Somatic trinucleotide change encompassing codons 882 and 883 of the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma

Bugalho, MJ; Coelho, I; Sobrinho, LG

doi:10.1530/eje.0.1420573

Cited by 9 publications

(6 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Eight of the fifty-one cases (Table 1, patients 10, 15, 34, 35, 36, 38, 43 and 45) were earlier published by our group (Bugalho et al, 1997(Bugalho et al, , 2000.…”

Section: Patientsmentioning

confidence: 93%

Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

Moura¹,

Cavaco²,

Pinto³

et al. 2009

Br J Cancer

158

124

View full text Add to dashboard Cite

Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10 -16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P ¼ 0.0051) and number of lymph node metastases (P ¼ 0.0017), and presented more often multifocal tumours (P ¼ 0.037) and persistent disease at last control (P ¼ 0.0242) than group 2. Detectable serum calcitonin levels at last screening (P ¼ 0.0119) and stage IV disease (P ¼ 0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk.

show abstract

“…Eight of the fifty-one cases (Table 1, patients 10, 15, 34, 35, 36, 38, 43 and 45) were earlier published by our group (Bugalho et al, 1997(Bugalho et al, , 2000.…”

Section: Patientsmentioning

confidence: 93%

Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

Moura¹,

Cavaco²,

Pinto³

et al. 2009

Br J Cancer

158

124

View full text Add to dashboard Cite

show abstract

“…It is well known that diff erent RET gene mutations show various degrees of transforming activity, in these cases even in diff erent amino acid exchanges at the same codon. Another clinical study describing a somatic trinucleotid change encompassing codons 882 and 883 of the RET proto-oncogene in a patient with sporadic MTC supports a pathogenetic role of mutations at this region [17] . Recommendations for the timing of prophylactic thyroidectomy and the extent of surgery are based upon a model that utilizes genotype-phenotype correlations to stratify mutations into risk levels [6,7] .…”

Section: Discussionmentioning

confidence: 91%

New Mutations in the RET Protooncogene-L881V – Associated with Medullary Thyroid Carcinoma and -R770Q – in a Patient with Mixed Medullar/Follicular Thyroid Tumour

Frank‐Raue¹,

Döhring²,

Scheumann³

et al. 2009

Exp Clin Endocrinol Diabetes

View full text Add to dashboard Cite

Our clinical findings indicate that the L881V mutation may be associated with late-onset nonaggressive disease. If the germline RET R770Q variant has a causative role in the pathogenesis of the mixed medullar/follicular derived histology of the thyroid tumour in the index patient of family 1 has to be proven. The recommendations for prophylactic thyroidectomy in these mutations should be individualized depending on basal and stimulated calcitonin levels until more data are available.

show abstract

“…This mutation has been involved in the initial event of the development of MTC and has a poor prognosis (Zedenius et al, 1995;Romei et al, 1996). Some other somatic missense point mutations as well as small oligonucleotide deletions or insertions in exons 10, 11, 13 and 15 have also been reported in sporadic MTC tumours but with a considerably lower frequency (Marsh et al, 1996;Alemi et al, 1997;Kalinin & Frilling, 1998;Uchino et al, 1999;Bugalho et al, 2000).…”

Section: (Ii) Retmentioning

confidence: 99%

Molecular genetics of thyroid cancer

Rebaї

2016

Genet. Res.

View full text Add to dashboard Cite

The pathogenesis of the development and progression of thyroid cancer (TC) is far from being clear at present. Accumulated evidence suggests that it is a complex polygenic disorder for which genetic factors play an important role in disease aetiology. Here we review the literature to report the genetic variations and alterations that have been described in the aetiology of TC. The functional effects of some mutations and single nucleotide polymorphisms on TC are validated, establishing the role of sequence variations in this cancer. However, large prospective studies are still required to evaluate the diagnostic and prognostic value of these genetic determinants in clinical practice.

show abstract

Somatic trinucleotide change encompassing codons 882 and 883 of the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma

Cited by 9 publications

References 16 publications

Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

New Mutations in the RET Protooncogene-L881V – Associated with Medullary Thyroid Carcinoma and -R770Q – in a Patient with Mixed Medullar/Follicular Thyroid Tumour

Molecular genetics of thyroid cancer

Contact Info

Product

Resources

About