Endoscopic mucosal resection of non-ampullary sporadic duodenal adenomas: a retrospective analysis with long-term follow-up

Objective: We investigate the efficiency of endoscopic mucosal resection (EMR) of non-ampullary sporadic duodenal adenomas (NASDA) in a retrospective analysis with long-term follow-up.

Methods: Consecutive patients undergoing EMR of NASDA between May 2002 and December 2016 were retrospectively identified from an electronic database. Endoscopic follow-up was scheduled after 3, 6 and 12 months for the first year, then yearly for up to five years.

Results: EMR of 75 NASDA was performed in 68 patients (56% en-bloc, 44% piecemeal). Retroperitoneal perforations occurred in 3/68 (4.4%) patients, were treated by surgical (n?=?2) or percutaneous (n?=?1) drainage; delayed bleeding was reported in 13/75 (17.3%) resections and was successfully managed by endoscopy (n?=?12) or radiologic embolization (n?=?1). There was no procedure-related mortality. Follow-up was available in 61/68 patients (89.7%) after a median time of 59 months from resection. Residual and recurrent adenoma were diagnosed in 9 (14.5%) and 6 (10.9%) cases, respectively; all but one were successfully retreated endoscopically.

Conclusions: EMR for NASDA is effective with a favorable long-term outcome. Local recurrences can be retreated endoscopically. A recall system, patient’s compliance to endoscopic follow-up are mandatory to detect recurrences and their prompt treatment.     

Spatial Properties of Mismatch Negativity in Patients with Disorders of Consciousness

In recent decades, event-related potentials have been used for the clinical electrophysiological assessment of patients with disorders of consciousness (DOCs). In this paper, an oddball paradigm with two types of frequency-deviant stimulus (standard stimuli were pure tones of 1000 Hz; small deviant stimuli were pure tones of 1050 Hz; large deviant stimuli were pure tones of 1200 Hz) was applied to elicit mismatch negativity (MMN) in 30 patients with DOCs diagnosed using the JFK Coma Recovery Scale-Revised (CRS-R). The results showed that the peak amplitudes of MMN elicited by both large and small deviant stimuli were significantly different from baseline. In terms of the spatial properties of MMN, a significant interaction effect between conditions (small and large deviant stimuli) and electrode nodes was centered at the frontocentral area. Furthermore, correlation coefficients were calculated between MMN amplitudes and CRS-R scores for each electrode among all participants to generate topographic maps. Meanwhile, a significant negative correlation between the MMN amplitudes elicited by large deviant stimuli and the CRS-R scores was also found at the frontocentral area. In consequence, our results combine the above spatial properties of MMN in patients with DOCs, and provide a more precise location (frontocentral area) at which to evaluate the correlation between clinical electrophysiological assessment and the level of consciousness.     

Novel case of recurrent intraventricular atypical central neurocytoma with prominent gangliogliomatous differentiation in a 10‐year‐old boy with 10 years of follow up

Central neurocytoma is a rare neuronal tumor that typically occurs in young adults. Infrequently, these tumors exhibit advanced neuronal maturation and glial differentiation, giving rise to a histologically diverse tumor, in contrast to a typical central neurocytoma. We present a novel case of intraventricular central neurocytoma with prominent gangliogliomatous differentiation that developed atypical features upon recurrence after 10 years of follow up in a 10‐year‐old boy. Our case provides insight into the divergent differentiation capability of a neurocytic tumor and illustrates the diverse histological features of this rare entity.     

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

Melanoma is an aggressive type of skin cancer. Each year more than 250,000 new cases are diagnosed worldwide. If diagnosed at early stages, melanoma can be cured with relatively simple surgery. Globally, 20% of melanoma patients will die, but when diagnosed with thick (more advanced / later stage) tumours, the probability of dying increases by up to 60%. The best strategy to improve survival is with early diagnosis. The identification of people at risk is essential. Around 10% of cases occur in a familial context. This means that these individuals have an inherited genetic risk of developing melanoma explained by the presence of alterations (mutations) in specific genes. In a family with known mutation, healthy individuals who carry the mutation can be included in early detection programs that allow the diagnosis of melanomas at early stages. But the gene/genes responsible for this risk is still unknown in more than 70% of families. This study, from Spain, aimed to evaluate the prevalence of mutations in two genes (POT1 and TERT) in Spanish melanoma-prone families without known mutated genes. The authors sequenced (a way of studying) both genes in cases from 228 families. They found mutations in nearly 2% of the families assessed. They additionally identified two patients in two families who also had thyroid malignances. If this is confirmed in additional studies, the melanoma-prone families with mutations in this gene will also benefit from early diagnosis of thyroid tumours. No mutations were identified in TERT promoter indicating that this gene does not play an important role in familial melanoma susceptibility in Spain.     

