Esthesioneuroblastoma: a Danish clinicopathological study of 40 consecutive cases

Aims. To review all cases of esthesioneuroblastoma in Denmark from 1978 to 2000 with respect to staging, grading, histopathological and immunohistochemical evaluation, and prognostication. Methods and results. Possible cases of esthesioneuroblastoma were retrieved from Danish oncology departments. Patients were included on the basis of review of their files or pathology reports, and/or on the basis of histopathological and immunohistochemical examination. Forty-nine possible cases were retrieved. Nine cases were excluded. Esthesioneuroblastoma is a malignant neuroendocrine tumour originating in the olfactory mucosa. It is a small blue cell neoplasm with a characteristic lobular architecture. It has a neuroendocrine immunophenotype and a sustentacular S-100 staining pattern. The tumours were staged according to Kadish and graded according to Hyams. Kaplan-Meier survival analysis was used to identify prognostic factors. Conclusion. The Kadish staging system was able to group the patients into prognostically relevant groups. Intracranial involvement and metastases at the time of diagnosis were found to be poor prognostic factors. Hyams grading system is difficult to work with and it was not possible to divide patients into prognostically relevant groups. Presence of necrosis, a diffuse growth pattern and a high proliferation index proved to be equally poor prognostic factors.     

Monosomy 1p36.31–33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis

A rare monosomy 1p36.31–33→pter was found in a child with physical anomalies, psycho-motor retardation, and seizures. Cytogenetic investigation suggested an unbalanced translocation between 1p and an acrocentric chromosome, but the rearrangement was difficult to assess accurately using conventional chromosome banding techniques. The half-cryptic translocation was further characterized using fluorescence in situ hybridization, and the aberrant chromosome 1 was shown to be a derivate of a paternal reciprocal translocation t(1;15)(p36.31–33;p11.2–12). The breakpoints on chromosome 1 and 15 were defined in detail using locus specific probes. The rearrangement did not include the region on chromosome 1p which previously has been suggested to predispose to the development of neuroblastoma in a case with a constitutional translocation. At 3 6/12 years, the patient has no clinical signs of this disease, which illustrates the prognostic significance of this investigation. © 1996 Wiley-Liss, Inc.     

Rapid on‐site evaluation of EUS–FNA by cytopathologist: An experience of a tertiary hospital

Endoscopic ultrasound‐guided–fine‐needle aspiration (EUS–FNA) is the preferred modality nowadays for the cytological diagnosis of various mediastinal and gastrointestinal lesions. Onsite cytopathology interpretation is not available in most centers. The objective of this study is to assess whether rapid on‐site evaluation (ROSE) by cytopathologist of the tissue samples improves the diagnostic accuracy of EUS–FNA. This study is a retrospective review of all 646 patients undergoing EUS–FNA between January 2009 and October 2012 in our hospital. Patients in group I had cytology slides prepared by an endoscopy nurse. Patients in group II had cytology slides prepared, stained and assessed for adequacy of tissue sampling by a cytopathologist onsite. The adequacy of the samples and the final cytopathological diagnosis (definitely positive, definitely negative, inconclusive, or inadequate) was compared between the two groups. A total of 425 EUS–FNA procedures were performed in 375 patients in group I and 271 EUS–FNA procedures in 271 patients in group II. The mean of needle passes in group I was 3.12 passes per patient and 3.24 passes in group II. The difference in the number of needle passes was not statistically significant (P = 0.30). The final diagnosis was definite in 64.8% in group I compared with 97.7 % in group II (P = 0.001). The percentage of inconclusive and inadequate diagnoses was 5.6% and 29.3%, respectively in group I and 0% and 2.3% in group II (P = 0.001). In conclusion, ROSE by cytopathologist and interpretation significantly improves the diagnostic yield of EUS–FNA. Diagn. Cytopathol. 2013;41:1075–1080. © 2013 Wiley Periodicals, Inc.     

The value of intramural vascular invasion in colorectal cancer – a systematic review and meta‐analysis

Extramural venous invasion (EMVI) is a well‐known prognostic factor in colorectal cancer (CRC). Vascular invasion within the bowel wall, intramural vascular invasion (IMVI), has received less attention and its incidence and prognostic importance in CRC is not completely known. A systematic literature search was performed focusing on the impact of IMVI in CRC. Data were analysed using Review Manager version 5.3 on incidence and clinical endpoints local recurrence, 5‐year cancer‐specific survival (CSS) and 5‐year overall survival (OS). Meta‐analysis was performed in terms of risk ratios (RR) and hazard ratios (HR) with 95% confidence interval (95% CI). Of the initial 1199 papers identified by our search strategy, 20 were included in this meta‐analysis. Of the 8078 included patients, 1008 patients had IMVI (12.5%). Studies that re‐examined histological slides showed a higher incidence of IMVI compared to studies extracting IMVI from pathology reports (17.6 versus 7.7%, P < 0.001). Detection of IMVI increased significantly with the use of additional staining (22.9 versus 12.3%, P < 0.001). IMVI was associated with a decreased CSS HR: 1.6, 95% CI 1.2–2.2 in multivariate analysis). A borderline significant effect was observed for IMVI on local recurrence (RR: 1.5, 95% CI: 0.98–2.3) and OS (RR: 1.2, 95% CI: 1.0–1.4). In conclusion, despite the limited number of studies, there is a clear association with outcome in the presence of IMVI. This warrants more attention to this under‐reported prognostic factor.     

