Wegener's Granulomatosis: A Rare Cause of Hydronephrosis

A seventy-one-year-old woman was hospitalized at our institution for a right-sided “renal colic” associated with an infectious background. Alithiasic ureterohydronephrosis was diagnosed by imaging. A urinary diversion was thus performed using a double J endoureteral stent. The etiologic assessment of the hydronephrosis showed the presence of a periureteral mass that caused extrinsic ureteral compression. After surgical excision of the ureteral lesion, the Wegener's granulomatosis diagnosis was established. This report is the clinical description of a case of “atypical” Wegener's granulomatosis revealed by the onset of a ureteral disease mimicking a neoplastic process

A Painful Inflammatory Lesion on the Dorsum of the Hand of a Patient With Rheumatoid Arthritis Treated With Methotrexate

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[Pemphigoid nodularis]

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BRAF mutation screening in melanoma

International audienceAs the detection of the BRAF V600E mutation has a direct impact on treatment decision, an accurate screening for BRAF mutations in patients with advanced or metastatic melanoma is mandatory. Nevertheless, BRAF oncogene mutation status between different samples from the same patient has been studied with conflicting results. This study investigated the intrapatient homogeneity of BRAF mutation status using pyrosequencing in primary tumors and different metastatic sites of melanoma patients. Paired samples of lymphatic, visceral, and subcutaneous metastases and primary melanoma from 45 metastatic melanoma patients were tested for BRAF mutations using a pyrosequencing assay and by Sanger sequencing. Overall, sequencing for BRAF mutation status was performed in 114 paired samples from 45 patients. Eighteen patients (40%) carried a BRAF mutation, including BRAF V600E (12/18), BRAF V600K (5/18), and BRAF V600R (1/18) mutations. Multiple BRAF mutations (V600E and V600K) were found in one patient. Among the patients with BRAF mutations, a good agreement in BRAF mutation status was found between the first and second tumor samples genotyped (91%; Cohen's κ coefficient: 0.81). Discordance in BRAF mutation status was found only in four patients, involving all three patients in whom sentinel lymph node (SLN) metastases were sampled. These SLNs exhibited a wild-type genotype and were discordant with the other BRAF-mutated samples found in the same patient. The intrapatient BRAF status was predominantly homogeneous. However, SLN genotyping using pyrosequencing might be inaccurate in determining the actual mutation status of melanoma. Further studies are required to confirm the lack of reliability of SLN

Human papillomavirus DNA and p16 expression in head and neck squamous cell carcinoma in young French patients

International audienceObjectives Human papillomavirus (HPV) is a risk factor for head and neck squamous cell carcinoma (HNSCC), which is currently increasing worldwide. We evaluated the prevalence of HPV DNA and p16 expression in HNSCC patients age <45 years compared with patients aged ≥45 years. Methods Thirty-nine patients aged <45 years who presented at Besançon University Hospital with HNSCC since 2005 were included in this retrospective study. HPV DNA was detected by HPV genotyping and p16 expression was determined by immunohistochemistry using paraffin-embedded tissues. A matched-group of 38 patients aged ≥45 years from Besançon University Hospital was included. Results The overall prevalence of HPV infection was 11.7%. HPV16 was the only genotype detected in 4/39 and 5/38 patients, and p16 was expressed in 6/39 and 4/38 patients aged <45 years and ≥45 years, respectively. Conclusions HPV-positivity and p16 expression were similar in both age groups. The results suggest that p16 immunohistochemistry may provide a prognosis biomarker for all HNSCCs, not only oropharyngeal cancers, and this should be addressed in large clinical trials

[Ganglioneuroma revealed by complicated nephritic colic]

International audienceINTRODUCTION: Ganglioneuroma is a rare benign nervous tumour frequently located in the retroperitoneal area. We report the case of a 22-year-old female patient where this tumour was revealed by nephritic colic complicated by pyelitis and kidney abscess. EXEGESIS: The patient presented with brutal feverish lumbar pains and urinary signs. Abundant iconography, in particular contrasted enhanced sonography, allowed to show a massive retroperitoneal lump and a puncture-biopsy indicated a ganglioneuroma which was surgically removed by laparotomy. Signs may be varied and misleading. Biological and radiological exams are useful for the diagnosis which can only be confirmed by the thorough histological examination of the removed sample. CONCLUSION: A large retroperitoneal lump without alteration of the patient's health should point to this diagnosis, since the complete surgical removal leads to recovery without recurrence, but all the other differential diagnoses must first be dismissed

Estimating HPV16 genome copy number per infected cell in cervical smears

Human papillomavirus (HPV) 16 is the most oncogenic biological agents for humans. However, essential quantitative aspects of its infection cycle remain inadequately characterized. Specifically, the proportion of infected cells and the viral copy number per infected cell in cervical smears are not well understood. To address this, we employed a combination of limiting dilution techniques and Bayesian statistics on routine cervical smears to estimate the frequency of infected cells and the viral copy number per cell. Our methodology was initially validated through numerical simulations and cell culture experiments. Subsequently, we analyzed 38 HPV16-positive cervical smears, comprising 26 samples from patients without cytological lesions and 12 from patients with low-grade lesions. Our findings indicated that the substantial variability in viral load across samples predominantly stemmed from differences in the frequency of infected cells. Additionally, the mean number of HPV copies per infected cell was consistently low across all samples, ranging from approximately 2.3 to 100 copies. However, in samples with low-grade lesionMarie-Paule Algross, this number was observed to double on average. These results challenge existing assumptions regarding the biology of HPV genital infections, which are typically asymptomatic or minimally symptomatic.</div

Longitudinal follow‐up of HPV16 sequence after cervical infection: Low intrahost variation and no correlation with clinical evolution

International audienceAbstract Human papillomavirus (HPV) 16 exhibits different variants that may differ in their carcinogenic risk. To identify some high‐risk variants, we sequenced and compared HPV16 whole genomes obtained from a longitudinal cohort of 34 HPV16‐infected women who had either spontaneously cleared their infection (clearance group or “C”), or developed cervical high‐grade lesions following a viral persistence (group persistence or “P”). Phylogenetic analysis of paired samples obtained at the beginning (C0 or P0) and at the end (C2 or P2) of the follow‐up (median intervals between C0–C2 and between P0–P2 were 16 and 36.5 months, respectively) revealed a low genetic variability within the host compared to the genetic interhost diversity. By comparing our HPV16 sequences to a reference sequence, we observed 301 different substitutions, more often transitions (60.9%) than transversions (39.1%), that occurred throughout the viral genome, but with a low frequency in E6 and E7 oncogenes (10 and 9 substitutions), suggesting a high conservation of these genes. Deletions and insertions were mostly observed in intergenic regions of the virus. The only significant substitution found between the subgroups C2 and P2 was observed in the L2 gene (L330F), with an unclear biological relevance. Our results suggest a low longitudinal intrahost evolution of HPV16 sequences and no correlation between genetic variations and clinical evolution