Frequent detection of human polyomavirus 6 in keratoacanthomas

BACKGROUND: The recent discovery of the Merkel cell polyomavirus and its consistent association with Merkel cell carcinoma has drawn attention to the numerous recently discovered polyomaviruses and their possible involvement in the etiopathogenesis of non-melanoma skin cancer (NMSC). Data on the recently discovered human polyomavirus 6 (HPyV6) and its role in NMSC are sparse and in part controversial. METHODS: In the present study we tested a large number (n = 299) of NMSC specimens for the presence of human polyomavirus 6 (HPyV6) by DNA PCR and HPyV6 fluorescence in situ hybridization (FISH). In detail, 59 keratoacanthomas (KA), 109 basal cell carcinomas (BCC), 86 squamous cell carcinomas (SCC) and 45 trichoblastomas (TB) were tested for the presence of HPyV6. RESULTS: HPyV6 DNA PCR and subsequent sequence analysis revealed that 25 KAs (42.3 %), 23 BCCs (21.1 %), 8 SCCs (9.3 %) and 10 TBs (22.2 %) were HPyV6 positive. The presence of HPyV6 DNA was visualized and validated on the single cell level within the histomorphological context by HPyV6 fluorescence in situ hybridization. CONCLUSIONS: The high frequency of HPyV6 DNA in 42.3 % of KA possibly points to a role for HPyV6 in the etiopathogenesis of KAs. Although the detection rate of HPyV6 DNA in BCCs and TBs is within the previously reported detection range in normal skin, it does not exclude a possible role for HPyV6 in the carcinogenesis in a significant subset of these skin tumors

Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue

Background and Objective Patients with presumed nonlesional focal epilepsy - based on either MRI or histopathologic findings - have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had no lesion on histopathology. Determinants of their postoperative seizure outcomes were further studied. Methods We designed an observational multicenter cohort study of MRI-negative and histopathology-negative patients who were derived from the European Epilepsy Brain Bank and underwent epilepsy surgery between 2000 and 2012 in 34 epilepsy surgery centers within Europe. We collected data on clinical characteristics, presurgical assessment, including genetic testing, surgery characteristics, postoperative outcome, and treatment regimen. Results Of the 217 included patients, 40% were seizure-free (Engel I) 2 years after surgery and one-third of patients remained seizure-free after 5 years. Temporal lobe surgery (adjusted odds ratio [AOR]: 2.62; 95% CI 1.19-5.76), shorter epilepsy duration (AOR for duration: 0.94; 95% CI 0.89-0.99), and completely normal histopathologic findings - versus nonspecific reactive gliosis - (AOR: 4.69; 95% CI 1.79-11.27) were significantly associated with favorable seizure outcome at 2 years after surgery. Of patients who underwent invasive monitoring, only 35% reached seizure freedom at 2 years. Patients with parietal lobe resections had lowest seizure freedom rates (12.5%). Among temporal lobe surgery patients, there was a trend toward favorable outcome if hippocampectomy was part of the resection strategy (OR: 2.94; 95% CI 0.98-8.80). Genetic testing was only sporadically performed. Discussion This study shows that seizure freedom can be reached in 40% of nonlesional patients with both normal MRI and histopathology findings. In particular, nonlesional temporal lobe epilepsy should be regarded as a relatively favorable group, with almost half of patients achieving seizure freedom at 2 years after surgery - even more if the hippocampus is resected - compared with only 1 in 5 nonlesional patients who underwent extratemporal surgery. Patients with an electroclinically identified focus, who are nonlesional, will be a promising group for advanced molecular-genetic analysis of brain tissue specimens to identify new brain somatic epilepsy genes or epilepsy-associated molecular pathways

Long-term drug-resistant temporal lobe epilepsy associated with a mixed ganglioglioma and dysembryoplastic neuroepithelial tumor in an elderly patient

BACKGROUND: Mixed ganglioglioma and dysembryoplastic neuroepithelial tumor (DNET) is an extremely rare neuropathological diagnosis. The sparse number of patients described are children or young adults with long-term drug-resistant epilepsy. CASE DESCRIPTION: We report on a rare case of this tumor in a 61-year-old patient with an epilepsy duration of almost 60 years. This patient received an epilepsy surgery work-up with the intention to cure his drug-resistant epilepsy by performing a complete lesionectomy. The available literature on these mixed tumors is reviewed. CONCLUSION: A contrast-enhancing mixed ganglioglioma and DNET can mimic a malignant tumor and appears not only in children and young adults, but also in the elderly patients with chronic epilepsy. A long-lasting epilepsy, in this case almost 60 years, can be completely cured by a complete lesionectomy

Primary bone destruction and extracranial metastases in an atypical glioblastoma with sarcomatoid features

A man in his early 40s was referred to the neurology department with headache, hemianopsia and a palpable fluctuating mass on the back of his head. Investigations revealed a right-sided parieto-occipital mass with involvement of dura, bone and subcutaneous tissue. After debulking, pathological examination revealed a primary high-grade glioma with sarcomatoid features and a small-cell component. Concurrent chemoradiation was initiated. 10 weeks postoperatively, symptomatic bone metastases were diagnosed. During the clinical course, local and systemic treatment was consecutively administered, in order to control both primary tumour site and metastatic lesions. Due to progression of both intracranial and extracranial tumour load treatment was eventually discontinued; the patient passed away 28 months after initial presentation. The combination of a high-grade glioma with local destruction of the skull and subsequent metastasis is extremely rare and, when these features do occur, warrant a tailored approach to control both intracranial and extracranial tumour load

The Absence of the Neuronal Component in Limited Dorsal Myeloschisis:A Case Report

INTRODUCTION: The presence of neuroglial tissue is considered a hallmark in limited dorsal myeloschisis (LDM). However, several reports have indicated that the presence of neuroglial tissue in LDM cannot always be demonstrated. Here, we present such a case of LDM and provide an alternative hypothesis for lacking the neuronal component. CASE DESCRIPTION: An antenatal LDM suspected neonate was born with a cystic skin lesion and membranous sac typical for membranous LDM. Three days postpartum the otherwise healthy infant underwent surgery, during which the stalk was resected and the spinal cord was untethered. Histopathologically, no neuroglial tissue could be determined. Noteworthy, S-100 staining revealed numerous peripheral nerves. DISCUSSION: The current paradigm explains the absence of neuroglial tissue in resected stalks of LDM by indicating that it should be present in the unresected part, more proximal to the dorsal spinal cord. We hypothesize a different mechanism in which following reopening of the neural tube, mesodermal invasion causes a tight and persistent strand between the cutaneous- and neuroectoderm. Elongation of this mesodermal strand during embryological development allows for the formation of a mesenchymal stalk without the presence of neuroglial tissue. Hydrodynamic forces can cause fistulation of the poorly differentiated mesodermal tissue and subsequently lead to a saccular defect