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.

Pulmonary metastasis of struma ovarii: a case report.

We report the case of a 42-year-old woman who presented with multiple pulmonary nodules. Surgical resection of 3 nodules revealed differentiated thyroid carcinoma. Thyroid and neck ultrasound was normal.

Impact of fluorodihydroxyphenylalanine-18F positron emission tomography on management of adult patients with documented or occult digestive endocrine tumors.

Context And Objectives: Fluorodihydroxyphenylalanine-(18F) (FDOPA) positron emission tomography (PET) is a recent imaging modality used to localize endocrine tumors. This study was conducted to evaluate the impact of FDOPA-PET on the management of patients referred for carcinoid or noncarcinoid digestive tumors and the clinical relevance of the treatment decisions based on this examination.

Methods And Patients: Between March 2002 and December 2006, 101 FDOPA-PET examinations were performed in 78 adult patients for follow-up of histologically documented carcinoid tumor of the ileum (23 patients) or noncarcinoid digestive tumor (26 patients) or to screen for occult digestive endocrine tumors (29 patients).

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Objective: The clinical expression of maturity-onset diabetes of the young (MODY)-3 is highly variable. This may be due to environmental and/or genetic factors, including molecular characteristics of the hepatocyte nuclear factor 1-alpha (HNF1A) gene mutation.

Research Design And Methods: We analyzed the mutations identified in 356 unrelated MODY3 patients, including 118 novel mutations, and searched for correlations between the genotype and age at diagnosis of diabetes.

Bone metastases of differentiated thyroid cancer: impact of early 131I-based detection on outcome.

Bone is the second most frequent target of distant metastases in patients with differentiated thyroid cancer, and such forms carry a very poor prognosis. The impact of (131)I therapy in this setting is controversial. We describe the diagnostic circumstances and outcome of patients with bone metastases recently managed in two institutions.

Stimulation test in the follow-up of thyroid cancer: plasma rhTSH levels are dependent on body weight, not endogenously stimulated TSH values.

Background: Stimulation testing in the first year following thyroid ablation has important prognostic value in thyroid cancer patients. Recombinant human TSH (rhTSH) is better tolerated than thyroid hormone withdrawal but provides only transient stimulation so that the TSH threshold of 30 mIU x l(-1) which defines adequate testing during thyroid hormone withdrawal is not appropriate for rhTSH stimulation. We looked at rhTSH levels after a standard two intramuscular injections of 0.

Should 'low-risk' thyroid cancer patients with residual thyroglobulin be re-treated with iodine 131?

Objective: The American consensus statement on patients with low-risk thyroid cancer, published in 2003, suggests repeat (131)I therapy if the thyroglobulin value is elevated at first follow-up. We evaluated this strategy in our practice.

Methods: Among 407 patients with thyroid cancer who had total thyroidectomy and (131)I ablation between January 2000 and December 2003, 12 patients with stage I thyroid cancer (any tumour (T), any node (N), metastasis (M)0 if < 45 years or T1, N0, M0 if > 45 years), were re-treated on the basis of their thyroglobulin level at first follow-up.

Which thyroid cancer patients need periodic stimulation tests?

Purpose: Recurrences are frequent in thyroid cancer patients and long-term follow-up is therefore necessary. We evaluated the yield of rhTSH stimulation in three groups of patients, classified according to the UICC/TNM risk stratification and the results of first follow-up testing.

Methods: The study population comprised 129 patients referred for rhTSH testing.

[PET in thyroid cancers].

FDG PET can detect thyroid cancer in patients referred for exploration of a different cancer. Because of its lack of specificity, however, this modality is not indicated for examination of thyroid nodules: ultrasonography and fine needle biopsy with cytology allow histological diagnosis, which can be completed by iodine-123 scintigraphy when an autonomous nodule is suspected. No information is currently available about the utility of FDG PET in preoperative staging.

Completion pancreatectomy for postoperative peritonitis after pancreaticoduodenectomy: early and late outcome.

Hypothesis: Completion pancreatectomy in patients with pancreatic leakage associated with postoperative peritonitis after pancreaticoduodenectomy is a viable salvage procedure.

Design: Retrospective analysis from a cohort of consecutive patients admitted between January 1, 1989, and December 31, 1999, for postoperative peritonitis originating from pancreaticojejunostomy leakage.

Setting: Tertiary referral center with surgical intensive care unit specializing in the treatment of intra-abdominal sepsis.