title: [Gastric hamartoma and thyroid gland carcinoma with follicular and neuroendocrine differentiation in Cowden syndrome].
abstract: A 40-year old male patient presented with a history of subtotal strumectomy, excision of multiple cutaneous lesions at the upper trunk and gastrointestinal polyposis of unknown origin. The patient was admitted for weight loss and intermittent diarrhea. Physical examination revealed craniomegaly, papillomatosis of the oral mucosa and epigastric tenderness. Endoscopically, multiple polyps were seen in the stomach, the duodenum, the terminal ileum, the distal colon and the rectum. Histologically, these lesions were classified as hamartomatous and hyperplastic polyps. In the punctate of the relapsed nodular goitre, neoplastic follicular cells were found. These findings led to the diagnosis of Cowden's disease. A complete thyroidectomy was performed. The histology verified a follicular thyroid carcinoma and showed a combined expression of thyroglobulin and of the neuroendocrine marker synaptophysin (appr. 50% of all tumor cells). Chromogranin A (a neuroendocrine tumor marker) was also elevated in the serum of the patient. Postoperatively, a radioiodine therapy was performed and the clinical condition of the patient has improved ever since. The presented case of Cowden's disease is the first male patient with thyroid carcinoma. Early consideration of Cowden's disease is substantial as multiple malignant neoplasms may occur in this disorder in increased incidence.
authors.affiliation: Abteilung Innere Medizin mit Schwerpunkt Gastroenterologie, Freien Universität Berlin.
authors.forename: T
authors.initials: T
authors.lastname: Marth
authors.forename: A
authors.initials: A
authors.lastname: Schmitt-Gräff
authors.forename: T
authors.initials: T
authors.lastname: Zimmer
authors.forename: E O
authors.initials: EO
authors.lastname: Riecken
authors.forename: B
authors.initials: B
authors.lastname: Wiedenmann
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000473:pathology; D053379:Chromogranin A; D002864:Chromogranins / Q000235:genetics; D005753:Gastric Mucosa / Q000473:pathology; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D018358:Neuroendocrine Tumors / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016708:Synaptophysin / Q000235:genetics; D013954:Thyroglobulin / Q000235:genetics; D013961:Thyroid Gland / Q000473:pathology; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: D014408:Biomarkers, Tumor; D053379:Chromogranin A; D002864:Chromogranins; D016708:Synaptophysin; D013954:Thyroglobulin
vernacular_title: Gastrale Hamartome und Schilddrüsenkarzinom mit follikulärer und neuroendokriner Differenzierung bei Cowden-Syndrom.