Results 1 to 10 of about 1,690 (123)

Untying the Next Genetic Thread in a Family With MEN2A Syndrome: A Case Report [PDF]

Clinical Case Reports (discontinued)
Multiple endocrine neoplasia type 2A (MEN2A) is a rare autosomal dominant syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism. Early genetic screening is crucial for timely intervention.
Riyaz Shrestha, Samir Shrestha, Himal Karki   +2 more
exaly   +3 more sources

Anesthesia and Outcome of 33 Surgeries in 24 Multiple Endocrine Neoplasia Type 2A (MEN2A) Patients: A National Rare Disease Center’s Experience

Frontiers in Endocrinology, 2022
BackgroundMultiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome that presents as medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
Yuguang Huang, Le Shen
exaly   +3 more sources

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation—a homozygous female patient and heterozygous identical twins: a systematic review of literature [PDF]

Frontiers in Endocrinology
BackgroundGermline RET-p.C634Y heterozygous mutations are predominant in MEN2A, but homozygous cases and MEN2A-affected identical twins remain poorly characterized.SummaryWe report two MEN2A families—a homozygous female patient and heterozygous male ...
Xiao-Ping Qi, Xiao-Ping Qi, Yu-Ting Weng, Zhen-Yu Chen, Mei-Xian Zhang, Xiao-Ling Yang, Zhi-Lie Cao, Zhi-Lie Cao, Xue-Xing Zhang, Wen-Bo Zhu, Hong-Yuan Yu, Wei-Ying Chen, Ji-Ya Chen, Fei-Ping Li   +13 more
doaj   +2 more sources

Efficacy of iodine-131-metaiodobenzylguanidine therapy for multiple endocrine neoplasia type 2A-associated metastatic pheochromocytoma: case report and literature review [PDF]

Endocrine Journal
Malignant transformation in multiple endocrine neoplasia type 2 (MEN2)-associated pheochromocytoma is rare, and there have been few reports of treatment with 131I-metaiodobenzylguanidine (MIBG) therapy.
Kentaro Suda, Noriko Kimura, Toshihiro Maeda, Shiro Watanabe, Sachiyo Nishida, Hiroaki Shima, Taro Sugawara, Shinya Uchino, Aki Ishikawa, Toshiaki Tanaka, Masato Furuhashi, Naoya Masumori, Akihiro Sakurai   +12 more
doaj   +2 more sources

Additive effect of RET polymorphisms in MEN2A-associated hyperparathyroidism [PDF]

Endocrine Connections
Introduction: Multiple endocrine neoplasia 2A (MEN2A) is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT). RET polymorphisms have been associated with susceptibility and prognosis of MTC.
Nathalie Lobo de Figueiredo-Feitosa, Patrícia Künzle Ribeiro Magalhães, Lucieli Ceolin, Ana Luiza Maia, Lea Maria Zanini Maciel   +4 more
doaj   +2 more sources

Coexistence of Medullary Thyroid Carcinoma and Bilateral Pheochromocytoma in MEN2A Syndrome: Atypical Presentation and Clinical Insights From a Case Report [PDF]

Clinical Case Reports
MEN2A may present with bilateral pheochromocytoma a decade before medullary thyroid carcinoma. This case highlights that high‐risk RET mutations must dictate surgical management regardless of benign cytology.
Juan Carlos Vallejo‐Soto, Rogers Leonardo Baquero García, Álvaro Eduardo Granados Calixto, Juan Esteban Ortiz Elejalde, Silvana Barrera Rodríguez, Isabella González Guillén   +5 more
doaj   +2 more sources

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese. [PDF]

PLoS ONE
ObjectiveTo investigate the genotype-phenotype correlations of multiple endocrine neoplasia type 2A (MEN2A) caused by mutations in exon 10 of the RET gene in Ethnic Han Chinese.MethodsA retrospective analysis was conducted on the family history and ...
Feng Li, Weiying Chen, Zhenyu Chen, Bijun Lian, Xudong Fang, Hangyang Jin, Huihong Wang, Jianqiang Zhao, Yiming Zhang, Xiaoping Qi   +9 more
doaj   +2 more sources

Multi-molecular imaging showing tumour heterogeneity and differing diagnostic performance in a case with metastatic pheochromocytoma [PDF]

EJNMMI Reports
A patient with multiple endocrine neoplasia 2A (MEN2A) and a suspicion of metastasized pheochromocytoma, underwent multi-molecular positron emission tomography (PET) imaging with the recently presented radiopharmaceutical [18F]-metafluorobenzylguanidine (
Fredrik Hedeer, Jenny Oddstig, Páll Hallgrimson, Katarina Fagher   +3 more
doaj   +2 more sources

RET Proto-oncogene C634Y Mutation-associated Multiple Endocrine Adenomatosis Type 2A: a Case Report and Literature Review [PDF]

Zhongguo quanke yixue, 2023
Multiple endocrine adenomatosis type 2A (MEN2A) is a subtype of multiple endocrine adenomatosis type 2, which is clinically characterized by medulloid thyroid carcinoma (MTC) , pheochromocytoma (PHEO) , and hyperparathyroidism, and has been reported to ...
DENG Yuxuan, HE Li, SONG Zhiwang, JIANG Yanxia
doaj   +1 more source

A patient with RET D631Y mutation present with pheochromocytoma

Clinical Case Reports, 2021
Patients with MEN2A with RET D631Y mutation most commonly present with pheochromocytomas. MTC is a less common part of the syndrome. Therefore, MEN2A caused by the RET D631Y mutation would be a benign nature.
Jung Min Kim
doaj   +1 more source