Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The medullary thyroid carcinoma (MTC) occurs in the two major forms, the sporadic medullary carcinoma (SMTC) and hereditary medullary carcinoma, to which belong familial form (FMTC) and the element of Multiple Endocrine Neoplasia Syndrome MEN 2A and 2B. The method-of-choice of treatment is total thyroidectomy with following radiotherapy in selected cases. Among the follow-up methods, there are two used the most frequently: the pentagastrin and omeprazole stimulation test of calcitonin (CT), and CEA antigen assay. The aim of this study is to evaluate usefulness of plasma CT, CEA and AFP assay in the early detection of relapse or metastasis of MTC. 18 patients (14 females and 4 males) were investigated. The following procedures were performed in all the patients: plasma CT assays in the basal conditions and after stimulation tests, CEA and AFP. The results were analysed according to TNM staging and neck USG results. Our conclusion is that calcitonin stimulation tests, and CEA assays are useful methods to estimate the presence of relapse or metastases in the patients after surgical treatment due to MTC. Assays of plasma AFP concentration are not useful in a follow-up of patients operated on MTC.
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PMID:[Usefulness of serum calcitonin, CEA and AFP assays in the early detection of medullary thyroid carcinoma relapse]. 1242 67

In hereditary medullary thyroid carcinoma (MTC), recommendations regarding timing and extent of surgery are mainly based on the data of patients with the codon 634 RET mutation, which is the most often affected codon. Little is known about whether these recommendations may also be applied to patients with less common RET mutations. We ascertained the data from 140 patients with FMTC/MEN2A-related RET mutation not affecting codon 634 who have been treated at three specialized centers. The several RET mutations found affected codons 611 (n = 17), 618 (n = 22), 620 (n = 17), 768 (n = 9), 790 (n = 24), 791 (n = 21), 804 (n = 23), and 891 (n = 7). For each codon, the age of the youngest patient with MTC only (41, 7, 18, 29, 13, 47, 20, and 15 years, respectively), MTC with lymph node metastases (46, 24, 21, 34, 46, 47, 50, and 76 years, respectively), and MTC with distant metastases (52, 69, 43, 68, 57, - , - , and 75 years, respectively) was determined. All patients with lymph node metastases had elevated basal calcitonin levels. Based on these data, a more individual recommendation regarding timing and extent of surgery can be given. Because neither gender nor the type of nucleotide substitution for a specific codon appeared to have a significant influence on the age of onset, this recommendation should be based on the affected codon, the age of the patient, and the calcitonin level. Recurrent laryngeal nerve palsy (n = 6) and hypoparathyroidism (n = 3) were rather rare and were found only in patients older than 30 and 43 years, respectively, giving evidence that surgery in young patients can be performed safely.
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PMID:Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634. 1551 81

MTC is a rare neuroendocrine thyroid tumour accounting for 3% to 10% of all thyroid malignancies. It can occur in a sporadic and a hereditary clinical setting. Hereditary MTC may either occur alone (familial MTC, FMTC) or as part of multiple endocrine neoplasia (MEN) type 2A, or MEN 2B. These disorders are due to germline mutations in the RET (REarranged during Transfection) gene. In carriers of MEN 2B-associated RET mutations, prophylactic thyroidectomy is indicated before the first year of life. In the case of MEN 2A-associated germline RET mutations with a high-risk profile, total thyroidectomy is warranted before the age of 2 years and certainly before the age of 4 years. At that age the risk of invasive MTC and metastases is acceptably low. Depending on the type of RET mutation, thyroidectomy can take place at an older age in patients with a lower risk profile. In case of elevated basal or stimulated serum calcitonin, preventive surgery including total thyroidectomy and central compartment dissection should be performed regardless of age. When MTC presents as a palpable tumour, total thyroidectomy should be combined with extensive lymph node dissection of levels II-V on both sides and level VI to prevent locoregional recurrences.
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PMID:An introduction to managing medullary thyroid cancer. 2022 15

The most common hereditary thyroid cancer is medullary thyroid cancer, which can be associated with MEN 2A, MEN 2B, or FMTC. In these patients, prophylactic thyroidectomy is recommended; timing of surgery is dependent on the specific RET mutation. Prophylactic thyroidectomy should include total thyroidectomy and accompanying central compartment neck dissection should be done for patients at high risk for micro-metastatic disease only. Surgery should be performed at tertiary care institutions by high-volume thyroid surgeons.
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PMID:Prophylactic thyroidectomy: who needs it, when, and why. 2496 42