Multiple endocrine neoplasias type 2B and RET proto-oncogene [PDF]
Italian Journal of Pediatrics, 2012 Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas ...
Martucciello Giuseppe +6 more
doaj +5 more sources
Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report [PDF]
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 +7 more
doaj +2 more sources
A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract [PDF]
Case Reports in Medicine, 2012 Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait.
Banafshe Shahnazari +5 more
doaj +2 more sources
p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease [PDF]
Endocrine JournalMultiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant disorder caused by germline pathogenic RET variants. On the other hand, Charcot–Marie–Tooth disease (CMT) is a hereditary neurological disorder, characterized by distal muscle ...
Mami Sato +15 more
doaj +2 more sources
Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. [PDF]
J Clin Endocrinol Metab, 2019 Abstract Context Multiple endocrine neoplasia type 2B (MEN2B) is characterized by early-onset medullary thyroid cancer in virtually all cases and a 50% lifetime risk of pheochromocytoma (PHEO) development.
Makri A +7 more
europepmc +3 more sources
Efficacy and safety of pralsetinib in multiple endocrine neoplasia type 2-associated pheochromocytoma: a case report [PDF]
Therapeutic Advances in Endocrinology and MetabolismA 34-year-old male developed bilateral recurrent pheochromocytomas 10 years after laparoscopic adrenal-sparing surgery for pheochromocytomas. Based on his clinical manifestations and germline REarranged during Transfection (RET) variant, the patient was ...
Shiwei Chen +7 more
doaj +2 more sources
Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years [PDF]
Journal of Pediatrics, 2018 John Glod, Maya Lodish
exaly +2 more sources
Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approach
Iatreia, 2023 Multiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome with an estimated prevalence of 0.9 to 1.6 per million individuals and an annual incidence of 1.4 to 2.6 per million live births.
Valentina Agredo Delgado +2 more
doaj +1 more source
A Case of Multiple Endocrine Neoplasia Type 2B [PDF]
Japanese Journal of Clinical Oncology, 1997 A sporadic case of multiple endocrine neoplasia type 2B in a twenty-six year old man who manifested medullary thyroid carcinoma, multiple mucosal neuromas of the tongue and a marfanoid habitus is reported. At the time of diagnosis, he also had multiple liver and lung metastases.
M, Ohta +8 more
openaire +2 more sources
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 +2 more
doaj +1 more source