Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor: A case report with analyses at the molecular level

Lucio Scopsi, Luca Cozzaglio, Paola Collini, Maria Gullo, Italia Bongarzone, Monica Giarola, Paolo Radice, Leandro Gennari

Research output: Contribution to journalArticle

Abstract

Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.

Original languageEnglish
Pages (from-to)79-90
Number of pages12
JournalEndocrine Pathology
Volume9
Issue number1
Publication statusPublished - 1998

Keywords

  • APC
  • Desmoid tumor
  • Multiple tumors
  • NTRK1
  • Papillary thyroid carcinoma
  • Paraganglioma
  • Pheochromocytoma
  • RET
  • TP53

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pathology and Forensic Medicine

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