Additional Endocrinopathies in a Large Family with Familial Medullary Thyroid Carcinoma: Implications for Treatment and Follow-Up

2015 ◽  
pp. 102-107
Author(s):  
C. Schaap ◽  
A. M. J. Moers ◽  
J. K. Ploos van Amstel ◽  
J. W. M. H�ppener ◽  
C. J. M. Lips
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Large Family ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma

RET oncogene mutations in a large Korean kindred with familial medullary thyroid carcinoma

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 6066-6066
Author(s):  
Y. Lee ◽  
H. Park ◽  
J. Jung ◽  
Y. Lim ◽  
S. Uchino
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Germ Line ◽  
Radical Neck Dissection ◽  
Gene Mutations ◽  
Large Family ◽  
Carrier Status ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma ◽  
The Family

6066 Background: Familial medullary thyroid carcinoma (FMTC) is related to germ-line mutations in the RET proto-oncogene. The mutations concern mainly cystein residues in exons 10 and 11, whereas noncystein mutations in exons 13–16 are rare. These mutations have been recorded in the different populations, but to date there is no corresponding study in Korean families. In this study, we identify the RET mutations in the Korean family with FMTC and propose therapeutic approach in managing the disorder. Methods: The large family consists of 4 generations with a total of 32 individuals. There was a history of MTC in five members of the family. The index case was a 67-yr- old woman who underwent total thyroidectomy and both modified radical neck dissection in our hospital at the age of 48. We analysed exons 10, 11, 13, 14, 15 and 16 in index patients using DNA sequencing. Twenty-nine subjects from the family were clinically assessed and subsequently molecularly analysed for the presence of RET gene mutations. Results: We have found a missense TGC?AGC mutation at codon 618 in Exon 10. This transversion leads to the substitution of cystein with serin. The mutation was detected in all five MTC patients as well as in 6 asymptomatic relatives. The mutation shows a wide clinical heterogenecity, as there are carrier patients with age of diagnosis ranging from 9 to 64 years. Conclusions: It is likely that the mutation causes FMTC, because no other mutation was found in RET. This study showed 100% accordance between presence of the disease and gene carrier status is reported. Total preventive thyroidectomy has been recommended in all carriers of RET genetic defects. No significant financial relationships to disclose.

Familial medullary thyroid carcinoma: Not a distinct entity? Genotype-phenotype correlation in a large family

1996 ◽  
Vol 101 (6) ◽  
pp. 635-641 ◽  
Author(s):  
André M.J. Moers ◽  
Rudy M. Landsvater ◽  
Cees Schaap ◽  
Joke M. Jansen-Schillhorn van Veen ◽  
Irene A.J. de Valk ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Large Family ◽  
Phenotype Correlation ◽  
Distinct Entity ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma ◽  
Genotype Phenotype Correlation

scholarly journals Management of Advanced Medullary Thyroid Carcinoma with Vandetanib: Case Series

2021 ◽  
Vol 5 (1) ◽  
pp. 01-07
Author(s):  
Andrés Flórez R
Keyword(s):  
Partial Response ◽  
Adverse Events ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Stable Disease ◽  
Case Series ◽  
Medullary Thyroid ◽  
The Mean ◽  
Grade 3

Objective: To describe the tumor response and adverse events in patients with advanced medullary thyroid carcinoma (MTC) treated with vandetanib at the National Cancer Institute in Bogotá, Colombia. Materials and Methods: Case series including five patients with advanced MTC treated with vandetanib from April 2011 to August 2018 and a minimum follow-up of 6 months. Results: 5 patients met the inclusion criteria, including 3 women. The mean age was 49 years. A total of 4 patients underwent total thyroidectomy prior to starting vandetanib. The main indication for vandetanib was progression of liver metastasis (4 patients). Regarding treatment response, 3 patients presented stable disease, 1 patient showed partial response, and 1 had disease progression. The mean treatment duration was 16.5 months. Grade 3 or 4 adverse events were observed in three patients, 1 with diarrhea, 1 with hypertension, and 1 with rash. All symptoms improved with dose reduction or temporary suspension of vandetanib. Conclusions: The management of advanced MTC with vandetanib allows for prolonged disease control (stable disease or partial response). Although adverse events are frequent, most are mild and severe cases are manageable.

Circulating Neuron-Specific Enolase in Medullary Thyroid Cancer

1986 ◽  
Vol 1 (2) ◽  
pp. 85-88 ◽  
Author(s):  
Furio Pacini ◽  
Rossella Elisei ◽  
Stefano Anelli ◽  
Lucia Gasperini ◽  
Ernestina Schipani ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Time Course ◽  
Neuron Specific Enolase ◽  
High Serum ◽  
Large Tumor ◽  
Medullary Thyroid ◽  
The Mean ◽  
Metastatic Involvement

The utility of determining circulating neuron-specific enolase (NSE) in medullary thyroid carcinoma was assessed in 25 patients followed up for a mean period of 45.6 months. In 5 patients tested before any treatment serum NSE concentrations were in the normal range. After total thyroidectomy abnormally high serum NSE concentrations (more than 9.8 ng/ml) were found in 1/3 patients with normal calcitonin (CT) in remission, in 2/10 with elevated CT levels but no evidence of disease and in 9/12 with elevated CT levels and documented metastases. The mean (± SD) NSE value in this last group was 12.0 ± 12.6 ng/ml, significantly higher than in the other groups (p < 0.005). The time course of serum NSE in patients with long follow-up seems to indicate that serum NSE rises when a large tumor mass is present and usually parallels the pattern of circulating CT. Effective treatment of the metastases is usually followed by reduction of serum NSE. Thus, serum NSE can serve as an additional humoral marker for medullary thyroid carcinoma, its elevation being associated with important metastatic involvement and with a poor prognosis of the tumor.

Follow-up of patients with medullary thyroid carcinoma

1997 ◽  
Vol 29 (1) ◽  
pp. 18-21
Author(s):  
J. Rendl ◽  
C. Reiners
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Medullary Thyroid
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