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

Medullary carcinoma of the thyroid gland is a feature of multiple endocrine neoplasia, type IIb (MEN IIb). The cancer frequently gives rise to metastases in early life. Marfanoid habitus and virtually pathognomic mucosal ganglioneuromas, often situated on the tongue, enable early diagnosis. These stigmata should alert the clinician to the possibility of MEN IIb before medullary carcinoma is clinically manifest. We now believe that it is reasonable to perform a total thyroidectomy in children with the typical physical appearance of this syndrome regardless of age since medullary carcinoma of the thyroid gland appears in almost every case. Calcitonin, a hormone secreted by the C-cells, serves as a plasma tumor marker. Intravenously administered, pentagastrin is a potent secretagogue which is very useful in the early diagnosis of either primary or recurrent medullary carcinoma. With this pentagastrin test, a laboratory screening program is possible allowing the clinician, specialist, to recognize the syndrome.
 ...
PMID:[Life saving glance diagnosis in type IIb multiple endocrine neoplasia]. 134 49

Medullary thyroid carcinoma (MTC) develops in all patients with multiple endocrine neoplasia type IIb (MEN IIb), a rare syndrome that either occurs sporadically or is inherited in an autosomal dominant pattern. The MTC in patients with MEN IIb has been reported to be biologically aggressive with onset at a young age and rapid progression as evidenced by widespread metastases and death, frequently in the teenage years. Seven children, aged 2 to 11 years (mean, 7 years), from three kindreds with MEN IIb were evaluated for evidence of tumor recurrence 3 to 10 years following thyroidectomy. In one child, age 11, a thyroid mass was palpable preoperatively. However, in the remaining six children (aged 2 to 10 years), the diagnosis of MTC was established by an increased concentration of plasma calcitonin (CT), either basally or following pentagastrin (Pg) stimulation. All patients underwent total thyroidectomy with removal of central lymph nodes from the neck. At the time of surgery, six children were found to have bilateral macroscopic MTC, five without and one with cervical metastases. One child (age 2 years) had C-cell hyperplasia, a premalignant precursor of MTC. Currently, five of the seven children are without evidence of recurrent disease clinically and have normal plasma CT levels (less than 0.3 ng/mL) following calcium (Ca) and Pg stimulation 3, 3, 10, 10, and 10 years after thyroidectomy. Two of the seven children have biochemical evidence of residual MTC.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Evaluation of children with multiple endocrine neoplasia type IIb following thyroidectomy. 197 72

Patients with palpable medullary thyroid carcinoma (MTC) have lymph node metastases in 90% of cases. In most series such patients continue to have elevated serum calcitonin (CT) levels after surgery indicating residual tumor tissue. We attempted a microdissection technique for the treatment of MTC. "Micro" refers not to a small incision or a limited exploration but to a more safe operation associated with good lighting and magnification and minimal bleeding. This technique was used in a 13-year-old girl with multiple endocrine neoplasia type 2B (MEN 2B). The prognosis for MTC in MEN 2B is worse than for sporadic MTC and the MTC of MEN 2A. Every possible effort should be made to remove all tumor tissue in MEN 2B patients with MTC. In this case the pathologist found bilateral MTC and metastases in eight of 129 lymph nodes removed. The preoperative stimulated CT levels, which were markedly elevated, decreased to near normal postoperatively.
 ...
PMID:Surgical treatment of medullary thyroid carcinoma in a thirteen-year-old girl with MEN 2B. 257 53

