Results 41 to 50 of about 1,223 (121)

A Case Series Study of Solitary Mucosal Neuroma-Rare Cases of Benign Peripheral Neurogenic Tumours

Clinical Pathology
Aim/objective: Mucosal neuroma (MN) is a benign peripheral nerve tumour that usually occurs as a symptom of multiple endocrine neoplasia type 2B (MEN2B) (MEN2B-associated MN). MN that is not associated with MEN2B is termed solitary mucosal neuroma (SMN).
Yu Takayama, Satoshi Yokoo, Takahiro Yamaguchi, Keisuke Suzuki, Takahiro Shimizu, Masaru Ogawa, Akinori Gomi, Mai Seki, Takaya Makiguchi   +8 more
doaj   +1 more source

Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report

Case Reports in Endocrinology, 2012
We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15.
Deniz Çetin, Mustafa Ünübol, Aykut Soyder, Engin Güney, Adil Coşkun, Serdar Özbaş, Alparslan Ünsal, Muhan Erkuş   +7 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with “highest risk” RET mutation

Stem Cell Research, 2017
Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma.
A. Bennaceur-Griscelli, J. Hadoux, O. Féraud, P. Opolon, D. Divers, E. Gobbo, M. Schlumberger, F. Griscelli, A.G. Turhan   +8 more
doaj   +1 more source

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine

Frontiers in Endocrinology, 2020
Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism, and extra-endocrine features.
Shu-Yuan Li, Yi-Qiang Ding, You-Liang Si, Mu-Jin Ye, Chen-Ming Xu, Xiao-Ping Qi   +5 more
doaj   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Isolated intestinal Ganglioneuromatosis: case report and literature review

Italian Journal of Pediatrics, 2021
Background Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden ...
Angela Mauro, Letizia Zenzeri, Francesco Esposito, Giovanni Gaglione, Caterina Strisciuglio, Emanuela Pilozzi, Vito Domenico Corleto, Chiara Ziparo, Giovanni Di Nardo   +8 more
doaj   +1 more source

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

BMC Cancer, 2021
Background Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on ...
Xiao-Ping Qi, Jian-Qiang Zhao, Xu-Dong Fang, Bi-Jun Lian, Feng Li, Hui-Hong Wang, Zhi-Lie Cao, Wei-Hui Zheng, Juan Cao, Yu Chen   +9 more
doaj   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Vogt, Pamela Arn   +3 more
wiley   +1 more source

Ectopic ACTH Production in Medullary Thyroid Carcinoma—A Study of Two Cases

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from thyroid parafollicular C‐cells, accounting for 1–2% of all thyroid cancers. An exceedingly rare manifestation of MTC is ectopic adrenocorticotropic hormone (ACTH) production, causing Cushing’s syndrome and complicating management.
Robert Bränström, Fredric Hedberg, Monique Huisman, Maria Petersson, Camilla Jerning, Ivan Shabo, David J. M. Goldstein, Martin Larsson, C. Christofer Juhlin, Osamu Isozaki   +9 more
wiley   +1 more source

Síndrome de neoplasia endocrina múltiple

Acta Médica Costarricense
Las neoplasias endocrinas múltiples son síndromes hereditarios raros, algunos con potencial maligno. La neoplasia endocrina múltiple tipo 2B se caracteriza por formación de tumores como el carcinoma medular de tiroides y el feocromocitoma y por síntomas ...
David Ricardo Guillén, Alejandro Cob-Guillén   +1 more
doaj   +1 more source