Positive association of Bx genotype, KIR2L5, KIR2DS5 and full-length KIR2DS4 with the risk of meningioma.

BACKGROUND: NK cells as a part of innate immune system, are controlled by a set of activating and inhibitory KIR receptors (aKIR, iKIR) which are implicated in tumor microenvironment immunity through a variety of activating and inhibitory immune signals. KIRs are multi gene family receptors that differ in the number and type of genes among individuals. In the current research we determined the KIRs genes and genotypes impact on predisposition to meningioma development in Iranians. METHODS: Sequence-specific primers-polymerase chain reaction (SSP-PCR) was performed for genotyping of 16 KIRs in 159 meningioma cases and 362 age and sex matched healthy controls (CNs) at Shiraz Institute for Cancer Research. RESULTS: Comparison of the KIR genotypes frequencies between cases and controls disclosed a highly significant increase in Bx genotype, CxTx subset and Cen AB and Tel AB in meningioma cases and a decrease in AA genotype, C4Tx subset and Cen AA, Tel AA, Tel BB in healthy controls. Among all 16 KIR genes, the carriers of KIR2DL5 and KIR2DS5 constituted a much greater proportion in meningioma than control group. Comparison of carrier frequencies of KIR2DS4 variants between case and controls revealed a higher frequency of KIR2DS4 full length (KIR2DS4fl) in meningioma cases and a lower frequency of KIR2DS4 deleted variant (KIR2DS4del) in controls. Furthermore, the simultaneous presence of 2DS5, 2DS4fl, CenAB, TelAB and absence of 2DS4del, CenAA, TelAA, TelBB, magnify the risk of developing meningioma substantially (OR ≈ 23). Altogether, 41 distinct KIR genotypes were characterized in 521 subjects. Among them, some individuals were characterized by seven peculiar genotypes that the linkage disequilibrium between KIR2DS2-KIR2DL2 and KIR2DL5-KIR2DS3-KIR2DS5 has not been detected. The carriers of certain genotypes with presence of as KIR2DL5 and absence of KIR2DS3, KIR2DS5 constituted a much higher proportion in meningioma than control group which increase the risk of meningioma up to 72 times. CONCLUSION: This case- control study suggests carriers of Bx genotype, KIR2DL5, KIR2DS5, 2DS4fl, ≥ 4 iKIR, CxTx subset as well as Cen AB and Tel AB are associated with an increased risk of developing meningioma whereas carrying KIR2DS4del, AA, C4TX genotypes and Cen AA, Tel AA, Tel BB reduce the genetic predisposition for meningioma.

Undetected pituitary adenoma in a patient with retinitis pigmentosa.

BACKGROUND: Retinitis pigmentosa (RP) is one of the most severe hereditary retinal disorders with a worldwide prevalence reaching 1 in every 3000-5000 people and a total of almost one million affected individuals. RP is heterogeneous in its clinical presentations but typically presents as progressive visual dysfunction, including nyctalopia in adolescence, restricted peripheral vision (tunnel vision) in young adults, and loss of central vision at an advanced age. CASE DESCRIPTION: Herein, we want to report a case of RP who presented with gradual worsening of vision and headache, and further evaluation revealed a concomitant non-functional pituitary macroadenoma. Ophthalmologic evaluation revealed a little chance for him to regain his vision, so the patient refused to undergo endoscopic surgical resection. However, he is still under clinic-radiologic follow-up, to be evaluated for progression in tumor size and obstructive hydrocephalus. CONCLUSION: Presenting with similar symptoms of tunnel vision, the simultaneous occurrence of these two diseases in a patient may delay the diagnosis of the latter, leading to its progression.

Sphenoid Aspergilloma with Headache and Acute Vision Loss.

BACKGROUND: Fungal infection is a rare pathology in the sphenoid sinus, and extension into the pituitary fossa with visual loss has only been described in a few reports in the literature. Following publication of a recent report of pituitary abscess by Candida glabrata, we describe our own experience with a similar pathology. CASE DESCRIPTION: In the present report, we overview a diabetic patient who sustained aspergilloma in his sphenoid sinus with extension to the pituitary fossa. Clinical presentations are discussed along with an emphasis on the role of endoscopic endonasal drainage of the abscess as the mainstay of treatment. Following administration of intravenous amphotericin B for 6 days, endoscopic drainage of the aspergillus abscess was done. Visual acuity improved immediately after the operation. At the 12-month follow-up visit, the improvement in visual acuity was maintained and magnetic resonance imaging showed no recurrence. CONCLUSION: Correction of the underlying immune deficiencies, administration of intravenous antifungal agents perioperatively, endoscopic endonasal drainage of abscess, and a meticulous debridement of necrotic material, followed by a course of oral antifungal medication, comprises the standard treatment protocol for a fungus ball (aspergilloma) of the sphenoid sinus.

