An unusual genotype-phenotype correlation in MEN 2 patients: Should screening for RET double germline mutations be performed to avoid misleading diagnosis and treatment?

摘要

We read with particular interest the letter by Conzo et al. published in a recent issue of Clinical Endocrinology.1 In an attempt to identify new and possibly undetected RET mutations at the time of first diagnosis, the authors performed further genetic testing on DNA extracted from peripheral blood in a patient bearing a RET double mutation (p.C634R and p.A640G) who had an unusual clinical course of disease. In addition to the two previously described germline RET mutations in exon 11, the analysis revealed a third novel p.M700L RET mutation within exon 11 of RET gene. They share the lessons they learned and raise several interesting points.