BACKGROUND:Clear cell ependymoma is one of the 4 main histological subtypes of ependymomas defined by the World Health Organization (WHO) classification of tumors of the CNS. DNA methylation profiling can distinguish 4 subgroups of intracranial ependymomas, including supratentorial (ST) ependymomas with Yes-associated protein 1 fusion (YAP1), ST ependymomas with fusion of v-rel avian reticuloendotheliosis viral oncogene homolog A (RELA), posterior fossa ependymomas with balanced genome, and posterior fossa ependymomas with chromosomal instability. In addition, trisomy 19 is a genomic hallmark of ependymomas with rich branching capillaries. However, the relation of histological and molecular subtypes is unclear. METHODS:Here, we report a series of 20 ependymomas histologically defined by clear cells and branching capillaries. RESULTS:We observed a strong male predominance. Median age at surgery was 10.4 years (range, 0.8-68.4). All cases were ST, cortical, contrast enhancing, and most often frontal, cystic, and calcified. All tumors qualified as WHO grade III. Some of them exhibited neuronal differentiation. Trisomy 19 was recorded in 13 cases. All samples strongly accumulated p65RelA protein within nuclei, indicating pathological activation of the nuclear factor-kappaB pathway. We identified causative C11ORF95-RELA fusion in almost all cases. Median progression-free survival and overall survival were 11.4 years (95% CI: 5.1-17.8) and not reached, respectively. CONCLUSION:ST clear cell ependymomas with branching capillaries display characteristic clinicopathological features and are associated with pathological activation of nuclear factor-kappaB signaling, which may indicate a potential novel target for therapy in these patients.

Diffuse adult high‐grade gliomas (HGGs) with necrosis encompass anaplastic oligodendrogliomas (AOs) with necrosis (grade III), glioblastomas (GBM, grade IV) and glioblastomas with an oligodendroglial component (GBMO, grade IV). Here, we aimed to search for prognostic relevance of histological classification and molecular alterations of these tumors. About 210 patients were included (63 AO, 56 GBM and 91 GBMO). GBMO group was split into “anaplastic oligoastrocytoma (AOA) with necrosis grade IV/GBMO,” restricted to tumors showing intermingled astrocytic and oligodendroglial component, and “GBM/GBMO” based on tumors presenting oligodendroglial foci and features of GBM. Genomic arrays, IDH1 R132H expression analyses and IDH direct sequencing were performed. 1p/19q co‐deletion characterized AO, whereas no IDH1 R132H expression and intact 1p/19q characterized both GBM and GBM/GBMO. AOA with necrosis/GBMO mainly demonstrated IDH1 R132H expression and intact 1p/19q. Other IDH1 or IDH2 mutations were extremely rare. Both histological and molecular classifications were predictive of progression free survival (PFS) and overall survival (OS) (P < 10−4). Diffuse adult HGGs with necrosis can be split into three histomolecular groups of prognostic relevance: 1p/19q co‐deleted AO, IDH1 R132H‐GBM and 1p/19q intact IDH1 R132H+ gliomas that might be classified as IDH1 R132H+ GBM. Because of histomolecular heterogeneity, we suggest to remove the name GBMO.

Aims To report the coexistence of inflammatory hepatocellular adenoma (IHCA) and HNF1α‐inactivated HCA ( H ‐ HCA ) in cases from a multicentre study. Methods and results We report nine cases with the coexistence of IHCA and H ‐ HCA ; eight occurred in women, and one in a man. The numbers of nodules and the sizes of the largest and smallest HCA s were variable. In one case, the nodules of the two different subtypes were discovered at different times. In all women, HCA s were histologically typical, regardless of their subtype, whereas H ‐ HCA in the man differed histologically from classic H‐ HCA . Conclusions These cases suggest that a predisposition to develop multiple adenomas, hypothetically caused by a ‘benign tumorigenic field effect’, although common to all HCAs, may result in different genotypes and phenotypes. Although this is rare, it is expected that more cases with the coexistence of different genotypes will emerge, owing to progress in the use of specific immunohistochemical approaches.

Une relecture systématique des lymphomes (LM) a été mise en place par l’INCa en 2010. Nous avons voulu mesurer l’impact de cette mesure entre un service d’anatomie et de cytologie pathologiques hospitalier régional non universitaire (lecteur 1) et un médecin expert (lecteur 2). Il s’agit d’une étude prospective réalisée sur une année entre le 01/04/2010 et le 01/04/2011. Nous avons analysé 54 cas selon les recommandations « lymphopath » et comparé les diagnostics des lecteurs 1 et 2 selon la classification OMS 2008. Nous avons défini les erreurs graves (LM versus une autre pathologie) et les divergences de classification avec ou sans changement de protocole thérapeutique. Nous avons déterminé les délais entre la réception initiale du prélèvement et le compte rendu du L1 (délai A) puis du compte rendu du L2 (délai B). Les examens complémentaires supplémentaires effectués par le L2 ont été recensés. Nous avons noté un cas de divergence de classification (1,85 % des cas). Le délai A moyen était de sept jours et le délai B moyen de 20jours. Une étude immuno-histochimique complémentaire a été demandée par L2 pour 11 cas (20,4 %). À l’issue de cette étude, une demande de second avis ciblée pour les diagnostics difficiles, les lymphomes rares ou lorsque des examens complémentaires sont nécessaires nous paraît une solution plus pertinente pour notre service qu’une double lecture systématique.