Children with multiple endocrine neoplasia type 2 (MEN2) often develop medullary carcinoma of the thyroid (MCT) or its precursor, C-cell hyperplasia. Survival results are improved if malignancy is diagnosed early from the results of plasma immunoreactive calcitonin (iCT) measurement. The effect of early detection and thyroidectomy in children with MEN2 syndrome was determined by reviewing the experience between 1975 and 1985. Seventeen children with MEN2 who were 12 years old or younger underwent a total thyroidectomy for MCT or C-cell hyperplasia. iCT was measured in all patients preoperatively and postoperatively. Of the 17 children, 14 (82%) had MEN2a and 3 (18%) had MEN2b. There were 14 (82%) female and three (18%) male patients; their mean age was 6.97 years (range 1.5 to 12 years). In all patients, the diagnosis of MCT was made from initial elevated levels of iCT after stimulation with pentagastrin. Three patients had clinical evidence of disease preoperatively. All patients underwent a total thyroidectomy and lymph nodes were removed from the central zone; a neck dissection was performed in the three with clinically obvious disease. MCT with C-cell hyperplasia was found in 11 children and C-cell hyperplasia alone in six. Of the 11 with carcinoma, eight had bilateral disease and three unilateral. Six children had bilateral C-cell hyperplasia. All 17 children were alive and feeling well at the time of this report; however, three had evidence of metastatic disease according to iCT measurements. None of the children had recurrent nerve injuries; one had evidence of hypoparathyroidism.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Results of early thyroidectomy for medullary thyroid carcinoma in children with multiple endocrine neoplasia type 2. 287 88

Three patients with the multiple endocrine neoplasia syndrome type 2b (MEN 2b) and a good prognosis are described. During a follow-up period of 41 to 84 months, only little progression of metastases of medullary carcinoma of the thyroid was observed. In one of the patients, liver metastases of medullary carcinoma of the thyroid were already present in biopsy specimens taken 22 years earlier. In two patients bilateral pheochromocytomas were completely removed. These observations show that, in contrast to the general view, the clinical course of MEN 2b can be as indolent as that of MEN 2a or sporadic forms of the tumors involved, despite the presence of metastases. This may indicate that factors other than the type of inheritance contribute to the outcome of the disease.
 ...
PMID:Multiple endocrine neoplasia type 2b with a good prognosis. 288 42

In an evaluation of 213 patients from 15 kindreds with familial medullary thyroid carcinoma (MTC), we detected 41 subjects from two kindreds (L and O) who had MTC but no extra-thyroidal manifestations (hyperparathyroidism, phaeochromocytomas or mucosal neuromas) of multiple endocrine neoplasia (MEN) type IIa or IIb. In screening 178 members of the L and O kindreds, we found no evidence that any of them had died from MTC. To assess whether the malignancy was relatively indolent in these families, 20 selected subjects from the two kindreds were compared with 33 MEN IIa subjects. Both groups had clinically occult disease which was diagnosed biochemically by documenting elevated plasma calcitonin (CT) levels following stimulation with intravenous calcium and pentagastrin. There were no differences in the peak stimulated plasma CT levels at the time of diagnosis (1055 +/- 236 pg/ml versus 1096 +/- 191 pg/ml) or the incidence of regional lymph node metastases (0/20 versus 1/33) in the two groups. The mean age at diagnosis, however, was significantly higher in patients of the L and O kindreds than in patients with MEN IIa (43.1 +/- 3.4 years versus 21.1 +/- 2.2 years; P less than 0.001) indicating that in the two kindreds the MTC either developed at a later age or grew more slowly. This study demonstrates that MTC may occur in a familial pattern distinct from its presentation as MEN IIa or MEN IIb. In this setting it appears to be the least aggressive form of MTC yet described.
 ...
PMID:Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. 369 57

Medullary thyroid carcinoma is a feature of multiple endocrine neoplasia, type 2b (MEN 2b). The cancer frequently gives rise to metastases in early life and is therefore often incurable by age 4 years. Because MEN 2b frequently appears as a spontaneous mutation, and because the characteristic phenotypic features are absent in the early life of most affected patients, both MEN 2b and its medullary thyroid cancer may elude diagnosis for years. Total thyroidectomy is the only established treatment for medullary thyroid carcinoma. The timing of thyroidectomy must take into account risks and benefits in small children, but the operation may well not cure after age 4 years. Thyroidectomies in two of our patients were accomplished at ages 2 and 2 1/2 years; no complications were encountered, and no metastatic disease was found in either child. Feeding difficulties--poor suck to the point of failure to thrive--were present in the neonatal periods of seven of our nine patients who had MEN 2b. Infants with feeding difficulties should be examined periodically for the onset of pathognomonic features of MEN 2b, particularly the ganglioneuromas, which usually appear before age three years.
 ...
PMID:Early diagnosis and thyroidectomy in multiple endocrine neoplasia, type 2b. 613 Jan 34

