Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2

Frontiers in Endocrinology

Christian Godballe¹  Anna Reimer Hansen²  Line Borgwardt²  Morten Møller Poulsen³  Maria Rossing³  Filipe G. Vieira⁴  Åse Krogh Rasmussen⁵  Jes Sloth Mathiesen⁶ 

[1] Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark;Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark;Department of Clinical Research, University of Southern Denmark, Odense, Denmark;Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark;Department of Endocrinology and Metabolism, Copenhagen University Hospital, Copenhagen, Denmark;;Department of Otorhinolaryngology, Head &

关键词: multiple endocrine neoplasia type 2;    medullary thyroid cancer;    RET;    Leu56Met;    Genetics;   

DOI  :  10.3389/fendo.2021.764512

来源: DOAJ

【 摘 要 】

Activating variants in the receptor tyrosine kinase REarranged during Transfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was recently reported in two patients with medullary thyroid cancer (MTC). The presence of a pheochromocytoma in one of the patients, suggested a possible pathogenic role of the variant in MEN 2A. Here, we present clinical follow up of a Danish RET Leu56Met cohort. Patients were evaluated for signs of MEN 2 according to a set of predefined criteria. None of the seven patients in our cohort exhibited evidence of MEN 2. Furthermore, we found the Leu56Met variant in our in-house diagnostic cohort with an allele frequency of 0.59%, suggesting that it is a common variant in the population. Additionally, none of the patients who harbored the allele were listed in the Danish MTC and MEN 2 registries. In conclusion, our findings do not support a pathogenic role of the Leu56Met variant in MEN 2.

【 授权许可】

Unknown