Case report

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

Phuong L Mai¹ , Larissa Korde¹ , Joan Kramer¹ , June Peters¹ , Christine M Mueller¹ , Susan Pfeiffer² , Constantine A Stratakis³ , Peter A Pinto⁴ , Gennady Bratslavsky⁴ , Maria Merino⁵ , Peter Choyke⁶ , W Marston Linehan⁴ and Mark H Greene¹

¹  Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

²  Westat Incorporated, Rockville, Maryland, USA

³  Section on Endocrinology & Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

⁴  Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

⁵  Division of Laboratory and Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

⁶  Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

author email corresponding author email

Journal of Medical Case Reports 2007, 1:9doi:10.1186/1752-1947-1-9

Published:	28 March 2007

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.

Case presentation

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.

Discussion

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.