Cerebrospinal fluid γδ T cell frequency is age‐related: a case–control study of 435 children with inflammatory and non‐inflammatory neurological disorders

Studies of cerebrospinal fluid (CSF) γδ T cells in children are limited, due especially to the lack of control data. In adults, gamma/delta T cells (TCR‐γδ) residing in the intrathecal space are sometimes involved in neuroinflammation. To evaluate the possible role of γδ T cells in paediatric neuroinflammation, we immunophenotyped cerebrospinal fluid (CSF) and blood lymphocytes using flow cytometry in a case–control study of 100 children with non‐inflammatory neurological disorders (NIND), 312 with opsoclonus–myoclonus (OMS) and 23 with other inflammatory neurological disorders (OIND). In NIND, the negative correlation between CSF γδ T cell frequency and patient age was striking: median frequency of 27% in infants and 3·3% in teens. Interindividual variations were largest in the youngest. There was no gender effect. In all OMS, after correcting for age, only a small effect of OMS severity remained. Measurement of markers for γδ T cell activation [human leucocyte antigen D‐related (HLA‐DR)], maturation (CD45RA, CD45RO) or intracellular cytokine staining [interleukin (IL)‐4, interferon (IFN)‐γ] failed to discriminate OMS and NIND groups. Of seven OMS immunotherapies/combinations, none altered the frequency of total CSF γδ T cells or subsets significantly. In OIND, the CSF γδ T cell frequency was < 10% for single samples of other paraneoplastic disorders [anti‐neuronal nuclear antibody (ANNA)‐1, PCA‐1, teratoma‐associated syndrome], cerebellar ataxia (post‐infectious, ataxia‐telangiectasia), acute disseminated encephalomyelitis, neuroborreliosis and encephalitis. This study provides new insights into CSF γδ T cells in the paediatric population. Although their role in CSF remains elusive, the negative age correlation, resistance to immunotherapy and our age cut‐off references for NIND are important findings for the design of future paediatric studies.     

Change in bacterial aetiology of peritoneal dialysis-related peritonitis over 10 years: experience from a centre in south-east Asia

This study reviewed 1787 episodes of peritoneal dialysis (PD)-related peritonitis in 544 patients between 1994 and 2003. The overall rate of peritonitis was 0.68 episodes/year of PD, but decreased from 1.10 to 0.46 episodes/year between 1994 and 2003. The incidence of peritonitis caused by coagulase-negative staphylococci declined between 1994 and 1998 from 0.21 to 0.06 episodes/year of PD, coinciding with a reduction in the use of spike PD sets. There was a 60.1% response rate to antibiotics throughout the period, but the percentage of cases that required modification of the initial empirical antibiotic regimen rose from 13.6% to 58.7%, indicating that treatment should be individualised.     

Influenza A virus in Taiwan, 1980–2006: Phylogenetic and antigenic characteristics of the hemagglutinin gene

Limited amount of information is available in Taiwan on the genetic or antigenic characteristics of influenza A virus prior to the establishment of a Taiwan surveillance network in 2000. Isolates of H1N1 and H3N2 viruses in Taiwan between 1980 and 2006 were studied, and part of the hemagglutinin gene was analyzed due to its importance in terms of viral infection and antibody neutralization. Results from a phylogenetic analysis indicate continuous evolutionary topology in H3N2 isolates, and two distinct H1N1 lineages. Many genetic relationships between vaccine strains and epidemic isolates appearing in Taiwan before other global locations were also observed and recorded in addition to a gradual increase in the number of N‐linked glycosylation sites on partial HA1 proteins since 1980. The results from pairwise comparisons of HA1 nucleotide and deduced amino acid sequences indicate shared identities within groups organized according to their bootstrap and P‐values of approximately 95.5–100% and 95.7–100% in H1N1 and 94.5–100% and 93.2–100% in H3N2 viruses, respectively. Comparisons of amino acid substitutions in the five antigenic regions reveal highly non‐synonymous changes occurring in the Sb region of H1N1 and in the B region of H3N2. The results of an antigenic analysis using a hemagglutinin inhibition (HI) test indicate the presence of some epidemic strains 1–2 years earlier in Taiwan than in other parts of the world, as well as higher vaccine mismatch rates. This information supports the need for continuous surveillance of emerging influenza viruses in Taiwan, which will be useful for making global vaccine decisions. J. Med. Virol. 81:1457–1470, 2009. © 2009 Wiley‐Liss, Inc.     

The practice of adult genetics: A 7‐year experience from a single center

The purpose of our study is to familiarize the reader with genetic disorders commonly seen in adults and identify challenges and barriers that limit provision of services. We conducted a retrospective chart analysis of patients seen in the adult Genetics clinics from January 2004 to December 2010 in a metropolitan medical center consisting of an academic private clinic and a county hospital clinic. During the study period, a total of 1,552 patients (n = 1,108 private clinic patients; n = 444 county clinic patients) were evaluated and managed. Of these, 790 and 280 were new patient visits at the private clinic and county clinic, respectively. Approximately 35% (374/1,070) of new patients were seen for cancer‐related indications, while neurological indications accounted for approximately 14% (153/1,070) in both clinics. Cardiology‐related indications accounted for approximately 13% (145/1,070) of patients, followed closely by chromosomal and syndromic indications for which almost 9% (96/1,070) of new patients were seen. Approximately 8% (90/1,070) of new patients were seen for musculoskeletal indications. We saw increased clinic growth during the study period and found that the most common indications for referral are: (1) Personal/family history of cancer (2) neurological (3) cardiovascular (CV) (4) chromosomal/syndromic and (5) musculoskeletal. A number of challenges were identified, including coordination of services, feasibility of testing, and an overall higher complexity of care with increased clinic scheduling time requirements. Through this review, we demonstrate the demand for adult genetics services and propose some guidelines to address the challenges of management in the adult genetics patient population. © 2012 Wiley Periodicals, Inc.