A rare germline allelic variant с.2657 G>A (p.Arg886Gln) in the RET protooncogene in a patient with medullary thyroid carcinoma
https://doi.org/ 10.25557/2073-7998.2018.11.53-55
Abstract
We report a rare germline missense variant in the RET protooncogene found in a 55-year-old woman with medullary thyroid carcinoma (MTC). Calcitonin before surgery was 400 pg/ml (N = 2-6 pg/ml). Postoperative calcitonin was 0.45 pg/ml. Pheochromocytoma and hyperparathyroidism were excluded. Sanger sequencing of eight exons (5, 8, 10, 11, 13-16) (peripheral blood-derived genomic DNA) of the RET gene identified the heterozygous germline missense variant p.Arg886Gln (exon 15). But its clinical significance has not yet been determined. The proband`s parents were not available. In the control group we only found wild-type alleles.
About the Authors
F. A. Amosenko
Research Centre for Medical Genetics; N.N. Blokhin National Medical Research Center of Oncology
Russian Federation
Russian Federation
N. V. Ryadninskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. N. Loginova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. Roman SA, Lin R, Sosa JA Prognosis of medullary thyroid carcinoma: demographic, clinical and pathologic predictors of survival in 1252 cases. Cancer. 2006 107(9):2134-2142.
2. Kouvaraki MA, Shapiro SE, Perrier ND et al. RET proto-oncogene, a review and up-date of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid. 2005 15(6): 531-544.
3. Eng C, Clayton D, Schuffenecker I et al. The relationship betweenspecific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. YAMA. 1996 276(19): 1575-1579.
4. De Groot JW, Links TP, Plukker JT et al. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr. Rev. 2006 27(5): 535-560.
5. Margraf RL, Crockett DK, Krautscheid PM et al. Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN 2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum. Mutat. 2009 30: 548-556.
6. Prazeres H, Couto JP, Rodrigues et al. In vitro transforming potential, Intracellular signaling properties, and sensitivity to a kinase inhibitor (sorafenib) of RET protooncogene variants Glu511Lys, Ser649Leu, and Arg886Trp. Endocrine-Related Cancer. 2011 18:401-412. Doi: 10.1530/ERC -10-0258.
Review
For citations:
Amosenko F.A., Ryadninskaya N.V., Loginova A.N., Polyakov A.V. A rare germline allelic variant с.2657 G>A (p.Arg886Gln) in the RET protooncogene in a patient with medullary thyroid carcinoma. Medical Genetics. 2018;17(11):53-55. (In Russ.) https://doi.org/ 10.25557/2073-7998.2018.11.53-55
Views:
642
Email this article 