De novo RET proto-oncogene mutation in a patient with multiple endocrine neoplasia type 2B
Journal
Journal of the Formosan Medical Association
Journal Volume
98
Journal Issue
10
Pages
692-697
Date Issued
1999
Author(s)
Abstract
We report a case of multiple endocrine neoplasia type 2B (MEN 2B) with de novo 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. The patient underwent surgery for removal of the recurrent tumor. Although no pheochromocytoma was noted, regular follow-up is necessary because of persistent hypercalcitoninemia.
SDGs
Other Subjects
calcitonin; calcium; adult; article; aspiration biopsy; calcitonin blood level; case report; echography; female; gene mutation; genetic analysis; human; hypocalcemia; multiple endocrine neoplasia; neuroma; oncogene ret; proto oncogene; serology; thyroid medullary carcinoma; thyroidectomy; Adult; Carcinoma, Medullary; Drosophila Proteins; Female; Germ-Line Mutation; Humans; Multiple Endocrine Neoplasia Type 2b; Neoplasm Recurrence, Local; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Proto-Oncogenes; Receptor Protein-Tyrosine Kinases; Thyroid Neoplasms
Type
journal article