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Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome.
Ruggeri RM, Benevento E, De Cicco F, Grossrubatscher EM, Hasballa I, Tarsitano MG, Centello R, Isidori AM, Colao A, Pellegata NS, Faggiano A. Ruggeri RM, et al. Endocrine. 2023 Dec;82(3):480-490. doi: 10.1007/s12020-023-03497-2. Epub 2023 Aug 26. Endocrine. 2023. PMID: 37632635 Review.
CONCLUSIONS: MEN4 is much less common that MEN1, tend to present later in life with a more indolent course, although involving the same primary organs as MEN1. As a consequence, MEN4 patients might need specific diagnostic and therapeutic approaches and a different strateg …
CONCLUSIONS: MEN4 is much less common that MEN1, tend to present later in life with a more indolent course, although involving the sa …
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.
Faggiano A, Fazzalari B, Mikovic N, Russo F, Zamponi V, Mazzilli R, Guarnieri V, Piane M, Visco V, Petrucci S. Faggiano A, et al. Genes (Basel). 2023 Sep 10;14(9):1782. doi: 10.3390/genes14091782. Genes (Basel). 2023. PMID: 37761922 Free PMC article.
The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, or thymic neuroendocrine tumor (NET …
The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplas …
Somatic and germline mutations in the pathogenesis of pituitary adenomas.
Vandeva S, Daly AF, Petrossians P, Zacharieva S, Beckers A. Vandeva S, et al. Eur J Endocrinol. 2019 Dec;181(6):R235-R254. doi: 10.1530/EJE-19-0602. Eur J Endocrinol. 2019. PMID: 31658440 Free article. Review.
Germline pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene were found in familial or sporadic pituitary adenomas, usually with an aggressive clinical course. Cyclin-dependent kinase inhibitor 1B (CDKN1B) pathogenic variants lead to multipl …
Germline pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene were found in familial or sporadic pituitary ad …
The Spectrum of Familial Pituitary Neuroendocrine Tumors.
Armeni E, Grossman A. Armeni E, et al. Endocr Pathol. 2023 Mar;34(1):57-78. doi: 10.1007/s12022-022-09742-0. Epub 2022 Nov 18. Endocr Pathol. 2023. PMID: 36401106 Review.
In general, the established genetic causes of familial tumorigenesis tend to present at a younger age, often pursue a more aggressive course, and are more frequently associated with growth hormone hypersecretion compared to sporadic tumors. ...
In general, the established genetic causes of familial tumorigenesis tend to present at a younger age, often pursue a more aggressive cou …
A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome.
Tonelli F, Giudici F, Giusti F, Marini F, Cianferotti L, Nesi G, Brandi ML. Tonelli F, et al. Eur J Endocrinol. 2014 Aug;171(2):K7-K17. doi: 10.1530/EJE-14-0080. Epub 2014 May 12. Eur J Endocrinol. 2014. PMID: 24819502
A germline frameshift mutation of CDKN1B (371delCT) was revealed, predicted to generate a truncated p27 (CDKN1B) protein. This mutation was confirmed on somatic DNA from the pathological parathyroid tissue, with the retention of the WT allele. ...
A germline frameshift mutation of CDKN1B (371delCT) was revealed, predicted to generate a truncated p27 (CDKN1B) protein. This mutati …