Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During a study of 80 subjects from the same family, 47 persons underwent clinical examination and blood sampling for carcinoembryonic antigen and thyrocalcitonin. A preliminary investigation had shown that two members of the family had histologically confirmed amyloid stroma MTC, 2 others had probable malignant disease, 3 children died of intestinal obstruction in the neonatal period, and a fourth child operated for megacolon when 3 days old was the descendant of 2 subjects with probable thyroid carcinoma. Three years later, the study was updated and concentrated on the patients with the highest risk of developing malignant disease. The diagnosis was confirmed in one patient considered to have probable MTC. One case of malignant disease was discovered in a child considered to be normal 6 years previously. Three other patients, considered to be normal 6 years before had very probable MTC. These results indicated that familial investigations including plasma calcitonin measurements after pentagastrin stimulation, are valuable when amyloid stroma MTC is diagnosed in one member of the family. This test should be repeated periodically. The surgical indications in patients with abnormal responses should take into consideration the psychological context.
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PMID:[Value of the assay of plasma carcinoembryonic antigen and thyrocalcitonin in the detection of medullary cancer of the thyroid with amyloid stroma. Results of a familial survey of 47 subjects]. 648 13

Familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia type 2A syndromes are dominantly inherited diseases caused by activating germline mutations of the RET protooncogene. The majority of these patients carry a germline point mutation affecting one of five cysteine residues encoded by exon 10 (codon 609, 611, 618, or 620) or 11 (codon 634). In a few FMTC families, point mutations involving noncysteine codons in exon 13 (codons 768, 790, and 791), 14 (codon 804), or 15 (codon 891) have been reported. Hirschsprung's disease is a nonneoplastic disorder associated with RET mutations leading to a loss of function effect. Mutations are identified in 50% of the familial cases and are scattered along the gene. We now report the study of a FMTC family with four affected members and a history of fatal neonatal intestinal obstruction in the sister of the proband. Genetic analysis demonstrated the absence of an usual FMTC mutation and the presence of a germline 9-bp duplication in RET exon 8 in the heterozygous state in all patients with MTC. This new mutation creates an additional cysteine residue in the extracellular cysteine-rich domain of RET. Further studies are warranted to confirm whether this new mutation is causing MTC only or could be associated with Hirschsprung's disease.
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PMID:A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. 1032 3