Endocrine Abstracts

Introduction: Podoplanin (PDPN) is a transmembrane protein linked with metastases of various cancers, including papillary thyroid carcinoma (PTC). PDPN is significantly upregulated in PTC specimens and PTC- derived cell lines: TPC1 and BCPAP, harboring RET/PTC and BRAF V600E alterations, respectively. We observed that depletion of PDPN impairs migration of TPC1 cells, but surprisingly, augments metastases of BCPAP cells. To elucidate this phenomenon we aimed to further investi...

Introduction: RET gene is responsible for various human cancers and is mutated and hyperactivated in nearly 100% of familial (germline mutation) and in about 60% of sporadic (somatic mutation) MTC cases. Moreover, RET gene play a role in several physiologic and pathologic conditions. Very recently, the hyperfunction of RET was found to be a key process in weight loss. The hypothesis is that in a peculiar population in which RET gene is mutated and constitutively activated from...

Sporadic medullary thyroid cancer (sMTC) presents mutations of the RET proto-oncogene in about 50% of the cases and of the RAS proto-oncogene in about 20% of the cases. In about 15% of cases, sMTC is multifocal and it is not known whether multiple foci can be considered as intrathyroidal metastases of the main tumor focus or if they can be considered as independent tumors. To clarify this issue, we examined the mutation profile of multiple intrathyroidal tumo...

Anaplastic thyroid cancer (ATC) is usually treated with surgery, external hyperfractionated radiation therapy, and chemotherapy. However, because of the aggressiveness of this type of cancer, these treatments allow about 6-10 months of median survival. Therefore, it is challenging to predict the ATC patient clinical therapy responsiveness. Pazopanib is a multitarget tyrosine kinase inhibitor of VEGF receptors, PDGF, and c-Kit, and its effect in primary human ATC cells (pATC) h...

Objectives: Pathogenic variants in the DICER1 gene can be found in both benign and malignant thyroid nodules, more often in pediatric patients. Somatic pathogenic variants in "hotspot" regions can coexist with germline variants in other regions of the DICER1 gene, which are associated with DICER1 syndrome, an autosomal dominantly inherited disease that predisposes to the development of various tumors from childhood. In addition to thyroid tumors, pleu...

Objectives: Tumor molecular genotyping plays a key role in improving the management of advanced thyroid cancers. Molecular tests are classically performed on Formalin-Fixed Paraffin-Embedded (FFPE) carcinoma tissue. However alternative molecular testing strategies are needed when FFPE tumoral tissue is unavailable. The objective of our study was to retrospectively assess the performance of targeted DNA and RNA-based Next Generation Sequencing (NGS) on the fine needle aspirate ...

Objectives: The specter of malignant thyroid lesions comprises tumors with different degrees of differentiation, rendering the differential diagnosis and prognosis of these tumors challenging. Focal adhesion kinase (FAK) is a tyrosine kinase involved in cellular communication and locomotion, functioning as a hub in the interactome of focal adhesions. Its upregulation has been demonstrated in a number of tumor types including thyroid cancer. FAK is regulated on several levels, ...

Angiotensin-converting enzyme 2 (ACE2), Transmembrane serine protease 2 (TMPRSS2) and Furin were known to be key players for the SARS-CoV-2 infection. Thyroid gland was shown to be one of the relevant targets for SARS-CoV-2 infection allegedly due to the higher expression levels of these molecules in follicular cells. However, it remains to be fully determined the expression of ACE2, TMPRSS2 and Furin in normal follicular cell. In addition, the putative role of these molecules...

Introduction: Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is an encapsulated or well-defined, not invasive neoplasm with a follicular growth pattern and core features of papillary thyroid carcinoma (PTC). This is considered to be a ’pre-malignant’ lesion of the RAS-like group. The RAS oncogene plays a huge role in human tumorigenesis. RAS gene mutations occur, in an average of 30–45% of follicular thyroid cancers (FTC). A...