Multiple Endocrine Neoplasia Research 
This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.
This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Genes, Vol. 14, Pages 1782: Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
Conclusion: These preliminary data show that a diagnosis of NET in patients with a negative family history is suggestive of MEN1 in the presence of ≥three positive phenotypic criteria, including early age, multifocality, multiple MEN-associated manifestations, and endocrine syndromes. This indication may allow optimization of the diagnosis of MEN in patients with NET. (Source: Genes)
Source: Genes - September 10, 2023 Category: Genetics & Stem Cells Authors: Antongiulio Faggiano Beatrice Fazzalari Nevena Mikovic Flaminia Russo Virginia Zamponi Rossella Mazzilli Vito Guarnieri Maria Piane Vincenzo Visco Simona Petrucci Tags: Article Source Type: research
A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance
Intern Med. 2023 Sep 1. doi: 10.2169/internalmedicine.2300-23. Online ahead of print.ABSTRACTMultiple gastroenteric, pancreatic, and pituitary neuroendocrine neoplasms (NENs) were diagnosed in a 74-year-old man with a history of primary hyperparathyroidism (PHPT). Germline testing demonstrated a variant of MEN1 (c.1694T>A, p.L565Q), whose pathogenicity was classified as a variant of uncertain significance (VUS) according to the ACMG/AMP guidelines. The same germline variant was detected in the patient's son and daughter, who also showed PHPT or hypercalcemia and met the clinical diagnostic criteria for multiple endocrin...
Source: Internal Medicine - September 4, 2023 Category: Internal Medicine Authors: Hiroyuki Matsubayashi Yoshimi Kiyozumi Rina Harada Takashi Mukaigawa Teichi Sugiura Hirotoshi Ishiwatari Junya Sato Fumitaka Niiya Kazuaki Nakashima Nobuhiro Kado Seiichiro Nishimura Goichi Honda Nobuyuki Ohike Source Type: research