First description of cervical intradural thymoma metastasis

Thymoma and thymic carcinoma are rare epithelial tumors, which originate from the thymus gland. According to the World Health Organization there are "organotypic"(types A, AB, B1, B2, and B3) and "non-organotypic"(thymic carcinomas) thymomas. Type B3 thymomas are aggressive tumors, which can metastasize. Due to the rarity of these lesions, only 7 cases of extradural metastasis are described in the literature. We report the first and unique case of a man with cervical intradural B3 thymoma metastasis. A 46-year-old man underwent thymoma surgical removal. The year after the procedure he was treated for a parietal pleura metastasis. In 2006 he underwent cervical-dorsal extradural metastasis removal and C5-Th1 stabilization. Seven years after he came to our observation complaining left cervicobrachialgia and a reduction of strength of the left arm. He underwent a cervical spine magnetic resonance imaging, which showed a new lesion at the C5-C7 level. The patient underwent a surgery for the intradural B3 thymoma metastasis. Neurological symptoms improved although the removal was subtotal. He went through postoperative radiation therapy with further mass reduction. Spinal metastases are extremely rare. To date, only 7 cases of spinal extradural metastasis have been described in the literature. This is the first case of spinal intradural metastasis. Early individuation of these tumors and surgical treatment improve neurological outcome in patients with spinal cord compression. A multimodal treatment including neoadjuvant chemotherapy, surgery and postoperative radiation therapy seems to improve survival in patients with metastatic thymoma.     

Evidences that the polymorphism Pro-282-Ala within the tumor suppressor gene WWOX is a new risk factor for differentiated thyroid carcinoma

We report a hypothesis-driven study aimed to detect genetic markers of susceptibility to differentiated thyroid carcinomas (DTC). A large number of candidate genes were first selected through literature search (genome-wide studies were also included). To restrict the analysis to single nucleotide polymorphisms (SNPs) with a high likelihood to be associated with increased risk, each SNP must comply with several a priori hypotheses. Only one SNP, the rs3764340 encoding for the aminoacidic substitution proline-to-alanine at codon 282 of the tumor suppressor gene WWOX, passed the selection. A case-control association study was carried out, involving a total of 1,741 cases and 1,042 controls. The logistic regression analysis revealed an increased risk of DTC for the carriers of the G-allele (crude odds ratio, OR = 1.53; 95% confidence interval, CI = 1.18-1.99; p = 1.38 × 10(-3) ). When we controlled for covariates, the adjusted OR was 1.48 with a 95% CI of 1.08-2.03 (p = 8.0 × 10(-3) ). The association was confirmed after stratification for histology (for papillary thyroid carcinoma the adjusted OR was 1.43; 95% CI 1.02-2.00; p = 0.037), incident cases and smokers, but was also at the limit of statistical significance in all the other categories considered. In silico analyses showed that when alanine substitutes proline, subtle changes of the proteic structure can be predicted. These findings together with other observations from literature on human cancers and the fact that the proline at codon 282 is extremely conserved in phylogenetically distant organisms (including Drosophila) suggest that the variant allele-282 could affect the biological function of WWOX, thereby predisposing individuals to thyroid cancer.     

One protein to rule them all: modulation of cell surface receptors and molecules by HIV Nef

The HIV-1, HIV-2 and SIV Nef protein are known to modulate the expression of several cell surface receptors and molecules to escape the immune system, to alter T cell activation, to enhance viral replication, infectivity and transmission and overall to ensure the optimal environment for infection outcome. Consistent and continuous efforts have been made over the years to characterize the modulation of expression of each of these molecules, in the hope that a better understanding of these processes essential for HIV infection and/or pathogenesis will eventually highlight new therapeutic targets. In this article we provide an extensive review of the knowledge gained so far on this important and evolving topic.