A standardized second histological review for lymphomas was established by the French National Cancer Institute in 2010. The objective of our study was to assess the clinical impact of this process between a general hospital (reader 1) and an expert (reader 2). This prospective study was conducted between April 1st 2010 and April 1st 2011. Fifty-four cases of lymphoma were subjected to an expert review following the "LYMPHOPATH" recommendations and diagnoses of readers 1 and 2 were compared according to the WHO 2008 classification of lymphomas. We distinguished serious discrepancies (lymphoma versus other malignancy) from subtyping disagreement with or without impact on therapeutic strategy. We also determined the delays between the initial reception of the sample and reader l's (period A) and reader 2's (period B) reports, respectively. Any additional analysis performed by second reader was also reported. Our study revealed one case of subtyping discordance (1.85%). The mean delays were 7 days for period A and 20 days for period B, respectively. Additional immunohistochemical techniques were requested by reader 2 in 11 cases (20.4%). These data provide evidence to suggest that in our department, a second review targeted on difficult diagnoses, rare lymphomas or when further analyses are required would be more relevant than a standardized second review. (C) 2012 Elsevier Masson SAS. All rights reserved.

A lors que la responsabilite du virus de l'hepatite B (VHB) dans la survenue d'une periarferite noueuse est classiquement admise, l'association causale entre le virus de l'hepatite C (VHC) et la periarteritenoueuse reste controversee. Nous decrivons un cas de cirrhose virale C decouverte a l'occasion d'une ischemie aigue de l'intestin grele liee a une periarterite noueuse.

La coqueluche continue de provoquer une maladie grave et des décès chez les nouveau-nés et les nourrissons trop jeunes. La technique de PCR est de plus en plus utilisée comme test de diagnostic direct pour le diagnostic de la Coqueluche, la connaissance des performances de la méthode analytique utilisée au laboratoire est essentielle pour vérifier la fiabilité des résultats. L’objectif de cette étude est de vérifier les performances de la technique de PCR-RT multiplex, utilisée au laboratoire pour le diagnostic de la coqueluche, en déterminant sa sensibilité, sa spécificité, sa valeur prédictive positive et négative.Un total de 12 bactéries non-Bordetella a été inclus dans l’étude de la spécificité. Onze échantillons sont positifs pour les 3 espèces : Bordetella pertussis, Bordetella parapertussis et Bordetella holmesii ont été inclus dans l’étude de la sensibilité. La recherche de l’ADN des 3 espèces est réalisée par PCR-RT multiplex.La sensibilité de la PCR est de 100 %, la spécificité de la PCR est de 100 %. La valeur prédictive négative et la valeur prédictive positive sont de 100 %. Une PCR en temps réel ciblant B. pertussis, B. parapertussis et B. holmesii s’est avérée spécifique et utile pour confirmer la présence de la séquence d’insertion 481, IS1001 et hIS1001.On conclut que les performances de la technique de PCR-RT répondent aux exigences du laboratoire des maladies épidémiques pour le diagnostic de la coqueluche.Pertussis continues to cause serious illness and death in newborns and infants who are too young. The PCR technique is increasingly used as a direct diagnostic test for the diagnosis of Pertussis, knowledge of the performance of the analytical method used in the laboratory is essential to verify the reliability of the results. The objective of this study is to verify the performance of the PCR-RT multiplex technique, used in the laboratory for the diagnosis of pertussis, by determining its sensitivity, its specificity, its positive and negative predictive value.A total of 12 non-Bordetella bacteria were included in the specificity study. Eleven samples are positive for the 3 species: Bordetella pertussis, Bordetella parapertussis and Bordetella holmesii were included in the sensitivity study. The DNA research of the 3 species is carried out by multiplex PCR-RT.The sensitivity of the PCR is 100%, the specificity of the PCR is 100%. The negative predictive value and the positive predictive value are 100%. A real-time PCR targeting B. pertussis, B. parapertussis and B. holmesii was found to be specific and useful for confirming the presence of the insertion sequence 481, IS1001 and hIS1001.It is concluded that the performance of the PCR-RT technique meets the requirements of the epidemic disease laboratory for the diagnosis of pertussis.

OBJECTIVE The objective of this study was to evaluate our practices concerning difficult lesions sent for second opinion to an expert. MATERIAL AND METHODS We analyzed retrospectively all the requests for second opinion carried out over one year in our laboratory. The following data were indexed: organ, pathology (tumoral or not), type of sampling, the time, additional techniques carried out by the expert and comparison of the initial diagnosis with that of the expert. A provisional report was systematically performed before sending the observation to the expert. RESULTS Among the 54 cases, 40 lesions were tumoral and 31 malignant. The type of pathology which were more often sent for opinion were lymphomas (18.5%) and soft tissue tumors (11%). The average time between reception of the sampling in our laboratory and the answer of the expert was 32.8 days. In 40.7% of the cases, additional techniques like immunohistochemistry (19 cases) or molecular biology (7 cases) were carried out by the expert and concerned especially lymphomas or soft tissue pathology. The comparison of the initial diagnosis with that of the expert showed no change in 53.7% of cases, 13% of divergence from benign-malignant (6 cases) or malignant-benign (1 case) type, 16.7% of changes of classification without modification of the benignity or the malignity, and 16.7% of difficult interpretation. CONCLUSION This study seems to be a good means of evaluating our professional practices related to difficult lesions and confirms the importance of deep-freezing tumors, holding multidisciplinary meetings and participating in specialized working groups.

We report the case of a keratoacanthoma of the anal margin in a 34 year-old man. Initial biopsies were negative. Diagnosis was made by histological examination of the surgical specimen. Nine cases of perianal keratoacanthoma have been previously reported in the literature. Our case is remarkable because of the young age of the patient. We discuss the differential diagnosis of anal keratoacanthoma that must be distinguished from well-differentiated squamous cell carcinoma.