Abstract
A case of multiple hamartoma syndrome (Cowden's disease) associated with renal cell adenocarcinoma and primary neuroendocrine carcinoma of the skin is described. Neither of these neoplasms has been documented previously in association with this genodermatosis. A search for epidermal growth factor receptor (c-erb-B protooncogene) gene abnormalities in the kidney, liver, and thyroid, as well as in tissue of the primary neuroendocrine carcinoma, was negative. Serum obtained from the patient before his death contained elevated levels of both chromogranin A (2641 ng/mL; normal level, less than 20 ng/mL) and calcitonin (517 pg/mL; normal level, less than 200 pg/mL), suggesting that the patient's principal tumor was neuroendocrine in origin.
Publication types
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Case Reports
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Calcitonin / blood
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Carcinoma, Merkel Cell* / blood
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Carcinoma, Merkel Cell* / genetics
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Carcinoma, Merkel Cell* / metabolism
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Carcinoma, Renal Cell* / blood
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Carcinoma, Renal Cell* / genetics
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Carcinoma, Renal Cell* / metabolism
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Chromogranin A
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Chromogranins / blood
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DNA, Neoplasm / genetics
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Hamartoma Syndrome, Multiple* / blood
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Hamartoma Syndrome, Multiple* / genetics
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Hamartoma Syndrome, Multiple* / metabolism
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Humans
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Immunohistochemistry
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Karyotyping
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Kidney Neoplasms* / blood
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Kidney Neoplasms* / genetics
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Kidney Neoplasms* / metabolism
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Male
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Neoplasms, Multiple Primary*
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Skin Neoplasms* / blood
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Skin Neoplasms* / genetics
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Skin Neoplasms* / metabolism
Substances
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Chromogranin A
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Chromogranins
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DNA, Neoplasm
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Calcitonin