Prenatal molecular diagnosis of RET proto-oncogene mutation in multiple endocrine neoplasia type 2A

Shih Ming Huang, Bor Lin Tao, Ching Cherng Tzeng, Hsin Tzu Liu, Wen Pin Wang

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

We report a case of multiple endocrine neoplasia type 2A (MEN 2A) diagnosed prenatally at 16 weeks gestation. The 35-year-old mother is a MEN 2A patient. She had had three prior pregnancies: one resulted in a stillbirth; one produced a genetically unaffected boy; and the third was terminated in the first trimester owing to a diagnosis of blighted ovum. Autopsy did not reveal the cause of death of the stillborn infant, who was also found to be affected with MEN 2A by molecular study of paraffin-embedded tissue. Because of poor obstetric history and the patient's age, amniocentesis for cytogenetic and molecular studies was performed at 16 weeks' gestation during the pregnancy under discussion. As with other affected members in the mother's family, the missense mutation of TGC to TTC at codon 634 of the RET proto-oncogene was found in amniotic fluid cells. Analysis of DNA extracted from the lymphocytes of the infant's blood at birth confirmed the diagnosis. To our knowledge, this is the first report of prenatal diagnosis of MEN 2A.

Original languageEnglish
Pages (from-to)542-544
Number of pages3
JournalJournal of the Formosan Medical Association
Volume96
Issue number7
Publication statusPublished - 1997 Jul 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Fingerprint Dive into the research topics of 'Prenatal molecular diagnosis of RET proto-oncogene mutation in multiple endocrine neoplasia type 2A'. Together they form a unique fingerprint.

  • Cite this