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Both multiple endocrine tumour neoplasia type 2A and familial medullary thyroid carcinoma are attributed to germline mutations of the RET proto-oncogene. There has been no MTC-related deaths in this family until date, and the clinical course of medullary thyroid carcinoma in this family is characterised by a rapid onset and progression of the disease. According to the International Union Against Cancer's TNM protocol, four out of 11 patients who underwent thyroidectomy were classified as pT1, four as pT2, four as pT2, and one as C-cell hyperplasia. One patient had to be hospitalized for the second time due to cervical and mediastinal lymph node metastasis, one patient had to be hospitalized for the second time. Pentagastrin stimulation studies are performed annually in the four and fifth generation's GCs; one non-operated GC has refused any further inquiries; seven non-operated GCs of the fourth and fifth generation are regularly monitored; one non-operated GC has refused any further inquiries.
Source link: https://doi.org/10.1530/eje.0.1440467
Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma have been associated with multiple mutations in the RET proto-oncogene. Fig. Germline's article: Abstract Germline Point mutations in the RET proto-oncogene are linked to multiple endocrine tumors and familial medullary thyroid carcinoma. Somatic point mutations of RET have been reported in a subset of sporadic thyroid carcinomas, on the other hand. We analyzed tumor and blood DNA of thirteen apparently sporadic MTC patients for mutations in RET exons 10, 11, 13, 15, and 16 to see whether they had true sporadic tumors or occult germline mutations, whether they had true sporadic tumors or de novo or occult germline mutations. In one case, codon 630 in one case and codon 634 in another. In seven patients, a somatic mutation confirmed the previous medical diagnosis of sporadic medullary thyroid carcinoma; in one of them, we found a hitherto undescribed somatic point mutation at codon 630.
Source link: https://doi.org/10.1530/eje.0.1360423
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