Target Coil Embolization Using the Combined Transarterial and Transvenous Balloon-assisted Technique for Traumatic Direct Carotid Cavernous Fistula.

Herein, we describe a case of traumatic direct carotid cavernous fistula (DCCF) treated with target coil embolization using the combined transarterial and transvenous balloon-assisted technique. The patient was a 59-year-old woman who had been involved in a vehicular accident. She was admitted to the hospital due to chemosis and exophthalmos. Cerebral angiography revealed a shunt from the internal carotid artery (ICA) to the cavernous sinus (CS), which indicated DCCF. Thus, target coil embolization using the combined transarterial and transvenous balloon-assisted technique was performed. Angiography was performed 1 week after surgery to confirm the disappearance of DCCF. No recurrence was observed during the 1-year follow-up after treatment. Thus, target coil embolization using the combined transarterial and transvenous balloon-assisted technique is safe and effective for the treatment of traumatic DCCF.

[Spontaneous Retroclival Subdural Hematoma Diagnosed Using Magnetic Resonance Imaging in an Adult Patient:A Case Report].

Spontaneous retroclival subdural hematoma is rare among adults. To the best of our knowledge, only six cases have been reported. A 73-year-old man presented with sudden severe headache, diplopia, and dysarthria, with no history of trauma. Head CT revealed a retrociliary hematoma. No obvious causes of bleeding, such as cerebral aneurysms or malformations, were detected. Conservative treatment was provided to the patient. MRI showed an intraventricular hemorrhage and a space between the basilar artery and hematoma three days after onset. The hematoma almost disappeared on day 7. MRI, particularly T2-weighted sagittal MRI, is effective in localizing hematomas and confirming intraventricular hemorrhages.

High HMGA2 expression without gene rearrangement in meningiomas.

High mobility group AT-hook 2 (HMGA2) is a non-histone transcriptional regulator protein. Aberrant expression of the HMGA2 gene (HMGA2) and structural rearrangement at the chromosomal region 12q14 with HMGA2 involvement have been reported in several mesenchymal tumors. We analyzed truncated and full-length HMGA2 expression in 55 cases of meningioma, the most common brain tumor of mesenchymal origin. Fluorescence in situ hybridization and 3'-rapid amplification of cDNA ends were used to investigate the possibility of gene rearrangements. Moreover, the relationship between HMGA2 expression and clinicopathological features was assessed. Compared with normal brain tissues, 95% of the meningioma tissues exhibited increased HMGA2 expression. In 14 cases, the expression of truncated HMGA2 was more than two-fold higher than that of paired full-length HMGA2. Chromosomal translocation involving the chromosomal region 12q14 was undetectable. No significant correlation was found between the Ki-67 labeling index and HMGA2 expression and between the HMGA2 expression and the clinicopathological features. The majority of the meningioma cases displayed increased HMGA2 expression, which was not attributed to the chromosomal rearrangement at the corresponding region. Similar to that in the other mesenchymal tumors, increased HMGA2 expression was not associated with tumor cell proliferation in meningiomas.

Rare clinical presentations of pleomorphic xanthoastrocytoma with a high proliferative index: Two case reports.

INTRODUCTION: Pleomorphic xanthoastrocytomas (PXA) are rare, typically benign, slow-growing tumors that commonly occur in the cerebral hemispheres. We describe two cases of clinically aggressive PXA with uncommon locations; one was in the tectal plate, and the other had simultaneous multicentric lesions. PATIENT CONCERNS: The both cases presented with severe headache with no significant past medical history. DIAGNOSIS: PXA World Health Organization grade II were histopathologically diagnosed from surgically resected specimens, and immunohistochemical and sequence analysis revealed a high Ki-67 proliferative index and BRAF V600E mutation in both the cases. INTERVENTIONS: The first case presented with multicentric lesions and underwent partial resection, whereas the second case presented with a tectal plate tumor that was managed by gross total surgical resection. Strong 5-aminolevulinic acid (5-ALA)-induced fluorescence was observed in both the lesions. Postoperative radiotherapy plus concomitant and adjuvant temozolomide was administered to both the patients. OUTCOMES: Despite completing adjuvant chemo-radiotherapy, both the patients had local tumor recurrence at 2 and 5 months after the operation, respectively. CONCLUSION: The progressive clinical courses in our cases suggest that additional postoperative therapy should be considered during the treatment of PXA with a high Ki67 index, and that temozolomide with radiotherapy, followed by temozolomide maintenance therapy, may not prevent recurrence in such tumors. Importantly, our experience implies that unlike other subtypes of low grade gliomas, 5-ALA fluorescence is useful for intraoperative visualization of PXA.

