Molecular Analysis of the RET Proto-Oncogene Key Exons in Patients with Medullary Thyroid Carcinoma: A Comprehensive Study of the Iranian Population

Alvandi, Ehsan; Akrami, Seyed Mohammad; Chiani, Mohsen; Hedayati, Mehdi; Nayer, Babak Noori; Tehrani, Mohammad Reza Mohajeri; Nakhjavani, Manouchehr; Pedram, Mehrdad

doi:10.1089/thy.2010.0267

Cited by 37 publications

(28 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Results presented by M. Hedayati et al in the current issue, in addition to those previously presented by Alvandi et al [18], are illustrative of the mutational profile observed among Iranian patients with MTC.…”

supporting

confidence: 78%

Thyroid Oncology

Bugalho

Wohllk

Hoff

et al. 2011

Journal of Thyroid Research

View full text Add to dashboard Cite

supporting

confidence: 78%

Thyroid Oncology

Bugalho

Wohllk

Hoff

et al. 2011

Journal of Thyroid Research

View full text Add to dashboard Cite

“…the Czech Republic they represent 21.7% (23/106) of MTC patients (20,25). The relevant percentage in Spain is 22.8% (26/114) (22).…”

Section: European Journal Of Endocrinologymentioning

confidence: 95%

Genetic screening of patients with medullary thyroid cancer in a referral center in Greece during the past two decades

Papathoma

Garofalaki

et al. 2015

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective: Mutations in the RET gene are responsible for hereditary medullary thyroid cancer (MTC) and may vary between ethnic groups. We report the spectrum of mutations detected in patients with MTC in a referral center in Greece. Patients and methods: Screening for RET mutations was performed in 313 subjects from 188 unrelated families: 51 patients had clinical suspicion for familial disease, 133 were apparently sporadic, four patients had only C cell hyperplasia, and 125 were family members. Exons 8, 10, 11, and 13-16 were screened. Results: A total of 58 individuals (30.85%) were RET mutations carriers, 120 (63.8%) were finally classified as sporadic, 13 apparently sporadic cases (9.8%) were identified with RET mutation: ten carried the exon 8 at codon 533 mutation (previously reported), two the exon 14 at codon 804 mutation, and one the exon 13 at codon 768 mutation. Six patients (3.19%) with clinical features of multiple endocrine neoplasia type 2A and negative for RET mutations were classified as 'unknown cause'. The mutations of hereditary cases were as follows: 21 cases (36.2%) in exon 8 codon 533, 19 (32.8%) in exon 11 codon 634, nine (15.5%) in exon 10, five (8.6%) in exon 16, three (5.2%) in exon 14 codon 804, and one in exon 13 codon 768 (1.7%). Conclusion:The spectrum of RET mutations in Greece differs from that in other populations and the prevalence of familial cases is higher. The exon 8 (Gly533Cys) mutation was the most prevalent in familial cases unlike other series, followed by exon 11 (codon 634) mutations which are the most frequent elsewhere. The wide application of genetic screening in MTC reveals new molecular defects and helps to characterize the spectrum of mutations in each ethnic group.

show abstract

“…Interestingly, a very high incidence of C634G germline mutation (5 cases out of 43) was observed in Iranian patients with hereditary MTC, indicating that the observed C634G might represent a founder effect [22]. However, another study also of Iranian patients with hereditary MTC published in the same year did not report any C634G mutations, which may be related to the different genetic background of the patients involved in the study [21].…”

Section: Test (Units)mentioning

confidence: 89%

“…Postoperative Levels of Plasma Fractionated Free Metanephrines few cases with C634G mutations described in Germany [13,14], the Netherlands [13,15], Italy [16,17], Romania [18], India [19] and Iran [20,21], but mainly among patients with hereditary MTC or MEN2A without pheochromocytoma. Interestingly, a very high incidence of C634G germline mutation (5 cases out of 43) was observed in Iranian patients with hereditary MTC, indicating that the observed C634G might represent a founder effect [22].…”

Section: Test (Units)mentioning

confidence: 99%

A Rare Case of De novo C634G Germline Mutation of the RET Proto-Oncogene in a Patient With MEN 2A Syndrome With Aggressive Pheochromocytoma

Pop

2012

J Endocrinol Metab

View full text Add to dashboard Cite

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal inherited disorder induced by mutations in the RET proto-oncogene. It is characterized by medullary thyroid carcinoma (MTC), accompanied in half of cases by pheochromocytoma and less frequently, by primary hyperparathyroidism. The aim of the study was to investigate a clinical case of a MEN 2A syndrome consisting of bilateral aggressive pheochromocytomas and MTC with locoregional lymph node invasion caused by a rare de novo germline mutation in the RET proto-oncogene (Cys634Gly). We reported herein a 42-year-old man presented with hypertension refractory to various antihypertensive drug regimens administered over the preceding 3 years. Abdominal computed tomography scan showed a large right adrenal mass, and a smaller left adrenal nodule. Comprehensive biochemical analyses (24-hour urinary catecholamines and metabolites) confirmed the diagnosis of pheochromocytoma. 123I-metaiodobenzylguanidine scintigraphy revealed uptake in the left inferior thyroid nodule. Left thyroid ultrasound-guided fine needle aspiration established the diagnosis of MTC. The patient first underwent open right adrenalectomy, and 2 months later, total thyroidectomy with central neck compartment lymph node dissection. Screening for hyperparathyroidism was negative. On followup, the patient demonstrated no biochemical abnormalities, or clinical complaints. Genetic testing identified a point mutation in the RET proto-oncogene, confirming the diagnosis of MEN 2A. This missense mutation, located in exon 11, resulted in the replacement of a cysteine 634 residue with glycine.To the best of our knowledge, this is the first MEN 2A case reported with de novo Cys634Gly RET germline mutation in North America, and also worldwide with regard to the aggressiveness of this genotypic variant.

show abstract

Molecular Analysis of the RET Proto-Oncogene Key Exons in Patients with Medullary Thyroid Carcinoma: A Comprehensive Study of the Iranian Population

Cited by 37 publications

References 38 publications

Thyroid Oncology

Thyroid Oncology

Genetic screening of patients with medullary thyroid cancer in a referral center in Greece during the past two decades

A Rare Case of De novo C634G Germline Mutation of the RET Proto-Oncogene in a Patient With MEN 2A Syndrome With Aggressive Pheochromocytoma

Contact Info

Product

Resources

About