Association of Placental Mesenchymal Dysplasia With a Live Female Fetus and Complete Hydatidiform Mole: Report of a Challenging Case Confirmed by Molecular Genotyping Analysis.

Placental mesenchymal dysplasia (PMD) and complete hydatidiform mole (CHM) with a coexisting fetus are 2 rare placental abnormalities characterized by lacunar placenta and presence of an embryo on ultrasound examination. We report the case of a 34-yr-old woman referred at 32.6 weeks of gestation because of a multicystic placenta. A caesarean section was performed at 39.1 weeks of gestation giving birth to a 2905 g normal female infant. Pathological examination revealed macroscopic and microscopic morphological, and immunohistological features of PMD in the main placenta, and features of CHM in a separate placental mass. Fluorescent in situ hybridization and molecular genotyping analyses showed diandric diploidy in the CHM component and androgenetic/biparental mosaicism in the PMD component, confirming the association of PMD and CHM with a live infant. There was no progression to gestational trophoblastic neoplasia during follow-up for the mother, or any sign of Beckwith-Wiedemann syndrome or hepatic tumor in the child.

Prenatal diagnosis of anomalous connection of the inferior caval vein to the left atrium associated with common arterial trunk.

Anomalous connection of the inferior caval vein to the left atrium is exceedingly rare, and has even been considered by some authors an anatomic and embryologic impossibility. This study demonstrates for the first time the existence of this rare malformation, diagnosed on prenatal echo, and confirmed on post-mortem examination in a 24 WG fetus, in association with a common arterial trunk.

Coexistence of inflammatory hepatocellular adenomas with HNF1α-inactivated adenomas: is there an association?

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 HCAs were variable. In one case, the nodules of the two different subtypes were discovered at different times. In all women, HCAs 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.

[Second expert review on lymphoma: assessment of a one year activity in a general hospital]. / Expertise systématique des lymphomes diagnostiqués au cours d'une année d'activité d'un centre hospitalier : évaluation.

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 1'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.

[Request of second opinion for difficult diagnosis in surgical pathology. Assessment of a one year activity in a general hospital]. / Evaluation des demandes d'avis à un expert pour lésions de diagnostic difficile en anatomie et cytologie pathologiques. Analyse d'une année d'activité dans un service hospitalier.

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.

Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling.

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.

Prognostic Relevance of Histomolecular Classification of Diffuse Adult High-Grade Gliomas with Necrosis.

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.

[Solitary fibrous liver tumor: clinical, radiological and pathological characteristics]. / Tumeur fibreuse solitaire du foie: caractéristiques cliniques, radiologiques et anatomo-pathologiques.

A solitary fibrous liver tumor is a rare disease which is difficult to diagnose. Radiological findings are not specific, and cannot confirm benignity or malignancy. Treatment most often involves a major hepatic resection. A precise diagnosis is made by pathological examination, mainly immunohistochemistry with positive results for anti CD34 and anti vimentin antibodies. Prognosis is directly correlated to the presence of malignant histoprognostic features, i.e. the number of mitoses. We report a case of a benign solitary fibrous liver tumor, which presented as a voluminous hepatic mass with few symptoms and was treated successfully by radical hepatic resection.

[Keratoacanthoma of the anal margin]. / Kératoacanthome de la marge anale.

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.

[Keratoacanthoma: two cases with intravascular spread]. / Kératoacanthome: deux cas avec emboles vasculaires.

We report two patients with keratoacanthoma, simple in one and multiple in the other, displaying typical histological features except for intravascular spread. Although this spread points to malignancy, it did not allow to rule out the diagnosis of keratoacanthoma. These aggressive histological features, as well as perineural invasion, are not linked to malignant clinical course, according to the literature. Intravascular spread suggests that keratoancanthoma could be considered as a peculiar form of well differentiated squamous cell carcinoma. Comparison between clinical and pathological observations should lead to more specific diagnosis.