Results 151 to 160 of about 3,490 (181)

Molecular pathogenesis of MEN2-associated tumors

Familial Cancer, 2005
Although the gene responsible for multiple endocrine neoplasia type 2 (MEN2) was discovered many years ago, the exact mechanisms of tumor development in patients affected with RET germline mutations remain unknown. In vitro studies have certain pitfalls, one of which is the use of cell culture systems such as the NIH3T3 cells, in which RET usually is ...
Christian Koch
exaly   +3 more sources

Abstract 3132: Tumorigenesis of MEN2 pheochromocytoma

Cancer Research, 2021
Abstract Backgrounds: Pheochromocytomas are catecholamine-secreting neuroendocrine tumors, which occur sporadically or as part of inherited syndromes, such as multiple endocrine neoplasia type2 (MEN2), caused by deleterious mutations within the RET protooncogene.
Tatsuki Ogasawara, Yoichi Fujii, Nobuyuki Kakiuchi, Yusuke Shiozawa, Hiromichi Suzuki, Ryuichi Sakamoto, Yusaku Yoshida, Yuichi Shiraishi, Satoru Miyano, Seishi Ogawa   +9 more
openaire   +1 more source

A Patient with MEN1 Typical Features and MEN2-Like Features [PDF]

International Journal of Endocrine Oncology, 2016
Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in MEN1, no mutation in CDKN1B (p27) and no RET mutation,
William F Simonds, Stephen J. Marx, Diala El-Maouche   +2 more
exaly   +3 more sources

Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes

Journal of Pediatric Surgery, 2018
The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome.A chart review of patients
Johnny Deladoëy, Nelson Piché, Dickens St-Vil   +2 more
exaly   +3 more sources

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database

Human Mutation, 2022
The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto-oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes.
Rebecca L. Margraf, Rachel Z. Alexander, Makenzie L. Fulmer, Christine Miller, Elena Coupal, Rong Mao   +5 more
openaire   +2 more sources

Pheochromocytoma in MEN2

Pheochromocytomas (PCs) are rare neuroendocrine tumors found in 20-50% of MEN2 patients. MEN2-related PCs are more often bilateral, identified at a younger age and have a low metastatic potential. They secrete epinephrine as the predominant catecholamine, along with its metabolite metanephrine, and lesser amounts of norepinephrine and normetanephrine ...
Matti L. Gild, Kimchi Do, Venessa H. M. Tsang, Lyndal J. Tacon, Roderick J. Clifton-Bligh, Bruce G. Robinson   +5 more
openaire   +2 more sources

Management of medullary thyroid carcinoma and MEN2 syndromes in childhood

Nature Reviews Endocrinology, 2011
Medullary thyroid carcinoma (MTC) and the multiple endocrine neoplasia (MEN) type 2 syndromes are rare but important endocrine diseases that are increasingly managed by pediatric providers. MTC is generally associated with a favorable prognosis when diagnosed during childhood, where it frequently occurs secondary to activating mutations in the RET ...
Steven G, Waguespack, Thereasa A, Rich, Nancy D, Perrier, Camilo, Jimenez, Gilbert J, Cote   +4 more
openaire   +2 more sources

Molecular Genetics of MEN2-Related Neuroendocrine Tumours

2016
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome with medullary thyroid carcinoma (MTC) as a common manifestation. It is caused by germline missense gain-of-function mutations of the RET proto-oncogene. Two distinct clinical subtypes of MEN2 have been characterized: MEN2A and MEN2B.
Friedhelm Raue, Karin Frank-Raue
openaire   +1 more source

MEN2: Hyperparathyroidism

2023
Mechteld C. de Jong, Rajeev Parameswaran
openaire   +1 more source

MEN2: Medullary Carcinoma

2023
Yi Sia, Radu Mihai
openaire   +1 more source