Results 51 to 60 of about 2,522,691 (166)

Multiple endocrine neoplasia type 1 variants and phenocopies

Терапевтический архив, 2014
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary disease due to a mutation in the MEN1 tumor suppressor gene. The risk of the disease in first-degree relatives of MEN1 mutation carriers is 50%.
E O Mamedova, N G Mokrysheva, E G Przhiialkovskaia, E A Pigarova, L Ia Rozhinskaia, A N Tiul'pakov   +5 more
doaj  

Multiple endocrine neoplasia type 1

Orphanet Journal of Rare Diseases, 2006
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex ...
Luzi Ettore, Gozzini Alessia, Sala Silvia, Monte Francesca, Falchetti Alberto, Marini Francesca, Brandi Maria   +6 more
doaj   +1 more source

MEN1 promotes ferroptosis by inhibiting mTOR-SCD1 axis in pancreatic neuroendocrine tumors

Acta Biochimica et Biophysica Sinica, 2022
Pancreatic neuroendocrine tumor (pNET) is the second most common malignant tumors of the pancreas. Multiple endocrine neoplasia 1 ( MEN1) is the most frequently mutated gene in pNETs and MEN1-encoded protein, menin, is a scaffold ...
Ye Zeng, Chen Haidi, Ji Shunrong, Hu Yuheng, Lou Xin, Zhang Wuhu, Jing Desheng, Fan Guixiong, Zhang Yue, Chen Xuemin, Zhuo Qifeng, Chen Jie, Xu Xiaowu, Yu Xianjun, Xu Jin, Qin Yi, Gao Heli   +16 more
doaj   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Novel MEN1-associated retroperitoneal pleomorphic liposarcoma

Rare Tumors
Soft tissue sarcomas are rarely associated with mutations of the MEN1 gene. We report a patient with a large retroperitoneal pleomorphic liposarcoma harboring a rare mutation of the MEN1 gene not previously reported to be associated with soft tissue ...
Christopher F McNicoll, Jessica Belmonte, Itzhak Nir, Benjamin D Ferguson   +3 more
doaj   +1 more source

Clinicopathological and molecular comparison of eosinophilic solid and cystic renal cell carcinoma and TFEB‐amplified renal cell carcinoma: a comprehensive study of 15 cases

Histopathology, EarlyView.
This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow, Melissa Y. Tjota, Jung Woo Kwon, Tatjana Antic   +3 more
wiley   +1 more source

MEN1 is a Melanoma Tumor Suppressor that Preserves Genomic Integrity by Stimulating Transcription of Genes that Promote Homologous Recombination-Directed DNA Repair

, 2013
Multiple endocrine neoplasia type 1 is a familial cancer syndrome resulting from loss-of-function mutations in the MEN1 gene. We previously identified the tumor suppressor MEN1 as a gene required for oncogene-induced senescence in melanocytes, raising ...
Wajapeyee, Narendra, Green, Michael R., Virbasius, Ching-Man A., Fang, Minggang, Xia, Fen, Mahalingam, Meera   +5 more
core   +1 more source

Expressions of Cushing’s syndrome in multiple endocrine neoplasia type 1

Frontiers in Endocrinology, 2023
Cushing’s syndrome (CS) resulting from endogenous hypercortisolism can be sporadic or can occur in the context of familial disease because of pituitary or extra-pituitary neuroendocrine tumors.
William F. Simonds
doaj   +1 more source

Prolactinomas in the transition from adolescence to young adulthood: A multicentre, retrospective study from the TALENT group

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract Prolactinomas in the transition age present unique challenges; treatment strategies and long‐term outcomes in this population remain incompletely characterised. This is a multicentre, retrospective study of 110 consecutive patients (33 males) with prolactinomas, aged 15–25 years, across five Italian referral centres (2010–2025).
Dario De Alcubierre, Claudia Giavoli, Tiziana Feola, Lorenzo Cerroni, Ludovica Vincenzi, Eriselda Profka, Aurora Pedroli, Giulia Puliani, Rosa Pirchio, Marta Tenuta, Renata S. Auriemma, Maria Luisa Appetecchia, Rosario Pivonello, Giovanna Mantovani, Andrea M. Isidori, Marie‐Lise Jaffrain‐Rea, Ashley Grossman, Emilia Sbardella   +17 more
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, Volume 7, Issue 3, Page 109-124, September 2026.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source