title: Uncommon association of cerebral meningioma, parathyroid adenoma and papillary thyroid carcinoma in a patient harbouring a rare germline variant in the CDKN1B gene.
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.
authors.affiliation: Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal.
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Bugalho
authors.affiliation: Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal.
authors.forename: Rita
authors.initials: R
authors.lastname: Domingues
mesh_terms: D000236:Adenoma / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D002291:Carcinoma, Papillary; D054022:Cerebrum; D050760:Cyclin-Dependent Kinase Inhibitor p27 / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D010282:Parathyroid Neoplasms / Q000235:genetics*; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: C436291:CDKN1B protein, human; D050760:Cyclin-Dependent Kinase Inhibitor p27