Abstract
The case of a 33-year-old-woman with Multiple Endocrine Neoplasia Type 1 (MEN1) syndrome and acromegaly due to ectopic growth hormone-releasing hormone (GHRH) secretion by a thymic carcinoid tumour is reported. Immunohistochemistry revealed positive immunoreactivity for GHRH, vasoactive intestinal polypeptide, somatostatin and alpha-subunit in the tumour cells. A previously undescribed new germ line mutation of the MEN1 protein gene was revealed.
MeSH terms
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Acromegaly / drug therapy
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Acromegaly / etiology*
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Adult
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Antineoplastic Agents / therapeutic use
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Carcinoid Tumor / chemistry
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Carcinoid Tumor / drug therapy
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Carcinoid Tumor / metabolism*
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Fatal Outcome
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Female
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Germ-Line Mutation
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Growth Hormone-Releasing Hormone / analogs & derivatives
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Growth Hormone-Releasing Hormone / analysis
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Growth Hormone-Releasing Hormone / metabolism*
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Humans
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Immunohistochemistry
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Multiple Endocrine Neoplasia Type 1 / chemistry
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Multiple Endocrine Neoplasia Type 1 / drug therapy
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Multiple Endocrine Neoplasia Type 1 / genetics
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Multiple Endocrine Neoplasia Type 1 / metabolism*
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Neoplasm Proteins / analysis
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Neoplasm Proteins / metabolism*
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Peptides, Cyclic / therapeutic use
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Somatostatin / analogs & derivatives
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Somatostatin / analysis
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Somatostatin / therapeutic use
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Thymus Neoplasms / chemistry
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Thymus Neoplasms / metabolism*
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Vasoactive Intestinal Peptide / analysis
Substances
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Antineoplastic Agents
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Neoplasm Proteins
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Peptides, Cyclic
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lanreotide
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Vasoactive Intestinal Peptide
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Somatostatin
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Growth Hormone-Releasing Hormone