Endocrine Abstracts

The RET proto-oncogene, located on chromosome 10q11.2 encodes a receptor tyrosine kinase. Its extracellular portion contains four cadherin-like repeats and a cysteine-rich region, while the intracellular portion contains the tyrosine kinase domain. RET is essential for development of the sympathetic, parasympathetic and enteric nervous systems and the kidney. Accordingly, RET disruption by germline mutations causes congenital agangliosis of the gastrointestinal tract (Hirschsp...

The need for thyroid residue ablation in papillary thyroid cancer (PTC), classified with the TNM staging (AJCC, 2002) as pT1, with a maximum diameter comprised between 1 and 2 cm (pT1/1-2) and/or multifocal, is still debated. Aim of this study was to compare the outcome of pT1N0M0 patients submitted or not to postsurgical radioiodine ablation. Consecutive patients followed-up at this Institution from 1996 to 2010 were enrolled. All pT1/1-2N0M0 cases were radioiodine ablated be...

The recent unavailability of pentagastrin (Pg) in several European Countries, prompted us to evaluate the potency and tolerability of the ‘high dose calcium test’ (Ca) in the stimulation of serum human calcitonin (hCt). We compared Pg- and Ca-stimulated hCt in 19 patients already treated for medullary thyroid cancer (MTC) in remission (n=19) or in persistence (n=13), in 18 patients with chronic thyroiditis and multinodular goiter, and in 15 healthy cont...

Incidental thyroid carcinoma (IC) is defined as a tumor diagnosed at histology after surgery for benign diseases and without a preoperative diagnosis of malignancy. Since the prevalence of IC reported in the literature is extremely variable (4.6–17%), mostly due to the limited number of cases, we aimed to study the features of IC in our large series. We retrospectively evaluated 1955 patients who consecutively underwent total thyroidectomy for non malignant diseases from ...

Context: Although unexplained conflicting results are present in the literature, most of studies report the association of BRAFV600E in papillary thyroid carcinoma (PTC) with a more advanced disease and with a worst prognosis. We recently demonstrated that in most of the cases PTC consists of a mixture of tumour cells with wild-type and mutant BRAF. Hence, we examined the association of percentage of BRAFV600E alleles with clinicopathologic parameters at diagnosis and disease ...

Activating mutations of the RET proto-oncogene, encoding a tyrosine kinase receptor, are associated with inherited syndromes, MEN2A and MEN2B, and with both familial and sporadic medullary thyroid cancer (MTC). Single base-pair missense mutations in the extracellular cysteine-rich domain are responsible for the majority of MEN2A and familial MTC (FMTC) cases. Rarely, somatic deletions and germline duplications of variable segments of the gene have been reported in spora...

Congenital hypothyroidism (CH) affects 1:2.000–3.000 newborns. In most cases, the cause is a developmental defect (dysgenesia) or an arrested migration (ectopia) of the thyroid gland. In the remaining cases TSH resistance or defects in iodide transport or thyroid hormonogenesis account for CH. The differential diagnosis is aimed to recognize permanent CH forms and to achieve an etiologic diagnosis for accurate management and genetic counselling. Appropriate investigations...

Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...