Germline mutations in the new E1' cryptic exon of the gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

Backgrounds: The incidence of germline mutations in the newly discovered cryptic exon (E1') of gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or pheochromocytoma (PPGL) is not currently known.

Methods: We studied a large international multicentre cohort of 1167 patients with a previous negative genetic testing. Germline DNA from 75 patients with a single tumour of the VHL spectrum ('Single VHL tumour' cohort), 70 patients with multiple tumours of the VHL spectrum ('Multiple VHL tumours' cohort), 76 patients with a VHL disease as described in the literature ('VHL-like' cohort) and 946 patients with a PPGL were screened for E1' genetic variants.

The transtheoretical model (TTM) to gain insight into young women's long-term physical activity after bariatric surgery: a qualitative study.

Background: Over the long term, people who have undergone bariatric surgery (BS) remain overly sedentary with inadequate physical activity (PA). The purpose of this study was to apply the transtheoretical model (TTM) to (1) explore in-depth how PA is experienced years after BS and (2) identify the barriers to and facilitators of PA involved at each stage of change (SOC).

Methods: Seventeen women with a mean age of 32.

Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.

Background: DICER1 syndrome is an autosomal dominant disorder that predisposes individuals to develop benign or malignant tumours from infancy to adulthood. There is low-to-moderate penetrance of tumour development, which is sex- and age-dependent. Multinodular goitre (MNG) is among the most highly penetrant phenotype of the disorder, especially in females.

Two cases of male patients followed for a classical form of congenital adrenal hyperplasia (CAH), presenting an azoospermia: analysis and review of the literature.

Background: Congenital hyperplasia of the adrenal glands is a rare pathology, which can have an impact on male fertility. We report 2 cases of azoospermia in patients followed for a classical form of congenital adrenal hyperplasia.

Cases Presentation: 1st case: After 18 months of infertility of the couple, explorations showed a high level of ACTH on the hormonal biological analysis.

Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.

Context: Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic screening be proposed to all patients with PPGL.

Objective: Our objective was to evaluate how a positive genetic test impacts the management and outcome of patients with SDHx or VHL-related PPGL.

Graves' disease: Introduction, epidemiology, endogenous and environmental pathogenic factors.

Graves' disease is the most frequent cause of hyperthyroidism. Many questions remain about the choice of diagnostic evaluations and treatment strategy according to clinical context (age, gender, pregnancy, etc.) and about the best management of the main extrathyroidal complication that is Graves orbitopathy.

[New perspectives for the diagnosis and prognosis of Graves' disease].

Graves' thyroiditis is a frequent disease. It has a considerable impact on patient's life quality and health expenses. Thus, it is important to optimize the treatment and follow up.

Temozolomide treatment can improve overall survival in aggressive pituitary tumors and pituitary carcinomas.

Objectives: Only few retrospective studies have reported an efficacy rate of temozolomide (TMZ) in pituitary tumors (PT), all around 50%. However, the long-term survival of treated patients is rarely evaluated. We therefore aimed to describe the use of TMZ on PT in clinical practice and evaluate the long-term survival.

MicroRNA-375/SEC23A as biomarkers of the in vitro efficacy of vandetanib.

In this study, we performed microRNA (miRNA) expression profiling on a large series of sporadic and hereditary forms of medullary thyroid carcinomas (MTC). More than 60 miRNAs were significantly deregulated in tumor vs adjacent non-tumor tissues, partially overlapping with results of previous studies. We focused our attention on the strongest up-regulated miRNA in MTC samples, miR-375, the deregulation of which has been previously observed in a variety of human malignancies including MTC.

Post-surgical management of non-functioning pituitary adenoma.

Post-surgical surveillance of non-functioning pituitary adenoma (NFPA) is based on magnetic resonance imaging (MRI) at 3 or 6 months then 1 year. When there is no adenomatous residue, annual surveillance is recommended for 5 years and then at 7, 10 and 15 years. In case of residue or doubtful MRI, prolonged annual surveillance monitors any progression.

Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays.

Background: The aim of this study was to compare the detection of BRAF(V600E) by immunohistochemistry (IHC) using a mutation-specific antibody with molecular biology methods for evaluation of papillary thyroid carcinoma (PTC) patients.

Patients And Methods: This study concerned 198 consecutive conventional PTC patients, of which the majority were women (133/198; 67%), with a mean age of 56 years (range 19-79 years). BRAF mutation analysis was performed using DNA-based (direct sequencing, pyrosequencing, and SNaPshot) and IHC (VE1 antibody) methods.

The clinical spectrum of RET proto-oncogene mutations in codon 790.

Objective: Due to a strong genotype-phenotype correlation, the timing of prophylactic thyroidectomy in rearranged during transfection (RET) gene mutation carriers is usually dictated by genetic analysis.

Subjects And Methods: We report a nationwide retrospective study of the clinical data of 77 French patients from 19 families with a mutation in codon 790 of the RET proto-oncogene.

Results: The average age at diagnosis was 35.

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.

Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Although genotype-phenotype studies have so far failed to identify any statistical correlations, some families harbor recurrent tumor patterns. The function of MENIN is unclear, but has been described through the discovery of its interacting partners.

Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.

Context: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant syndrome with incomplete penetrance that can associate in a single patient parathyroid adenoma or carcinoma, fibro-osseous jaw tumor, cystic kidney lesion, and uterine tumor. Germline mutations of the HRPT2 gene (CDC73) coding for parafibromin are identified in approximately 50%-75% of HPT-JT cases and in approximately 14% of familial isolated hyperparathyroidism. A whole deletion of this gene has recently been reported in 1 sporadic case and in a family presenting with HPT-JT.

Features of cancer management in obese patients.

There is worldwide increased in obesity prevalence and statistical almost half of United-States, including children, could be obese by 2050. Obesity in cancer patients is a major issue in oncology because weight gain and obesity account for approximately 20% of all cancer cases. Indeed, increased obesity is linked with higher risk of various types of cancer and a poorer survival.

Clinical characteristics and outcome of acromegaly induced by ectopic secretion of growth hormone-releasing hormone (GHRH): a French nationwide series of 21 cases.

Context: Ectopic GHRH secretion is a rare cause of acromegaly, and case reports are mainly isolated.

Setting: From the registry of the sole laboratory performing plasma GHRH assays in France, we identified cases of ectopic GHRH secretion presenting with acromegaly between 1983 and 2008.

Patients: Twenty-one patients aged 14-77 yr were identified from 12 French hospitals.

Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds.

Familial isolated pituitary adenoma (FIPA) occurs in families and is unrelated to multiple endocrine neoplasia type 1 and Carney complex. Mutations in AIP account only for 15-25% of FIPA families. CDKN1B mutations cause MEN4 in which affected patients can suffer from pituitary adenomas.

[Thyroid ophthalmopathy at the time of European Group On Graves Orbitopathy (EUGOGO)].

Thyroid ophthalmopathy is one of the features of auto-immune thyroid diseases. Exophtalmos is not the only sign of this affection and may even be absent in severe sight-threatening cases. All subjects with this ophtalmopathy should benefit from euthyroidism restoration, smoking withdrawal and local measures.

Clinical impact of cervical lymph node involvement and central neck dissection in patients with papillary thyroid carcinoma: a retrospective analysis of 368 cases.

The impact of cervical lymph node metastases and the optimal surgical management of the neck in patients with papillary thyroid carcinoma (PTC) remain controversial. The objectives of this retrospective study were to determine, in patients with PTC, the predictive factors and the impact on tumor recurrence rate of cervical lymph node involvement, and to evaluate the oncologic results and the morbidity of central neck dissection (CND). We reviewed the records of patients who had undergone surgical treatment for PTC at our institution between 1990 and 2000.