Gene/Protein Disease Symptom Drug Enzyme Compound
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 95,504 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Medullary carcinoma of the thyroid (MTC) may be sporadic or may occur on a hereditary basis. Hereditary MTC can occur either alone -- familial MTC (FMTC) -- or as the thyroid manifestation of multiple endocrine neoplasia type 2 (MEN 2) syndromes (MEN 2A and MEN 2B) or other forms. Germ-line mutations in RET cause MEN 2. Genetic testing, now available, forms the basis for MTC screening procedures. In the past few years, several genotype-phenotype correlations have focused on the relationship between specific mutations and different MEN 2 syndrome variants. Differences in dimerization induction intensities are a reasonable explanation for the phenotypes resulting from mutations of the different cysteines. Here we described the molecular mechanisms, diagnose and treatment as well as our experience on the management of this rare form of thyroid cancer.
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PMID:[Medullary thyroid carcinoma: clinical and oncological features and treatment]. 1561 26

Medullary carcinoma of the thyroid (MTC) occurs sporadically, or in familial forms in familial medullary thyroid carcinoma and multiple endocrine neoplasia types 2A and 2B. In the familial forms it is associated with well-characterized, germline mutations in the RET protooncogene. The mutation sites differ in MEN2A and MEN2B, and MTC develops at an earlier age and is more aggressive in MEN2B. Screening of relatives of affected individuals for such mutations can identify those at risk of developing MTC and total thyroidectomy can be carried out in the first decade of life before the development of clinical disease. Analysis of such removed thyroid glands shows abnormalities of the parafollicular C-cells in almost all cases. The abnormalities range from C-cell hyperplasia, either diffuse or nodular, to microcarcinoma and occasionally frank MTC. The abnormalities are bilateral and affect the upper two thirds of the thyroid lobes. Microcarcinomas may be visible with the naked eye, but often they are identified only on microscopy. Histopathological examination of the entire gland is essential.
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PMID:The pathology of preclinical medullary thyroid carcinoma. 1564 May 48

Medullary carcinoma of the breast has a relatively favorable prognosis despite its malignant histopathological appearance, providing a challenge for the pathologically based diagnosis of breast cancer. Macroscopic and microscopic findings combined provide diagnostic criteria. The importance of the immunophenotype of medullary carcinoma is not well defined. Because the reproducibility of morphological criteria is limited, we conducted an immunohistochemical study in search of markers that could facilitate histopathological classification. We examined 32 medullary carcinomas in comparison with 30 high grade ductal invasive carcinomas with similar morphology using 23 different immunohistochemical markers. The results showed an overlap with the so called basal like subtype of invasive breast cancer (negativity for steroid hormone receptor, positivity for basal cytokeratins). None of the immunohistochemical markers enabled a specific discrimination between the two groups. Medullary carcinomas overexpress EGF-R more frequently (P<0.004). In combining the characteristic morphological criteria and the immunohistochemical detection of the basal like phenotype and EGFR, a higher diagnostic accuracy can be achieved. The immunophenotype alone does not allow a definite classification of medullary carcinoma.
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PMID:[Diagnosis and immunohistochemistry of medullary breast cancer]. 1686 35

Medullary carcinoma (MC) of the breast is a high grade carcinoma that has a relatively favourable prognosis compared to atypical medullary carcinoma (AMC) and other more common breast carcinomas. In a retrospective study in Brunei Darussalam of all available biopsy samples, we compared the nature of the tumour-infiltrating lymphocytes (TILs) in MC and AMC in relation to recorded tumour characteristics. CD4, CD8, CD20, CD25, CD45RO, and CD56 and common tumour biomarkers were detected immunohistochemically. The 11 cases of MC had no nodal metastases and survived without relapse, suggesting good tumour control. In contrast, 7 cases of nodal metastases and 1 relapse were observed in 12 AMCs. Although not statistically significant, there was a tendency for a greater proportion of AMCs to express the Her2/neu oncogene. Higher proportions of CD45RO+ and CD8+ cells, and lower levels of CD20+ cells, were characteristic of TILs in MC compared to AMC. The ratio of CTL to B-lineage cells in TILs in both tumours considered together was inversely related to the expression of HER2/neu and the presence of nodal metastases. The findings suggest that CTLs, rather than antibodies, may give better tumour control in MC relative to AMC. We propose that a comparison of the cellular, molecular and immunological characteristics of MC and AMC, as a paired model system, in a multi-centre investigation with a much larger number of samples will be valuable for better understanding mechanisms of tumour immunity.
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PMID:Possible significance of differences in proportions of cytotoxic T cells and B-lineage cells in the tumour-infiltrating lymphocytes of typical and atypical medullary carcinomas of the breast. 2009 46