title: Genetic prenatal RET testing and pregnancy management of multiple endocrine neoplasia Type II A (MEN2A): a case report.
abstract: Multiple endocrine neoplasia 2A (MEN 2A) is an inherited dominant syndrome characterised by medullary thyroid carcinoma, adrenal pheochromocytoma and hyperparathyroidism due to specific RET proto-oncogene mutations. Fertile MEN 2A women are at risk of complicated pregnancy because of unrecognised pheochromocytoma and transmission of RET mutation to the progeny. This condition may cause psychological distress in affected pregnant patients and their families. Here we describe the genetic prenatal testing, the pregnancy management and obstetric outcome in a MEN 2A patient with a right side adrenal hyperplasia and elevated calcitonin levels, a condition suspicious for possible recurrence of pheochromocytoma. We confirm that maternal or fetal complications are rare when MEN 2A diagnosis is made before pregnancy and an accurate monitoring is instituted. Furthermore, our results indicate that prenatal testing for RET mutations is highly recommended in making decisions and assuring parents on the lifelong risk of tumors. This will avoid the psychological distress that can further complicate the pregnancy of affected women.
authors.affiliation: Department of Obstetrics and Gynecology, Federico II University, Naples, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Martinelli
authors.forename: G M
authors.initials: GM
authors.lastname: Maruotti
authors.forename: D
authors.initials: D
authors.lastname: Pasquali
authors.forename: D
authors.initials: D
authors.lastname: Paladini
authors.forename: A
authors.initials: A
authors.lastname: Agangi
authors.forename: E
authors.initials: E
authors.lastname: Rippa
authors.forename: V
authors.initials: V
authors.lastname: Colantuoni
authors.forename: A
authors.initials: A
authors.lastname: Bellastella
authors.forename: A A
authors.initials: AA
authors.lastname: Sinisi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics; D000328:Adult; D002116:Calcitonin / Q000097:blood; D005260:Female; D006801:Humans; D007621:Karyotyping; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011248:Pregnancy Complications; D011296:Prenatal Diagnosis; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas; D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases