1,721,206 research outputs found
Thyroid-like metastases to the scalp from a papillary renal cell carcinoma: A case report
No full textThe skin can host metastatic tumors originating from different organs. We report a case of metastatic renal cell carcinoma to the scalp in a 73-year-old man with features very similar to those of thyroid papillary carcinoma. The histogenesis in relation to its structure is discussed
Should We Test Cancer Susceptibility Genes in Routinely Used Multigene Panels? A Case of Synchronous Lung Adenocarcinoma and Breast Cancer Associated With Germline CHEK2 Mutation
No full textNo abstract availabl
Next-Generation Sequencing in Tumor Diagnosis and Treatment
Full text linkNext-Generation Sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]
Extracutaneous Merkel cell carcinomas harbor polyomavirus DNA
No full textMerkel cell carcinoma is a neuroendocrine tumor, with characteristic morphological and immunohistochemical features. Originally reported as primary carcinoma of skin, it has been described in numerous other sites such as lymph nodes, oral cavity, breast, vaginal walls, and salivary glands. Recent studies have revealed in cutaneous Merkel cell carcinomas a clonally integrated polyomavirus, named Merkel cell polyomavirus. The aim of the present study was to verify the presence of Merkel cell polyomavirus in 5 cases of primary Merkel cell carcinomas of lymph nodes and 1 case of parotid gland to investigate similarities or differences among Merkel cell carcinomas from various sites. Cases studied were 5 primary Merkel cell carcinomas in lymph nodes, 1 in the parotid gland, and 12 in the skin. Twelve cases of primary and metastatic small cell carcinoma of the lung were also investigated. Immunohistochemistry for keratin 20, chromogranin, synaptophysin, and thyroid transcription factor 1 was performed in all cases. Viral DNA was studied using polymerase chain reaction assay and the products evaluated in agarose gel and sequenced. Cytokeratin 20 and Merkel cell polyomavirus were detected in all cases of primary Merkel cell carcinoma irrespective of their site of origin. On the contrary, all cases of pulmonary small cell carcinoma were negative for both Merkel cell polyomavirus and cytokeratin 20. It appears that cutaneous and extracutaneous Merkel cell carcinomas share similar histologic, immunohistochemical, and molecular features. This is further evidence that Merkel cell carcinomas are a multiorgan carcinoma and that Merkel cell polyomavirus might play a role in the pathogenesis of this neoplasm
Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance
Full text linkTumors of the endocrine glands are common. Knowledge of their molecular pathology has greatly advanced in the recent past. This review covers the main molecular alterations of tumors of the anterior pituitary, thyroid and parathyroid glands, adrenal cortex, and adrenal medulla and paraganglia. All endocrine gland tumors enjoy a robust correlation between genotype and phenotype. High-throughput molecular analysis demonstrates that endocrine gland tumors can be grouped into molecular groups that are relevant from both pathologic and clinical point of views. In this review, genetic alterations have been discussed and tabulated with respect to their molecular pathogenetic role and clinicopathologic implications, addressing the use of molecular biomarkers for the purpose of diagnosis and prognosis and predicting response to molecular therapy. Hereditary conditions that play a key role in determining predisposition to many types of endocrine tumors are also discussed
Ectopic Thyroid Tissue in the Adrenal Gland: Report of a Case.
No full textFoci of ectopic thyroid tissue are uncommon. Most sites of thyroid ectopia are confined to the neck region. The presence of ectopic thyroid tissue outside the migration pathway of the primitive thyroid in other locations is exceptional. Given that any disease of the thyroid gland may also affect ectopic thyroid tissue, pathologists has to recognize benign or malignant conditions that may develop in the ectopic focus. We present the case of a 32-year-old woman with ectopic thyroid parenchyma in the adrenal gland. Clinically, postoperative thyroid ultrasound echography and computed tomography scans did not reveal any thyroid tumor. The ectopic tissue was a cyst bordered by mature follicular thyroid structures and was histologically benign, without the molecular alterations associated with malignant tumors of follicular cell derivation (BRAFV600E, N-RAS, H-RAS, K-RAS). Review of the literature reveals that adrenal ectopic thyroid tissue is nearly always cystic and has distinctive pathologic features
Editorial: Molecular characterization of thyroid lesions in the era of “next generation” techniques: volume II
No full textSynovial sarcoma involving the median nerve: a case repot - Median sinir tutulumu gösteren sinoviyal sarkom: Bir olgu sunumu
No full textSynovial sarcoma may arise from different and unusual sites. Here a case of biphasic synovial sarcoma arising or invading the radial nerve in a 59-year-old female classically showing chromosomal reciprocal translocation (X; 18) is reported. The differential diagnosis from similar tumors is discussed
Editorial: Molecular Characterization of Thyroid Lesions in the Era of “Next-Generation” Techniques
No full textNew insight into the cholesterol-lowering effect of phytosterols in rat cardiomyocytes
No full textThe exact mechanisms for cholesterol-lowering effect of phytosterols (PS) are not well defined yet. Dietary cholesterol minimally affects blood cholesterol, and regulation of cholesterolaemia could not exclusively rely on modification in intestinal absorption. Activation of sterol regulatory element-binding proteins (SREBPs), master regulators of lipid homeostasis, is tightly regulated through a sterol-sensing domain (SSD); in cholesterol-depleted cells, SREBP activation upregulates the expression of genes involved in cholesterol synthesis and trafficking. Since PS structure is very similar to cholesterol, they could be sensed by SSD, so preventing SREBP cleavage. To verify this hypothesis primary cultures of rat cardiomyocytes were supplemented with PS (sitosterol, campesterol, and brassicasterol, separately or in a mixture), cholesterol or mevastatin.
PS were actively incorporated by cardiac cells, and caused a significant decrease in cholesterol cellular content. Genes encoding for SREBP2, HMGCR and LDLR were upregulated in cells treated with mevastatin, while no increase in their transcription was detected in PS-supplemented cardiomyocytes, although the reduction of cholesterol was similar in PS- and mevastatin-treated cells. According to herein reported data, it is conceivable that PS are sensed by the SSD so preventing the activation of the nuclear receptors and consequent upregulation of genes connected with cholesterol metabolism
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