Results 11 to 20 of about 1,223 (121)

A case report of non-syndromic colonic ganglioneuroma in a patient with juvenile polyposis. [PDF]

JPGN Rep
Abstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Coffey H, Arora K, Giefer MJ.
europepmc   +2 more sources

Multiple Oral and Eyelid Nodules in a Pediatric Patient. [PDF]

Oral Dis
Oral Diseases, Volume 32, Issue 7, Page 1739-1741, July 2026.
Pedroso CM, Penafort PVM, de Souza PV, Pascon FM, Punppin-Rontani RM, Cherve BFP, Robim RM, de Mendonça RMH, Lopes MA, Vargas PA, Santos-Silva AR.   +10 more
europepmc   +2 more sources

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

Clin Case Rep
ABSTRACT 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. Furthermore, it underscores the necessity of lifelong surveillance for late adrenal recurrences presenting as hypertensive crises.
Vallejo-Soto JC, Baquero García RL, Granados Calixto ÁE, Ortiz Elejalde JE, Barrera Rodríguez S, González Guillén I.   +5 more
europepmc   +2 more sources

Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis. [PDF]

Int J Dermatol
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Pálla S, Metyovinyi Z, Meznerics FA, Mirzahosseini A, Tőke J, Tóth M, Butz H, Patócs A, Medvecz M.   +8 more
europepmc   +2 more sources

Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B

American Journal of Ophthalmology Case Reports, 2023
Purpose: To report a patient with conjunctival and buccal neuromas and enlarged corneal nerves without Multiple Endocrine Neoplasia 2B (MEN2B). Observations: A 28-year-old female presented with progressively enlarging bilateral limbal conjunctival ...
Talia N. Shoshany, Christopher J. Rapuano, Tatyana Milman   +2 more
doaj   +1 more source

Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review

Endocrine Connections, 2021
Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of met astases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of ...
Sandeep Kumar, Anurag Ranjan Lila, Saba Samad Memon, Vijaya Sarathi, Virendra A Patil, Santosh Menon, Neha Mittal, Gagan Prakash, Gaurav Malhotra, Nalini S Shah, Tushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India   +10 more
doaj   +1 more source

Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human <i>RET</i> Gene: An In Silico Study. [PDF]

Hum Mutat
The RET proto‐oncogene plays a critical role in multiple cancers and developmental disorders, where nonsynonymous single nucleotide polymorphisms (nsSNPs) may alter protein stability, function, and therapeutic response. In this study, a total of 28,335 SNPs from the NCBI dbSNP database, including 2377 nsSNPs, were systematically analyzed using 10 in ...
Anzoom N, Hossain MA, Hossain MT, Uddin MM, Khan M, Islam MS, Ansari SA, Rahman MH.   +7 more
europepmc   +2 more sources

Metastatic Medullary Thyroid Carcinoma as a Presenting Feature of Multiple Endocrine Neoplasia 2B: A Case Report and Literature Review

Case Reports in Clinical Practice, 2020
Background: Multiple Endocrine Neoplasia type 2B (MEN2B) is an autosomal dominant disorder characterized by Medullary Thyroid Carcinoma (MTC) and pheochromocytoma. MTC occurs in almost all MEN2B patients.
Mohsen Esfandbod, Bahareh Shateri amiri, Reza Taslimi   +2 more
doaj   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study. [PDF]

Int J Cancer
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Nordgren I, Nordenvall AS, Wachtmeister A, Taylan F, Lu Y, Norrby C, Lindstrand A, Grigelioniene G, Tettamanti G.   +8 more
europepmc   +2 more sources

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Life, 2023
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant (AD) condition with very high penetrance and expressivity. It is characterized into three clinical entities recognized as MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC ...
Vassos Neocleous, Pavlos Fanis, Savvas Frangos, Nicos Skordis, Leonidas A. Phylactou   +4 more
doaj   +1 more source