Endocrine Abstracts

Selpercatinib is a specific RET inhibitor, highly effective in the treatment of advanced RET-mutant medullary thyroid carcinoma (MTC). The consequences of selpercatinib administration in MTC patients who have not undergone thyroid surgery are still unknown. We report the case of an 84-year-old man undergoing investigations for worsening diarrhea and weight loss. Upon a neck ultrasound scan and blood exams that pointed out high levels of both calcitonin (CT, 20.583 ng/l) and ca...

Cytological evaluation establishes the diagnosis of a benign or malignant nodule in 70–80% of all cases, but the remaining cases lack the features needed for a definitive diagnosis. Molecular tests have been developed to assist in determining if a nodule with indeterminate cytology is benign or malignant. The first studies focused on the analysis of the most common thyroid cancer (TC) mutation, BRAFV600E. However, since many TCs are driven by other mutations, testing for ...

The evaluation of a thyroid nodule is a very common clinical problem and fine needle aspiration biopsy (FNAB) is the only test that can provide a definitive preoperative diagnosis of malignancy. The sensitivity and specificity of FNAB are limited by aspirates that yield insufficient material for definitive diagnosis and those with indeterminate diagnoses, which can account for up to 30–40% of all specimens. The detection of several novel gene mutations in differentiated t...

Thyroid cancer (TC) is the most common endocrine malignancy, with an increasing number of diagnosis in the last decades. Of all TC histotypes, the poorly differentiated and anaplastic TCs (PDTC and ATC) have a very poor prognosis because of their invasiveness and metastatic behavior, as well as their insensitivity to radioactive-iodine treatment. In the last years, the stem-cell model has been proposed to further explain TC carcinogenesis. According to this model, only a subse...

Oxidative stress (OS) can have an impact both in the pathogenesis and in the progression of TC, as it has been shown to induce oncogenes and inhibit tumor suppressors. The main source of cellular ROS is represented by NADPH oxidases (NOXs). Aims of the study were to investigate the NOX-derived OS in TC samples, benign nodules and corresponding normal tissues, and to correlate the level of OS with histological classification, genetic profile and clinical and prognostic features...

Thyroid cancer (TC) is the most common endocrine tumor and its incidence has increased faster than in any other malignancy. Although TCs are usually well differentiated, disease recurrence or persistence is high, because of local and distant metastasis and therapeutic resistance. As in other cancer types, despite the promising results obtained in pre-clinical studies, the efficacy of Targeted Therapy is highly variable and therapy resistance is not uncommon. This may be due to...

There are growing evidences suggesting the existence of intra-tumor heterogeneity within the same patient, leading to a different genetic pattern between primary tumour and metastases.We report a paradigmatic example of genetic heterogeneity in thyroid cancer (TC). A 42 years old female patient was submitted, for a follicular TC, to total thyroidectomy and lymphadenectomy followed by radioiodine residue ablation in late 1999. In 2000 and 2001 diagnostic ...

TERT is the protein component of the telomerase enzyme and is overexpressed in many cancer types. The most well-known role for TERT is the regeneration of telomeres allowing the avoidance of senescence and the continued proliferation of stem and cancer cells. Recent studies have identified other roles for TERT in compartments outside the nucleus, in particular in mitochondria, with a protective role against endogenous and therapy-induced oxidative stress (OS). A small subset o...

Thyroid cancer (TC) is the most common Endocrine malignancy. Nowadays Undifferentiated Thyroid Cancers (UTCs) are still a lethal disease, mostly because of the lack of effective therapeutic options. The insurgence of therapy resistance and disease relapse is believed to be caused by a subpopulation of cancer cells with a stem-like phenotype and specific tumor-initiating abilities, the so called Tumor-Initiating Cells (TICs). Several markers have been identified and described o...

Background: The familial predisposition to the development of autoimmune thyroiditis disease (AITD), including both Graves’ and Hashimoto’s diseases, is well known. This evidence could be related to both common genetic susceptibility and environmental factors. Genetic anticipation has been reported in some Mendelian diseases, including non-thyroidal autoimmune diseases, as a phenomenon for which an accumulation of alterations in susceptibility genes, generation after...