title: 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.
abstract: BACKGROUND
  Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome.
  
  
  METHODS
  The patient was diagnosed with a left testicular seminoma at age 28, and treated with left orchiectomy followed by adjuvant cobalt radiation. His family history is significant for testicular seminoma in his son, bladder cancer in his sister, and lipomatosis in his father. His evaluation as part of an etiologic study of familial testicular cancer revealed multiple colon polyps (adenomatous, hyperplastic, and hamartomatous) first found in his 50 s, multiple lipomas, multiple hyperpigmented skin lesions, left kidney cancer diagnosed at age 64, and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. The patient underwent genetic testing for Cowden syndrome (PTEN gene), Carney complex (PRKAR1A gene), and multiple endocrine neoplasia syndrome type 1 (MEN1 gene); no deleterious mutations were identified.
  
  
  CONCLUSIONS
  The constellation of benign and malignant neoplasms in the context of this patient's familial testicular cancer raised the possibility that these might be manifestations of a known hereditary susceptibility cancer syndrome; however, genetic testing for the three syndromes that were most likely to explain these findings did not show any mutation. Alternatively, this family's phenotype might represent a novel neoplasm susceptibility disorder. This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. maip@mail.nih.gov.
authors.forename: Phuong L
authors.initials: PL
authors.lastname: Mai
authors.forename: Larissa
authors.initials: L
authors.lastname: Korde
authors.forename: Joan
authors.initials: J
authors.lastname: Kramer
authors.forename: June
authors.initials: J
authors.lastname: Peters
authors.forename: Christine M
authors.initials: CM
authors.lastname: Mueller
authors.forename: Susan
authors.initials: S
authors.lastname: Pfeiffer
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
authors.forename: Peter A
authors.initials: PA
authors.lastname: Pinto
authors.forename: Gennady
authors.initials: G
authors.lastname: Bratslavsky
authors.forename: Maria
authors.initials: M
authors.lastname: Merino
authors.forename: Peter
authors.initials: P
authors.lastname: Choyke
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
authors.forename: Mark H
authors.initials: MH
authors.lastname: Greene