FaCD Online Syndrome Fact Sheet

Last updated: 07 Feb 2008

Name: Colonic Polyps, Lipmatosis, Pituitary Adenoma, Renal Cancer and Testicular Cancer

Mode of Inheritance: AD?/multifact?

Tumor features

colorectal adenomas
colorectal hamartomatous polyps
colorectal hyperplastic polyps
gastrointestinal polyps, juvenile type
pituitary adenoma
renal cell cancer
testicular germ cell tumor

Tumor features (possible)

urinary bladder cancer

Non-tumor features

hyperpigmentation of the skin


Mai et al reported a patient diagnosed with testicular seminoma at age 28, multiple colon polyps (adenomatous, hyperplastic, and hamartomatous) from the age of 50+, multiple lipomas, multiple hyperpigmented skin lesions, kidney cancer diagnosed at age 64 (no histology), and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. Family history revealed testicular seminoma in his son at age 34, bladder cancer in his sister at age 53, and lipomatosis in his father. DNA testing for for Cowden syndrome (PTEN gene), Carney complex (PRKAR1A gene), and multiple endocrine neoplasia syndrome type 1 (MEN1 gene) failed to detect a mutation and the authors suggest that the reported phenotype might belong to an unknown hereditary tumor syndrome.


[1] Mai PL, Korde L, Kramer J, Peters J, Mueller CM, Pfeiffer S, Stratakis CA, Pinto PA, Bratslavsky G, Merino M, Choyke P, Linehan WM, Greene MH. A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report. Journal of medical case reports 2007; 1():9.