MEA IIb is a combination of C-cell carcinoma of the thyroid, phaeochromocytoma, multiple neuromas and a marfanoid habitus. A hyperplasia of the parathyroid cannot be found in most of the patients with this variant of Sipple's syndrome. In a 30-year-old woman, a MEA IIb could be observed over 15 years. Although primary surgery of the C-cell-carcinoma was insufficient, metastases were not found following two more surgical interventions in spite of elevated serum calcitonin. A phaeochromocytoma was not found, too. The reported case is compared with the literature.
 ...
PMID:[Multiple endocrine adenopathy type IIb. 15-years' observation of a case]. 613 18

Multiple endocrine neoplasia, type 2b (MEN 2b) is a disorder characterized by a distinct phenotype and a predisposition for medullary thyroid carcinoma (MTC) and pheochromocytoma. Two siblings aged 3 and 6 years with MEN 2b, who had elevated plasma calcitonin levels suggesting the presence of MTC are described. Microscopic foci of MTC were found in their thyroid glands and the glands were removed. In the younger child, a metastatic focus was present in a cervical lymph node. Of 12 previously reported children with MEN 2b and MTC who were less than 10 years of age at diagnosis, five had metastases. One of the present patients is the youngest described with this complication. The high frequency of metastases in very young patients with this syndrome has not been emphasized previously. These findings indicate the need for early diagnosis of MEN 2b and the importance of thyroidectomy at the earliest possible age when MTC is suspected by calcitonin screening tests.
 ...
PMID:Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. 709 94

Thyroid cancer is rare in childhood and consists of several different histopathologic groups with widely varying clinical behavior. Major categories include differentiated, medullary, and anaplastic thyroid cancer. Non-Hodgkin's lymphoma and various sarcomas also can arise in the thyroid. This article discusses differentiated and medullary thyroid cancer in childhood and adolescence. Differentiated thyroid carcinoma is divided into three subtypes: papillary, papillary with follicular elements, and follicular. Medullary tumors may occur in isolation but more frequently are associated with one of the multiple endocrine neoplasia syndromes (MEN). A paradoxical observation concerning patients with differentiated thyroid cancer is that 70% to 80% present with regional lymph node involvement, and more than 20% have distant metastases at diagnosis. However, survival rates in series with median follow-ups of 10 to 20 years have been 90% to 100%. These data have implications for the surgical management of pediatric patients with differentiated thyroid cancer. The cellular and genetic factors that underlie this paradoxical behavior are not understood. Management of children with medullary thyroid cancer was revolutionized by the identification of specific mutations in the ret oncogene that predict for multiple endocrine neoplasia syndromes. This has allowed sensitive and specific diagnosis based on analysis of the patient's white blood cells. Because this leads to earlier diagnosis, total thyroidectomy can be performed at a much earlier age than if the increase in serum calcitonin was used to identify C-cell hyperplasia or early carcinoma. At present, genetic testing should be performed at birth in children suspected of having the MEN IIb syndrome and no later than 1 year of age for those with possible MEN IIa. If specific ret gene mutations are noted, total thyroidectomy is recommended as soon as the diagnosis is established. For MEN IIa patients, thyroidectomy probably should be performed before 5 years of age, whereas patients with MEN IIb may require surgery during the first 6 months to 1 year of life.
 ...
PMID:Differentiated and medullary thyroid cancer in childhood and adolescence. 911 74


1 2 3 Next >>