Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.

To describe the coexistence of mutations of both the multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) genes in a large Italian family and evaluate if it could be associated with more aggressive clinical manifestations of the two syndromes. Blood samples were obtained for genetic and biochemical analyses. The RET gene exons (8, 10, 11, 13, 14, 15, 16, 18) and the MEN1 coding regions, including the exon-intron boundaries, were amplified by PCR and directly sequenced.

[Our experience on surgical treatment of papillary thyroid microcarcinoma].

The papillary thyroid microcarcinoma (PTMC) is a subtype of the papillary thyroid carcinoma (PTC) 1 cm or less in diameter, bilateral and multifocal in a percentage of 15-20%. We describe our experience on the surgical treatment of 217 patient treated between 2005 and 2008. Our therapeutic algorithm for PTMC includes always total thyroidectomy with surgical exploration of the median cervical compartment and recurrent laryngeal nerve lymph node dissection, reserving the median lymph node dissection only to the cases with pathological lymph nodes and the lateral compartment lymphectomy to the cases that show suspect nodes with or without positive cytology.

Predictive value of recombinant human TSH stimulation and neck ultrasonography in differentiated thyroid cancer patients.

Background: Serum thyroglobulin (Tg) stimulation by recombinant human TSH (rhTSH), in combination with neck ultrasonography (US), is an important tool in the first follow-up of differentiated epithelial cell thyroid carcinoma (DTC) patients. The objective of this study was to investigate if a second rhTSH stimulation, performed 2-3 years later, is of clinical utility in the follow-up of these patients.

Methods: One hundred and one consecutive ambulatory DTC patients were studied.

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

Context: Mutations of the HRPT2 gene have recently been implicated in the development of parathyroid carcinoma.

Objective: The objective of this study was early diagnosis of parathyroid tumor in a family with germline HRPT2 mutation.

Patients, Methods, And Results: In a 40-yr-old male previously treated for parathyroid atypical adenoma, we screened the 17 translated HRPT2 exons and their exon-intron boundaries and found a germline frameshift mutation in exon 7 (685delAGAG) predicting a premature stop codon at nucleotides 767-769.