Transventricular Transvelar Approach to Trochlear Nerve Schwannoma: Novel Technique to Lesions of Inferior Pineal Region.

OBJECTIVES: The schwannoma of the trochlear nerve is rare and originates mostly from the distal parts in the interpeduncular cistern. A lesion on the proximal segment in the inferior pineal region is extremely rare. Because of the rarity of the disease, the surgical approach to this region for the resection of trochlear nerve schwannoma has not been well documented in the literature. We herein describe a novel approach to successfully resect the trochlear nerve schwannoma. METHODS: A 12-year-old boy presented with occipital headache, abnormal gait, and disturbed conjoined eye movement. He was diagnosed with a lesion in the inferior pineal region compressing the superior medullary velum into the roof of the fourth ventricle. A bilateral midline suboccipital craniotomy was performed, and the fourth ventricle was exposed. The lesion was approached through the fourth ventricle superior medullary velum (transventricular transvelar approach). The lesion was totally resected, and his histopathology examination revealed trochlear schwannoma. RESULTS: The patient's symptoms resolved, and he had no recurrence at 12-year follow-up with normal eye movement and vision. CONCLUSION: The transventricular transvelar approach is feasible and safe to treat a lesion of the lower part of the pineal region being pushed through the superior medullary velum.

Comparative Proteomic Analysis of Tumor Mesenchymal-Like Stem Cells Derived from High Grade versus Low Grade Gliomas.

OBJECTIVE: Gliomas are the most common primary brain tumors, and have been ranked as the fourth leading cause of cancer death. Tumor mesenchymal-like stem cells (tMSCs) contribute to the aggressive behavior of glial tumors by providing a favorable microenvironment for the malignant cells. The aim of our study was to identify differential proteome of tMSCs derived from low vs. high grade glioma tumors. MATERIALS AND METHODS: Patients with newly diagnosed low and high grade gliomas were included in this case control study. tMSCs were isolated from tumors using enzymatic digestion validated by flow cytometer analysis after sub-culturing. Differential proteomic analysis of tMSCs derived from low and high grade tumors was performed by two-dimensional gel electrophoresis and mass spectrometry. Protein spots with more than two fold differences and P values below 0.05 were considered as differentially expressed ones. RESULTS: In tMSCs isolated from low and high grade gliomas, different isoforms of mesenchymal-related proteins vimentin and transgelin were differentially expressed. Overexpressed proteins in tMSCs isolated from low grade gliomas were mitochondrial manganese-containing superoxide dismutase (Mn-SOD), 40S ribosomal protein SA, and GTP-binding nuclear protein, while in tMSCs isolated from high grade gliomas, cathepsin B, endoplasmin, ezrin, peroxiredoxin1, and pyruvate kinase (PK) were found to be significantly overexpressed. CONCLUSION: For the first time, we analyzed the differential proteomic profiles of tMSCs isolated from glioma tumors with different grades. It was found that molecules related to mesenchymal cells (vimentin and transglin), in addition to those related to tumor aggressiveness with potential secretory behavior (e.g. cathepsin B) were among differentially expressed proteins.

Eosinophilic granuloma at the cerebellopontine angle in an adult; a rare case report and literature review.

INTRODUCTION: Langerhans cell histiocytosis (LCH) is a rare immunologic disorder, identified by immature proliferation of histiocytes which may present as systemic or focal lesions. Eosinophilic granuloma (EG) is localized from of LCH mainly involving bones such as skull, femur, spine, ribs, mandible and pelvis. Cerebello-pontine (CP) angle is a rare anatomic location for involvement by EG. PRESENTATION OF CASE: A 32 year old man was being evaluated in our neuro-oncology clinic due to diplopia since 4 months ago. On physical examination he had left sided abducens paresis, hyposthesia over left half of his face and a decreased corneal reflex on left side. A magnetic resonance imaging (MRI) study revealed a lesion at left CP angle measuring 30×25×25mm in size which was isointense in T1, hypointense on T2 with homogenous enhancement in post-contrast study. A standard retrosigmoid approach was carried out for resection of this lesion. Pathology report of the frozen section depicted infiltration of eosinophils and large mono-nuclear cells. The infiltrative nature of the lesion encouraged us not to attempt further resection. Permanent pathology report was in favor of EG. Patient was referred to an oncology clinic for proceeding with the steroid therapy. DISCUSSION: To the best of authors' knowledge, this is the first report of EG at CP angle in an adult, in the literature. Infiltration of eosinophils and positivity for CD1a and S-100 renders the diagnosis unmistakable. CONCLUSION: When the diagnosis is suggestive of EG, incompletely excised lesions can be further managed by steroid therapy.