A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

Abstract

We aimed to provide ideas for clinicians, especially radiologists, for the diagnosis of multiple endocrine neoplasia (MEN) syndromes.Background: MEN syndromes include MEN1, MEN2, and MEN4 and usually involve 2 or more endocrine tumors. The MEN syndromes are a group of euchromatic dominant genetic diseases, and the main genes involved include MEN1 (MEN1), RET (MEN2), and CDKN1B (MEN4).Methods: In this article, involving 8 cases (4 cases of MEN1, 2 cases of MEN2A, 1 case of MEN2B, 1 case of MEN4) from our center, we introduced the disease spectrum, clinical manifestations (especially imaging findings), and related genes involved in each type of MEN syndromes. We also discussed the differential diagnosis between MEN and sporadic tumors and emphasized that MEN should be screened and the relevant required examinations. Conclusions:Considering that MEN syndromes involve multiple endocrine gland tumors and nonendocrine organ diseases, it is very important to identify potential patients early and perform multiple examinations on them, including biochemical and multitype, and multisite imaging examinations according to the disease spectrum of each type. Considering that this is a group of genetic diseases, both interviewing patients about their family history and genetic testing are also very important. Only in this way can a comprehensive and accurate diagnosis be made, enabling patients to receive appropriate treatment and improve their prognosis.

MEN2B Masquerading as Postural Orthostatic Tachycardia Syndrome

“…The diagnosis of MEN2B is based on these distinctive findings and the RET mutation or autosomal dominant familial inheritance of MEN2B. 4 …”

Multiple endocrine neoplasia type 4: a new member of the MEN family

“…A systematic review was performed in accordance with the PRISMA 2020 criteria ( 29 ). Figure 1 provides the PRISMA flow chart ( 8 , 30 , 31 , 32 ). The search terms ‘MEN4’, ‘MENX’, and ‘CDKN1B’ were used.…”

“…Figure 1 provides the PRISMA flow chart [8,30,31,32]. The search terms "MEN4", "MENX" and "CDKN1B" were used.…”

“…Five different types of MEN have been described so far: MEN1, MEN2 (formerly MEN2A), MEN3 (formerly MEN2B), the recently identified MEN4 ( 1 , 2 , 3 , 4 ), and MEN5 ( 5 , 6 ). The penetrance is varied and the phenotypic expression is heterogeneous, thereby leading to different manifestations of the syndrome even within members of the same family ( 2 , 5 , 7 , 8 ).…”

Neoplasia endocrina múltiple tipo 2B: un enfoque de diagnóstico genotipo-fenotipo y abordaje terapéutico

“…MEN 2B se debe a mutaciones de novo de la línea germinal activante autosómica dominante de este protooncogén RET (12).…”