship was demonstrated between the PD-Q and EQ- 5D score. Most of the PeNP patients (86%) were undiagnosed. Conclusions - Non-diabetic PeNP pain has a huge negative impact on health related quality of life. Although PeNP is a serious chronic condition, the disease burden is seriously underestimated, both on the level of individuals and society, due to the fact that patients are rarely identified.

Clinical Neuroscience

[Transient pseudobulbar syndrome in unilateral frontal opercular infarcts]

RÓZSA Anikó, TORÁK Gyöngyi, NAGY Éva, KOVÁCS Krisztina, GÁCS Gyula

[The classic anterior (frontal) opercular syndrome (Foix- Chavany-Marie sy.) is a cortical pseudobulbar palsy mainly due to bilateral lesions of anterior brain operculum. In 2000 the authors had a 70-year old female patient with acute onset of swallowing and speaking difficulty. Neurological examination established a left facial central palsy, the palsy of the tongue and the soft palate, dysarthry, difficulty in chewing with left side hemiparesis. The CT scan showed a right side (one-sided) frontal opercular ischemic lesion. This event switched their attention especially to this group of cases and subsequently the authors collected 12 patients with these symptoms. Authors discuss the patomechanism of transient pseudobulbar palsy that occurs due to unilateral opercular lesion that the diaschisis effect might explain.]

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Clinical Neuroscience

Secretory meningioma with bone infiltration and orbital spreading

KÁLOVITS Ferenc, TAKÁTS Lajos, SOMOGYI Katalin, GARZULY Ferenc, TOMPA Márton, KÁLMÁN Bernadette

Secretory meningioma is a rare form of meningiomas which differentiates from the meningothelial subtype. It is characterized by significant peritumor edema and distinct immunohistochemical and molecular genetic profiles. We present a middle aged female patient with secretory meningioma infiltrating the orbital bone from the primary cranial base location and causing exophthalmos, features rarely described with this tumor. Surgical resection was challenging because of the associated brain swelling and rich vascularization of the tumor. Imaging and immunohistochemical studies revealed characteristic hallmarks of secretory meningioma. While histologically it was a benign tumor, due to the orbital bone and soft tissue infiltration, postoperative management of neurological sequelae was challenging. This case highlights distinctive clinical, imaging and histological features along with individual characteristics of a rare form of meningiomas.

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