Multiple Endocrine Neoplasia 4 (MEN4) Syndrome

 

Chromosome: 12p13.1-p12

Gene: CDKN1B

Normal product: p27(kip1) cyclin-dependent kinase 2 inhibitor

 

In MEN4 there is an absence of p27 in tumor cells as a result of various loss-of-function mutations

 

Inheritance: autosomal dominant

 

Associated tumors:

(1) parathyroid adenoma with hyperparathyroidism

(2) pituitary adenoma

(3) gonadal tumors (testicular cancer in males, neuroendocrine cervical cancer in females)

(4) adrenal and renal tumors

(5) pancreatic neuroendocrine tumor

(6) thyroid tumors

 

A patient may be initially diagnosed as MEN1 but will not have a mutation in the MEN1 gene.