A patient with MEN1 typical features and MEN2-like features.
Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation inMEN1, no mutation inCDKN1B(p27) and noRETmutation, but had bothRETpolymorphisms Gly691Ser and Arg982Cys. This is the first case report of a combination of typical clinical findings of MEN1 harboring a germlineMEN1mutation and the MEN2-like phenotype with negative fullRETgene analysis of pathogenic variants. Possible explanations include a previously unrecognized phenotype-genotype association or the influence of potential phenotypic modifyingRETvariants. Furthermore, the combination observed in this patient may point to a single molecular pathway, and supports the possibility of as yet unrecognized connections between the molecular pathways for MEN1/menin protein and MEN2/RET protein.
Division of Endocrinology, Diabetes & Metabolism, Miller School of Medicine, University of Miami, Miami, FL, USA; National Institute of Dental & Craniofacial Research (NIDCR), NIH, Bethesda, MD, USA.
Diala
D
El-Maouche
National Institute of Diabetes & Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
James
J
Welch
National Institute of Diabetes & Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
Sunita K
SK
Agarwal
National Institute of Diabetes & Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
Lee S
LS
Weinstein
National Institute of Diabetes & Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
William F
WF
Simonds
National Institute of Diabetes & Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
Stephen J
SJ
Marx
1132delG; G691S; MEN1; MEN2; MEN4; MENX; R982C; multiple endocrine neoplasias