Uncommon tumors in multiple endocrine neoplasia (MEN) type 1: Do they have a relationship with the prognosis of these patients?

Febrero, Beatríz; Segura, Pedro Pérez; Ruiz-Manzanera, Juan José; Teruel, Eva; Ros, I.; Rı́os, Antonio; Hernández, A.M.; Rodrı́guez, José Manuel

doi:10.1007/s40618-020-01414-2

Cited by 4 publications

(17 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, like angiofibromas and collagenomas, the exact prevalence is difficult to ascertain due to the lack of large studies of MEN1 patients undergoing a comprehensive evaluation. In the literature, lipomas are reported to be found in 0.9-34% of MEN1 patients ( 13 , 15 , 16 , 24 , 25 , 42 , 46 , 69 – 72 ). In the studies incorporating a comprehensive dermatologic evaluation of MEN1 patients ( 13 , 15 , 16 ) ( Table 1 ), the prevalence was 17-34%.…”

Section: Lipomas and Hibernomasmentioning

confidence: 99%

“…Most recently, it has been proposed that the risk of breast carcinoma is heightened in females with MEN1. To date, there have been approximately 90 or fewer cases of breast carcinoma in women with MEN1 reported in the literature ( 24 , 43 , 44 , 51 , 72 , 81 , 87 , 95 , 99 , 137 – 150 ); breast cancer has not yet been reported in a man with MEN1. The exact number of cases is difficult to determine due to the likely overlap of cases in the published literature and the lack of specific case numbers in one publication.…”

Section: Breast Carcinomamentioning

confidence: 99%

See 1 more Smart Citation

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

Waguespack

2022

Front. Endocrinol.

View full text Add to dashboard Cite

Multiple endocrine neoplasia type 1 (MEN1), an autosomal-dominantly inherited tumor syndrome, is classically defined by tumors arising from the “3 Ps”: Parathyroids, Pituitary, and the endocrine Pancreas. From its earliest descriptions, MEN1 has been associated with other endocrine and non-endocrine neoplastic manifestations. High quality evidence supports a direct association between pathogenic MEN1 variants and neoplasms of the skin (angiofibromas and collagenomas), adipose tissue (lipomas and hibernomas), and smooth muscle (leiomyomas). Although CNS tumors, melanoma, and, most recently, breast cancer have been reported as MEN1 clinical manifestations, the published evidence to date is not yet sufficient to establish causality. Well-designed, multicenter prospective studies will help us to understand better the relationship of these tumors to MEN1, in addition to verifying the true prevalence and penetrance of the well-documented neoplastic associations. Nevertheless, patients affected by MEN1 should be aware of these non-endocrine manifestations, and providers should be encouraged always to think beyond the “3 Ps” when treating an MEN1 patient.

show abstract

Section: Lipomas and Hibernomasmentioning

confidence: 99%

Section: Breast Carcinomamentioning

confidence: 99%

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

Waguespack

2022

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

“…The most common cutaneous tumors found in patients with MEN1 were angiofibromas, collagenomas, and lipomas. Other cutaneous tumors found were melanomas, atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid, but this category is not sustained by well-designed clinical studies and genetic workup in most cases, thus the association might be incidental ( Table 1 ) [ 31 , 39 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 ].…”

Section: Men1 and Skin Tumor Profilementioning

confidence: 99%

“…In contrast with adults, gastrinomas are a rare, but aggressive, occurrence in pediatric patients [ 1 , 3 ]. Apart from the main NETs, MEN1 is associated with other tumors such as NETs of the thymus, lung, and ovary, adrenal cortical tumors including adrenal carcinoma, pheochromocytoma, and, also, meningiomas [ 1 , 31 , 32 ]. Thyroid tumors also occur in 25% of patients, but the association may not be causal [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

et al. 2022

View full text Add to dashboard Cite

Non-endocrine findings in patients with MEN1 (multiple endocrine neoplasia) syndrome also include skin lesions, especially tumor-type lesions. This is a narrative review of the English-language medical literature including original studies concerning MEN1 and dermatological issues (apart from dermatologic features of each endocrine tumor/neuroendocrine neoplasia), identified through a PubMed-based search (based on clinical relevance, with no timeline restriction or concern regarding the level of statistical significance). We identified 27 original studies involving clinical presentation of patients with MEN1 and cutaneous tumors; eight other original studies that also included the genetic background; and four additional original studies were included. The largest cohorts were from studies in Italy (N = 145 individuals), Spain (N = 90), the United States (N = 48 and N = 32), and Japan (N = 28). The age of patients varied from 18 to 76 years, with the majority of individuals in their forties. The most common cutaneous tumors are angiofibromas (AF), collagenomas (CG), and lipomas (L). Other lesions are atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid. Non-tumor aspects are confetti-like hypopigmentation, café-au-lait macules, and gingival papules. MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable. Typically, cutaneous tumors (AF, CG, and L) are benign and are surgically treated only for cosmetic reasons. Some of them are reported as first presentation. Even though skin lesions are not pathognomonic, recognizing them plays an important role in early identification of MEN1 patients. Whether a subgroup of MEN1 subjects is prone to developing these types of cutaneous lesions and how they influence MEN1 evolution is still an open issue.

show abstract

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas

Smirne,

Giacomini,

Berton

et al. 2024

J Endocrinol Invest

View full text Add to dashboard Cite

Purpose Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects. Methods While conducting an extensive review of the most recent scientific evidence on the unusual glucagonoma familial forms, we analyzed the MEN1 gene in a 35-year-old female with MEN1, as well as her son and daughter, using Sanger and next-generation sequencing (NGS) approaches. We additionally explored the functional and structural consequences of the identified variant using in silico analyses. Results NGS did not show any known pathogenic variant in the tested regions. However, a new non-conservative variant in exon 4 of MEN1 gene was found in heterozygosity in the patient and in her daughter, resulting in an amino acid substitution from hydrophobic cysteine to hydrophilic arginine at c.703T > C, p.(Cys235Arg). This variant is absent from populations databases and was never reported in full papers: its characteristics, together with the high specificity of the patient’s clinical phenotype, pointed toward a possible causative role. Conclusion Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas.

show abstract

Uncommon tumors in multiple endocrine neoplasia (MEN) type 1: Do they have a relationship with the prognosis of these patients?

Cited by 4 publications

References 9 publications

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas

Contact Info

Product

Resources

About