Increased Twist and ZEB2 expression in a cutaneous metastasis of high-grade glioma.

Extra-central nervous system metastasis of gliomas is extremely rare, and the biological mechanism underlying it remains poorly understood. Epithelial-to-mesenchymal transition (EMT) has received attention as one of the important processes of cancer metastasis. Here we describe the case of a 32-year-old man with cutaneous metastasis of high-grade glioma, together with the analysis of EMT-related molecules. Our patient presented with a high-grade glioma in the right frontal lobe. Cutaneous metastasis under the surgical scar developed 17 months after complete resection of the intracranial tumor. Histopathology of both the original and metastatic tumors revealed hypercellularity; the tumors predominantly comprised glial tumor cells with poor cellular processes. Immunohistochemical analysis demonstrated intense expression of nestin, focal expression of glial fibrillary acid protein, and absence of expression of oligodendrocyte transcription factor 2, endothelial membrane antigen, or neurofilament. Genetic analyses could not provide definitive diagnostic information of glioma subtypes. Immunohistochemical analysis for EMT-related biomarkers demonstrated increased Twist, zinc finger E-box-binding homeobox 2 (ZEB2), matrix metalloproteinase 2 (MMP2), and MMP9 expressions in tumor cells of the metastatic lesion compared with those of the primary lesion. Slug, E-cadherin, and N-cadherin expression were absent in both primary and metastatic lesions; however, ZEB1 expression was present in both. Our results suggest that Twist, ZEB2, MMP2, and MMP9 facilitate cutaneous metastasis of gliomas.

Clinical relevance of BRAF status in glial and glioneuronal tumors: A systematic review.

Alterations in the BRAF gene have been reported to play a key role in the tumorigenesis of various tumors. Recent studies have shown the existence of BRAF alterations in ganglioglioma (GG), pilocytic astrocytoma (PA), pleomorphic xanthoastrocytomas (PXA), and epithelioid glioblastoma (eGBM). The focus of this review was the association between the clinical characteristics and BRAF status in these glial and glioneuronal tumors. The BRAF abnormalities, KIAA1549-BRAF fusion and BRAF mutation, were detected in approximately 50% of the analyzed tumors regardless of the tumor location, and there were site-specific BRAF abnormalities that became more remarkable on analysis by each tumor subtype. The median age of patients with KIAA1549-BRAF fusion was much lesser than that of those with BRAF mutations. Histological analysis indicates that the existence of KIAA1549-BRAF fusion is related to pilocytic morphology. The review of imaging features indicated that cyst formation is associated with the existence of KIAA1549-BRAF fusion in PA and GG and the lack of BRAF mutation in GG. Hemorrhage was significantly present in cases of GG with KIAA1549-BRAF fusion, but no relevance was shown in cases with BRAF mutations. No significant relevance was detected between the presence of calcification and BRAF alterations. Our clinical and genetic review of BRAF-related tumors indicated that the KIAA1549-BRAF fusion was strongly associated with PA, but not with other glial and glioneuronal tumors.

Undifferentiated sarcoma of the sphenoid sinus.

