Multiple endocrine neoplasia-IIb with RET gene mutation p.M918T: A case report / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 1261-1265, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-880595
ABSTRACT
Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neoplasia Endócrina Múltipla
/
Neoplasias da Glândula Tireoide
/
Neoplasias das Glândulas Suprarrenais
/
Neoplasia Endócrina Múltipla Tipo 2b
/
Neoplasia Endócrina Múltipla Tipo 2a
/
Proteínas Proto-Oncogênicas c-ret
/
Genes
/
Mutação
Tipo de estudo:
Estudo de rastreamento
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2020
Tipo de documento:
Artigo
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