Endocrine Abstracts

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Embryonic transcription factors have been involved in tumourigenesis. The transcription factor TBX1 regulates the embryonic parathyroid cells fate. Indeed, it has never been investigated in human adult parathyroids. Here, expression, function and regulation of the TBX1 gene were analyzed in adult normal and tumour parathyroid tissues. Immunohistochemistry identified 30–70% (mean±S.E.M, 52.0±7.3%) of cells expressing TBX1 at nuclear levels...

An embryonic gene signature has been suggested in parathyroid tumours. We investigated the expression of early embryonic stem cell (ESC) genes in parathyroid tumours. POU5F1/OCT4, SOX2 and NANOG transcripts were detected in almost all parathyroid adenomas (PAds; n=22) and atypical PAds (n=3), besides the variable expression of ESC genes KLF4, EGR1, and REX1/ZFP42. OCT4, SOX2 and NANOG proteins expression w...

Cancer cells and embryonic stem cells share many key biological properties and have common genetic signature: transcription factors regulating self-renewal and differentiation have been found expressed in human cancer cells. We focused our attention on TBX1, the gene involved in 22q11.2 microdeletion/DiGeorge syndrome, which is involved in heart, thymic and parathyroid cells differentiation.Real-time PCR, western blot and immunohistochemistry de...

Tumour-associated fibroblasts (TAFs) are important players in tumour formation, growth, enhancement and metastasis. We firstly investigated the TAFs component in human parathyroid neoplasia from patients with primary hyperparathyroidism. Alpha-smooth muscle actin (alpha-SMA) has been used to identify activated TAFs (myofibroblasts). Culturing explants from parathyroid adenomas (PA, n=5), large spindle-shaped alpha-SMA+ cells outgrew from explants and the expression of...

In our previous investigation on microRNAs expression pattern in parathyroid carcinomas (Ca), we detected the over-expression of microRNAs belonging to C19MC, the largest human cluster on chromosome 19q13.41. In the present study, the analysis of the expression of selected C19MC and the closely distal MIR371-3 clusters microRNAs (MIR512-3p, MIR517C, MIR520H and MIR372) was extended to 11 Ca, 24 adenomas (Ad) and 6 normal glands. The four microRNAs was expressed in 11% of parat...

Tumour-associated myofibroblasts are activated fibroblasts known to influence many aspects of tumour development. Parathyroid tumours show increased microvessels and atypical/malignant tumours are characterized by fibrous bands suggesting activation of the stromal cells. The aim of the present study was to investigate the role of myofibroblasts in parathyroid tumorigenesis. Human parathyroid tissues were analysed by specific immunostaining for the myofibroblast marker alpha-sm...

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. Though the loss of the oncosuppressor HRPT2 gene product, parafibromin, has been involved in the hyperparathyroidism-jaw tumor syndrome and in a consistent set of sporadic parathyroid carcinomas, parathyroid carcinogenesis remains obscure. MicroRNAs (miRNAs) are a new class of small, non-coding RNAs implicated in embryonic development and cancer. A deregulated miRNA can induce the aberrant expression ...

Long noncoding RNAs (LncRNAs) are transcripts of more than 200 nucleotides not translated into proteins. They carry out diverse functions, including transcriptional regulation in cis or trans, organization of nuclear domains, and regulation of proteins or RNA molecules. Aberrant expression of LncRNAs has been reported in human cancers; indeed, data in parathyroid tumors are lacking. Based on the profiling through lncProfilersTM qPCR Array with SYBR...

Aberrant epigenetic features occurring in parathyroid tumors involve DNA methylation, histone methylation, and non-coding RNAs. RASSF1A and APC were frequently downregulated in human cancers. Here, we investigated RASSF1A and APC methylation status in a series of parathyroid tumors from Italian patients with primary hyperparathyroidism (PAds, n=80), confirming RASSF1A and APC promoter methylation as a hallmark of sporadic parathyroi...