Paranasal sinuses sarcomas are rare and no treatments have been established. We report a young-adult case of sphenoid sinus sarcoma treated by carbon-ion radiotherapy. The patient presented with progressive left-sided visual impairment. A tumor was then identified and partial resection by transnasal approach was performed. The resected mass showed typical morphology of mesenchymal tumor, and morphological and molecular analyses ruled out a predominant-differentiation phenotype. The pathological diagnosis was undifferentiated sarcoma. The residual lesion was treated with carbon-ion radiotherapy, and tumor progression was absent for one year. The patient died of the tumor regrowth 20 months after initial diagnosis. Although this case had a poorer outcome compared with cases of the more-common sarcoma types, our experience suggested that carbon-ion radiotherapy is potentially beneficial in unresectable undifferentiated sarcomas cases of sphenoid sinus.

Preoperative Embolization for Skull Base Meningiomas.

The results of preoperative embolization for skull base meningiomas were retrospectively evaluated to confirm the efficacy of this procedure. Skull base meningiomas that were treated with preoperative embolization were evaluated in 20 patients. The occluded arteries, embolic materials, treatment time, excision rate, neurologic manifestations, and complications were analyzed. The embolic material was 80% liquid, 30% coils, and 15% particles. The surgery was normally completed within 3 to 5 hours. Blood loss was normally approximately 250 mL, excluding four patients having the following conditions: malignant meningioma, a large tumor located on the medial side of the sphenoidal ridge, the petroclival tumor, and infiltrated tumor into the sigmoid sinus. The mean excision rate was 90%, achieving a Simpson grade III, but 10% were graded as Simpson grade IV. No permanent complications due to the preoperative embolization occurred. No neurologic symptoms occurred after excision. Current cerebral endovascular treatment is sophisticated, and the complication rate has markedly decreased. Although it was impossible to compare directly with or without operative embolization, preoperative embolization should be actively used as part of the treatment for this benign tumor, with better understanding of dangerous anastomosis.

[A Case of Subgaleal Hematoma with Exophthalmos and Diplopia].

A 9-year-old girl struck the left side of her head on a doorknob, after which she gradually developed swelling. She was treated conservatively at another hospital before being referred and admitted to our hospital 9 days after injury, with complaints of exophthalmos and diplopia. Computed tomography (CT) scanning and magnetic resonance imaging (MRI) revealed a subgaleal hematoma (SGH). We therefore attempted to treat the patient by aspiration of the hematoma via needle puncture through the skin, for which we wrapped an elastic band around the head while infusing a hemostatic agent. No vascular anomalies and no abnormal shunts were identified by angiography under general anesthesia 13 days after injury. The patient was treated surgically due to increased head swelling and deteriorated exophthalmos. The liquefied, dark-red SGH was aspirated via a few cm of skin and a galeal incision on the left side of her head. A multiperforated drainage catheter was introduced into the hematoma cavity and the drainage catheter was connected to the vacuum-drain pump. After the surgery, the left exophthalmos disappeared. Twenty-three days after injury, she was discharged from our hospital without any neurological deficits.

Localized overexpression of alpha-internexin within nodules in multinodular and vacuolating neuronal tumors.

Multinodular and vacuolating neuronal tumors (MVNT) have been recently referred to as a distinctive neuronal tumor entity based on histopathological findings. They are characterized by multiple tumor nodules, vacuolar alteration and widespread immunolabeling for human neuronal protein HuC/HuD. Only 13 cases have been reported in the literature to date and little is known about the histopathology of these tumors. Herein, we report a case of MVNT with additional confirmation of immunohistochemical features. A 22-year-old woman presented with a continuous headache. MRI showed a subcortical white matter lesion with multiple satellite nodules in the frontal lobe appearing as T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities. Histological examination of the resected lesion revealed well-defined multiple nodules composed of predominant vacuolating tumor cells. The tumor cells exhibited consistent immunolabeling for doublecortin, as well as HuC/HuD, both representative neuronal biomarkers associated with earlier stages of neuronal development. Immunopositivity for oligodendrocyte transcription factor 2 (Olig2) and S100 was also detected in tumor cells. Additionally, significant overexpression of alpha-internexin was observed in the background neuropil limited to tumor nodules. Neuronal nuclear antigen (NeuN), synaptophysin and neurofilament, markers for mature neurons, were either negative or weakly positive. The expression profile of neuronal biomarkers can be distinguished from that of classic neuronal tumors and is the immunohistochemical hallmark of MVNT. In summary, we identified the characteristic tumoral expression of HuC/HuD and doublecortin and the presence of abundant neuropil localized in MVNT tumor nodules, which exhibited widespread alpha-internexin expression. These results supported the presumption that MVNT is a distinct histopathological entity.

