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標題: De novo RET proto oncogene mutation in a patient with multiple endocrine neoplasia type 2B
作者: Chang, T.J.
Wu, S.L.
Chang, T.C.
Huang, S.H.
關鍵字: RET proto-oncogene;multiple endocrine neoplasia type 2B;germline;mutation;medullary thyroid carcinoma;medullary-thyroid carcinoma;protooncogene mutations;men 2a;families;management;fmtc;persistent;phenotype;origin
Project: Journal of the Formosan Medical Association
期刊/報告no:: Journal of the Formosan Medical Association, Volume 98, Issue 10, Page(s) 692-697.
We report a case of multiple: endocrine neoplasia type 2B (MEN 2B) with de nova RET proto-oncogene mutation, The patient, a 23-year-old Taiwanese woman, was admitted for treatment of recurrent medullary thyroid cancer (MTC) 7 years after a total thyroidectomy. Mucosal neuromas and marfanoid appearance were also noted. Because MEN 2B was suspected, the patient and her family members underwent genetic analysis, A heterozygous germline mutation at codon 918 (ATG --> ACG) of the proto-oncogene RET was detected in the patient. This mutation was considered de novo, as it was not detected in either of her parents or her siblings. he patient underwent surgery for removal of the recurrent tumor. Although no pheochromocytoma was noted, regular follow-up is necessary because of persistent hypercalcitoninemia.
ISSN: 0929-6646
Appears in Collections:獸醫學系所

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