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

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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 ofRET, APC, andTP53 gene mutations, and ofRET andNTRK1 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.

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Author notes

  1. Lucio Scopsi MD, DMSc

    Present address: , Via Carignano, 9-54035, Fosdinovo, Italy

  2. Luca Cozzaglio MD & Leandro Gennari MD

    Present address: Division of Surgery of Digestive Tract, Istituto Clinico Humanitas, Rozzano, Addenbrooke’s Hospital, Hills Road, CB2 2QQ, Cambridge, UK

  3. Monica Giarola BSc

    Present address: CRC Human Cancer Genetics Research Group, Addenbrooke’s Hospital, Hills Road, CB2 2QQ, Cambridge, UK

Authors and Affiliations

  1. Endocrinology Unit, Istituto Nazionale Tumori, Milan, Italy

    Lucio Scopsi MD, DMSc

  2. Division of Surgical Oncology A, Istituto Nazionale Tumori, Milan, Italy

    Luca Cozzaglio MD & Leandro Gennari MD

  3. Division of Pathological Anatomy, Istituto Nazionale Tumori, Milan, Italy

    Paola Collini MD & Maria Gullo BSc

  4. Division of Experimental Oncology A, Istituto Nazionale Tumori, Milan, Italy

    Italia Bongarzone PhD, Monica Giarola BSc & Paolo Radice PhD

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  1. Lucio Scopsi MD, DMSc
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Scopsi, L., Cozzaglio, L., Collini, P. et al. Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor: A case report with analyses at the molecular level. Endocr Pathol 9, 79–90 (1998). https://doi.org/10.1007/BF02739955

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