Convexity dural chondroma: a case report with pathological and molecular analysis.

Chondromas are rare benign tumors that commonly originate from the base of the skull, while those arising from the dura mater are less common. Although the molecular mechanism underlying its pathogenesis remains largely unknown, 12q13-15 rearrangements followed by the activation of HMGA2, which is associated with cell proliferation, have been reported in soft tissue chondromas. A recent comprehensive analysis of mesenchymal tumors identified an IDH1/2 mutation in cartilaginous tumors. However, these alterations have not yet been examined in dural chondromas. We here described clinical and pathological features in a new case of convexity dural chondroma with the wildtype IDH1/2 and expression of HMGA2 and reviewed the relevant literature.

Clinicopathological and molecular features of malignant optic pathway glioma in an adult.

Malignant gliomas of the optic pathway are rare, and their genetic alterations are poorly understood. We describe a 64-year-old woman with anaplastic astrocytoma originating from the optic pathway, together with the molecular features. She presented with progressive visual field loss, and a biopsy sample was obtained from the lesion in the optic chiasm. She underwent radiosurgery concomitant with temozolomide chemotherapy, and subsequently remained stable for 10 months after initial presentation. Molecular analysis indicated that the mass may have shared common molecular genetic features with conventional primary astrocytic gliomas but not pilocytic gliomas, which supported the morphologic diagnosis of anaplastic astrocytoma. Molecular analysis of malignant optic pathway gliomas in adults is useful for distinguishing between high-grade gliomas and anaplastic pilocytic astrocytomas, and for determining further therapy.

[A case of glioblastoma multiforme in the pineal region with intraventricular hemorrhage].

INTRODUCTION: Glioblastoma multiforme (GBM) is a very rare type of tumor involving the pineal region. No case of pineal region GBM with tumoral hemorrhage has ever been reported. Here, we present the first such case report. CASE REPORT: A 65-year-old man presented with sudden-onset disturbance of consciousness. CT revealed intraventricular hemorrhage and acute hydrocephalus. The patient was treated by an emergent operation for ventricular drainage. MRI with contrast media showed a heterogeneous enhanced area in the pineal region. The patient underwent endoscopic biopsy surgery and a third ventriculostomy for non-communicating hydrocephalus. The pathological diagnosis was high-grade glioma, indicating the need for tumor removal via the occipital transtentorial approach. The tumor was removed subtotally and radiation and chemotherapy courses were then started. CONCLUSION: Pineal GBM with tumoral hemorrhage has never been reported before. Endoscopic operations are useful for rapid decision making prior to radical surgery.

Microscopic polyangiitis associated with diffuse panbronchiolitis.

There are several case reports of systemic vasculitis associated with chronic suppurative lung diseases. We describe a 46-year-old female, previously diagnosed as having diffuse panbronchiolitis (DPB), presenting with hemosputum and dyspnea. Her serum titer of MPO-ANCA was positive together with a high titer of BPI-ANCA. Chest X-ray and chest CT scan showed pulmonary hemorrhage, and the renal biopsy specimen revealed necrotizing, crescentic glomerulonephritis. She was diagnosed as having ANCA-associated vasculitis, and more specifically, microscopic polyangiitis accompanied by DPB. She was treated with methylprednisolone pulse therapy, followed by intravenous cyclophosphamide. This case suggested a possible association with chronic bacterial infection, which may play a role in the pathogenesis of ANCA-associated vasculitis.

[A case of sarcoidosis with rheumatic features (Löfgren's syndrome)].

