Endocrine Abstracts

The von Hippel-Lindau (VHL) syndrome is an inherited multi-tumor disorder characterized by clinical heterogeneity and high penetrance. Pheochromocytoma (Pheo) is present in 10-15% of cases. It can be isolated or associated with other lesions such as hemangioblastomas, kidney cysts or cancer, and pancreatic lesions. Pheos secrete norepinephrine and are generally located in the adrenals. While performing genetic testing in patients affected by apparently sporadic pheos or PGLs, ...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. Tumor microenvironment plays a pivo...

Paragangliomas are rare neuroendocrine tumors derived from neural crest cells: if localized in the adrenal medulla they are called Pheocromocytomas (Pheo).The 30–40% of Pheo are mutated in one of the susceptibility genes among which there are genes encoding for the four subunits of the succinate dehydrogenase (SDH). Germ line mutations of SDHB are metastatic in about 80% of the cases. Surgery is the current therapy, but in presence of metastasis there is no effective trea...

Paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of these tumors are mutated in different susceptibility genes, including those encoding the different subunits of the succinate dehydrogenase, a complex involved both in the tricarboxylic acid cycle and in the oxygen transport chain. The aim of this project was to investigate whether SDHB mutations may account for alterations in cell metabolism and functions. Since PGL cell lines are not available, we used...

Germline mutations in the RET gene cause MEN2, an inherited cancer syndrome associated with medullary thyroid carcinoma (MTC). We performed genetic analysis on DNA from whole blood of a 58 yr old female affected by a multifocal MTC. Exons 10, 11, 13, 15 and 16 of RET gene were amplified by PCR using specific primers and characterised by direct automatic sequencing. Here, we report a new RET point mutation: a heterozigous missense mutation Y606C, a G to A nucleotide substitutio...

Fascin-1(FSCN1) is an actin-bundling protein expressed in several solid carcinomas and often associated to an invasive and aggressive phenotype as it is involved in cytoskeleton rearrangement and filopodia formation. Adrenocortical carcinoma (ACC) is a rare endocrine malignancy characterized by a poor prognosis, particularly when metastatic at diagnosis. Complete surgical resection of the tumor mass is the main therapy for ACC patients in addition to the adjuvant administratio...

Adrenocortical cancer (ACC) is a rare aggressive malignancy, with poor prognosis when metastaic at diagnosis. Recent ACC pan-genomics analysis contributed to redefine the risk groups on molecular bases, including tumor micro RNA (miR), which can be detectable not only in the primary lesion but also in the bloodstream.We develop a quantitative real-time assay for the measurement of absolute levels in plasma samples of miR483 and its mature miR483-5p form....

The recent discovery of the presence of brown adipose tissue (BAT) also in human adults is pivotal for development of anti-obesity therapies. This type of fat, in fact, mainly consists of brite cells (brown adipocytes appearing for a browning process in white fat) which are involved in adiposity control. The origin of brite cells in adult white adipose tissue (WAT) is still unclear as human cell models are lacking.Our study demonstrated the presence of B...

The adipose tissue (AT) is an important endocrine organ. Upon energy imbalance, the adipose cells become dysfunctional, supporting the development of metabolic pathologies and tumours. The adipose cell is among the main actor of the tumor microenvironment, and is able to establish a crosstalk with the cancer cell resulting in a reciprocal reprogramming. Adrenocortical carcinoma (ACC) is a rare endocrine malignancy affecting the adrenal cortex. In the most aggressive forms, can...

Purpose: To genotype patients with head–neck paragangliomas (HNPGL) and evaluate the percentage and types of germ-line mutations in patients classified according to family history (FH) and clinical presentation.Design: In total, 101 consecutive patients with HNPGL were examined for mutations in SDHB, SDHC, SDHD. SDHAF2 and VHL genes by PCR/sequencing.According to a careful FH, clinical, laboratory (including meta...