1. Uncommon association of cerebral meningioma, parathyroid adenoma and papillary thyroid carcinoma in a patient harbouring a rare germline variant in the CDKN1B gene.
- Author
-
Bugalho MJ and Domingues R
- Subjects
- Carcinoma, Papillary, Cerebrum, Female, Humans, Middle Aged, Neoplasms, Multiple Primary genetics, Thyroid Cancer, Papillary, Adenoma genetics, Carcinoma genetics, Cyclin-Dependent Kinase Inhibitor p27 genetics, Germ-Line Mutation genetics, Meningeal Neoplasms genetics, Meningioma genetics, Multiple Endocrine Neoplasia genetics, Parathyroid Neoplasms genetics, Thyroid Neoplasms genetics
- Abstract
Multiple endocrine neoplasia type 4 (MEN 4) is a novel form of multiple endocrine neoplasia caused by mutations in the CDKN1B gene. Its clinical presentation includes MEN 1-related tumours such as parathyroid and anterior pituitary tumours in possible association with gonadal, adrenal, renal and thyroid tumours as well as facial angiofibromas, colagenomas and meningiomas. We describe the case of a patient with meningioma, papillary thyroid carcinoma, parathyroid adenoma and, additionally, Hürthle cell adenoma, cholesteatoma and uterine leiomyomas. Considering that this association could represent a MEN 4-like phenotype, we looked for germline mutations in the CDKN1B gene. A rare heterozygous single nucleotide substitution c.397C>A was identified. Its role as a susceptibility factor remains to be established., (2016 BMJ Publishing Group Ltd.)
- Published
- 2016
- Full Text
- View/download PDF