Multiple endocrine neoplasia-IIb with RET gene mutation p.M918Tï¼ A case report. / RETåºå p.M918Tçªå导è´å¤åæ§å
åæ³è¿ç¤-IIbå1ä¾.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 45(10): 1261-1265, 2020 Oct 28.
Article
em En, Zh
| MEDLINE
| ID: mdl-33268590
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.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasia Endócrina Múltipla
/
Neoplasias da Glândula Tireoide
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Neoplasias das Glândulas Suprarrenais
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Neoplasia Endócrina Múltipla Tipo 2b
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Neoplasia Endócrina Múltipla Tipo 2a
Tipo de estudo:
Screening_studies
Limite:
Child
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Humans
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Male
Idioma:
En
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Zh
Ano de publicação:
2020
Tipo de documento:
Article