Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

Aghdam, Maryam Nasiri; Abbaszadegan, Mohammad Reza; Tafazoli, Alireza; Aslzare, Mohammad; Mosavi, Zohreh

doi:10.14310/horm.2002.1611

Cited by 3 publications

(4 citation statements)

References 30 publications

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“…This mutation comprised 53% of all detected mutations in this study. The present study showed that mutations in exon 11, especially at codon 634, are commonly observed in the Iranian population, which is consistent with other studies [15][16][17][18][19]. Interestingly, follow-up studies in IR-F25 family showed that a 19-year-old carrier, IV-2, did not manifest any MEN2A phenotypes unlike other carriers.…”

Section: Clinical and Molecular Ndingssupporting

confidence: 93%

“…This variant was predicted to be likely benign by InterVar, benign by polyphen2, disease causing by mutation taster and tolerated with SIFT score 0.43 by SIFT web server (Table 2). [15][16][17][18][19]. It has been stated that mutations at codon 634 are the most frequent mutation in Caucasians [20].…”

Section: Clinical and Molecular Ndingsmentioning

confidence: 99%

“…On the other hand, in this study, p.M918T mutation was another common mutation in sporadic Iranian MTC cases, which is inconsistent with ndings in European populations (16,21). To the best of our knowledge, p.M918T mutation has been reported in two cases and has not been detected in Iranian Azari and other populations [15][16][17][18][19]. Different genetic backgrounds could be the reason of the mentioned con icting results which requires more investigations.…”

Section: Clinical and Molecular Ndingsmentioning

confidence: 99%

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RET Proto-Oncogene Mutational Analysis in Patients With Medullary Thyroid Carcinoma

Damavandi¹,

Javadi-Arjmand²,

Mohajeri-Tehrani³

et al. 2021

Preprint

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Background: The aim of this study was to identify germline mutation of the RET (rearranged during transfection) gene in patients with Medullary Thyroid Carcinoma (MTC) and their first-degree relatives to find pre-symptomatic carriers for possible prophylactic thyroidectomy.Methods and results: We examined all six hot spot exons (exons 10, 11, 13, and 14-16) of the RET gene by PCR and bidirectional sanger sequencing in 45 Iranian patients with MTC (either sporadic or familial form) from 7 unrelated kindreds and 38 apparently sporadic cases. First-degree relatives of RET positive cases were also genotyped for index mutation. Moreover, pre-symptomatic carriers were referred to the endocrinologist for further clinical management and prophylactic thyroidectomy if needed. Overall, the genetic status of all of the participants was determined by RET mutation screening, including 61 affected individuals, 22 pre-symptomatic carriers and 29 genetically healthy subjects. In 37.5% (17 of 45) of the MTC referral index patients, seven distinct RET germline mutations were found, including p.C634R (35.3%), p.M918T (17.6%), p.C634Y (11.8%), p.C634F (5.9%), p.C611Y (5.9%), p.C618R (5.9%), p.C630R (5.9%), p.L790F (5.9%) and an uncertain variant p.V648I (5.9%). Conclusion: RET mutation detection is a promising/golden screening test and provides an accurate pre-symptomatic diagnostic test for at-risk carriers (the siblings and offspring of the patients) to consider prophylactic thyroidectomy. Thus, mutation screening of the RET hot spot exons could be suggested for any MTC patient to find pre-symptomatic RET carriers in their relatives.

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Section: Clinical and Molecular Ndingssupporting

confidence: 93%

Section: Clinical and Molecular Ndingsmentioning

confidence: 99%

Section: Clinical and Molecular Ndingsmentioning

confidence: 99%

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RET Proto-Oncogene Mutational Analysis in Patients With Medullary Thyroid Carcinoma

Damavandi¹,

Javadi-Arjmand²,

Mohajeri-Tehrani³

et al. 2021

Preprint

View full text Add to dashboard Cite

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“…The VHL variant is predicted pathogenic by SIFT and PolyPhen tool and has been reported for its association with pheochromocytoma (CM951287) when RET (rs1799939) has been reported for its association with the disease in ClinVar database. [ 6 ]…”

Section: Case Reportmentioning

confidence: 99%

Stuttering priapism in a pediatric patient with pheochromocytoma-induced thrombocytosis

et al. 2022

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Priapism is an erection of more than 4 h without sexual stimulation. Ischemic priapism may lead to irreversible erectile dysfunction after a long-lasting period. Stuttering priapism is characterized by a pattern of recurrence that may progress to an unrelenting ischemic crisis, which is a urological emergency. Few reports have revealed that priapism is associated with essential thrombocythemia. The reactive thrombocytosis is uncommonly manifested by pheochromocytoma and rarely causes thrombotic events even if the platelet count is extremely high. We presented priapism related to reactive severe thrombocytosis in a 12-year-old male with pheochromocytoma. The cornerstone of care was prompt medical and surgical intervention by a multidisciplinary team approach to save life and preserve erectile function.

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RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant

Damavandi

Vand‐Rajabpour

Javadi-Arjmand

et al. 2021

Journal of Thyroid Research

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Background. The aim of this study was to identify germline mutation of the RET (rearranged during transfection) gene in patients with medullary thyroid carcinoma (MTC) and their first-degree relatives to find presymptomatic carriers for possible prophylactic thyroidectomy. Methods/Patients. We examined all six hot spot exons (exons 10, 11, 13, and 14–16) of the RET gene by PCR and bidirectional Sanger sequencing in 45 Iranian patients with MTC (either sporadic or familial form) from 7 unrelated kindred and 38 apparently sporadic cases. First-degree relatives of RET positive cases were also genotyped for index mutation. Moreover, presymptomatic carriers were referred to the endocrinologist for further clinical management and prophylactic thyroidectomy if needed. Results. Overall, the genetic status of all of the participants was determined by RET mutation screening, including 61 affected individuals, 22 presymptomatic carriers, and 29 genetically healthy subjects. In 37.5% (17 of 45) of the MTC referral index patients, 8 distinct RET germline mutations were found, including p.C634R (35.3%), p.M918T (17.6%), p.C634Y (11.8%), p.C634F (5.9%), p.C611Y (5.9%), p.C618R (5.9%), p.C630R (5.9%), p.L790F (5.9%), and one uncertain variant p.V648I (5.9%). Also, we found a novel variant p.H648R in one of our apparently sporadic patients. Conclusion. RET mutation detection is a promising/golden screening test and provides an accurate presymptomatic diagnostic test for at-risk carriers (the siblings and offspring of the patients) to consider prophylactic thyroidectomy. Thus, according to the ATA recommendations, the screening of the RET proto-oncogene is indicated for patients with MTC.

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Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

Cited by 3 publications

References 30 publications

RET Proto-Oncogene Mutational Analysis in Patients With Medullary Thyroid Carcinoma

RET Proto-Oncogene Mutational Analysis in Patients With Medullary Thyroid Carcinoma

Stuttering priapism in a pediatric patient with pheochromocytoma-induced thrombocytosis

RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant

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