Rheumatoid arthritis was diagnosed in a 30-year-old woman with erythema nodosum and arthritic symptoms since 1994, and she was treated with anti-rheumatic agents. Mediastinal and bilateral hilar lymphadenopathy and abnormal pulmonary shadows were detected in 1996, and she was admitted to our hospital in 1997. We also recognized the elevation of ACE and lysozyme, and found granulomas in a transbronchial lung biopsy and an arthrosis synovia biopsy. From these findings, sarcoidosis was diagnosed. Sarcoidosis demonstrating erythema nodosum, arthritis, and bilateral hilar lymphadenopathy is called Löfgren's syndrome. In Caucasians, Löfgren's syndrome is frequently encountered, but it is rare in Japanese. Our case had coexisting arthrosis symptoms, and satisfied the diagnosis criteria of rheumatic arthritis. Therefore, the differential diagnosis was important. We emphasize that it is necessary to consider Löfgren's syndrome when diagnosing patients with rheumatic features, even in Japan.

[Successful use of immunosuppressive agents for the treatment of progressive rheumatoid interstitial lung disease: a case report].

Interstitial pneumonia (IP) is sometimes a fatal complication of rheumatoid arthritis (RA). We describe a patient with progressive rheumatoid interstitial pneumonia, who responded to intravenous intermittent cyclophosphamide (IV-CY) and cyclosporine (CsA). A 62-year-old man with rheumatoid arthritis was admitted to this hospital because of dyspnea. Examinations on admission revealed that he had active RA with vasculitis and IP Initially, he responded to high-dose corticosteroid therapy. A lung biopsy performed after initial corticosteroid therapy revealed diffuse interstitial pneumonia with marked infiltrations of macrophages into the air spaces. On corticosteroid therapy with prednisolone 30 mg/day, the IP became exacerbated and was refractory to the current high-dose steroid treatment. He responded to intravenous cyclophosphamide, but his IP remained unstable. After CsA treatment was started, a clinical remission was obtained. In this case, CsA was the most effective agent tried. Clinical and pathological considerations led us to speculate that activated alveolar macrophages played a crucial role in the pathogenesis of steroid-resistant IP in this patient, and that the clinical remission induced by CsA may have been due to its inhibitory effect on alveolar macrophages.

[Adenocarcinoma of the lung with skeletal muscle metastasis, resulting in death due to myocardial metastasis: a case report].

A 57-year-old man was admitted to the hospital because of multiple subcutaneous masses with pain, mild dyspnea, and bloody sputum. He had been asymptomatic until one month earlier, when he began to have a dry cough and myalgia of the right forearm. A chest radiograph showed cardiomegaly. Whole-body computed tomographic scan, cytologic examination of the sputum, and histological examination of a subcutaneous nodule on the scalp resulted in the diagnosis of lung cancer with multiple organ metastases, including those to skeletal muscle and myocardium. Despite chemotherapy, he died suddenly on the 45th hospital day. Autopsy revealed that about half of the myocardium had been replaced by metastatic tumors, so we speculated that he died from heart failure due to cardiac muscle metastasis.

[Recurrence of thymoma accompanied with hypogammaglobulinemia 20 years after surgery: a case report].

We reported a case of recurrence of localized thymoma accompanied with hypogammaglobulinemia (Good's syndrome) 20 years after surgery. A 74-year-old man was admitted to this hospital because of mediastinal tumor and chronic pulmonary infection. He had been thymectomised at the age of 55 because of spindle cell thymoma. After that, he had been asymptomatic until January 1997, when he began to have a recurrent productive cough, and low-grade fever. Laboratory findings revealed hypogammaglobulinemia. Percutaneous needle biopsy of the mediastinal tumor revealed spindle cell thymoma. Therefore, hypogammaglobulinemia with thymoma (Good's syndrome) accompanied with a chronic lower respiratory tract infection was diagnosed. Immunologic studies revealed a marked decrease of CD 20 positive cells and decreased lymphocyte activation under the stimuli of phytohemagglutinin and concanavalin A. The thymoma was resected in Dec 1997, but the serum immunoglobulin showed no increase at al.