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
<p>Abstract</p> <p>Background</p> <p>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 indicat...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2007-03-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/1/1/9 |
| _version_ | 1818755391147737088 |
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| author | Mai Phuong L Korde Larissa Kramer Joan Peters June Mueller Christine M Pfeiffer Susan Stratakis Constantine A Pinto Peter A Bratslavsky Gennady Merino Maria Choyke Peter Linehan W Marston Greene Mark H |
| author_facet | Mai Phuong L Korde Larissa Kramer Joan Peters June Mueller Christine M Pfeiffer Susan Stratakis Constantine A Pinto Peter A Bratslavsky Gennady Merino Maria Choyke Peter Linehan W Marston Greene Mark H |
| author_sort | Mai Phuong L |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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.</p> <p>Case presentation</p> <p>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 (<it>PTEN </it>gene), Carney complex (<it>PRKAR1A </it>gene), and multiple endocrine neoplasia syndrome type 1 <it>(MEN1 </it>gene); no deleterious mutations were identified.</p> <p>Discussion</p> <p>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.</p> |
| first_indexed | 2024-12-18T05:38:24Z |
| format | Article |
| id | doaj.art-0c31e09d10934105a6958870080e1ca1 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-18T05:38:24Z |
| publishDate | 2007-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-0c31e09d10934105a6958870080e1ca12022-12-21T21:19:14ZengBMCJournal of Medical Case Reports1752-19472007-03-0111910.1186/1752-1947-1-9A 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 reportMai Phuong LKorde LarissaKramer JoanPeters JuneMueller Christine MPfeiffer SusanStratakis Constantine APinto Peter ABratslavsky GennadyMerino MariaChoyke PeterLinehan W MarstonGreene Mark H<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Case presentation</p> <p>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 (<it>PTEN </it>gene), Carney complex (<it>PRKAR1A </it>gene), and multiple endocrine neoplasia syndrome type 1 <it>(MEN1 </it>gene); no deleterious mutations were identified.</p> <p>Discussion</p> <p>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.</p>http://www.jmedicalcasereports.com/content/1/1/9 |
| spellingShingle | Mai Phuong L Korde Larissa Kramer Joan Peters June Mueller Christine M Pfeiffer Susan Stratakis Constantine A Pinto Peter A Bratslavsky Gennady Merino Maria Choyke Peter Linehan W Marston Greene Mark H 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 |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.jmedicalcasereports.com/content/1/1/9 |
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