CONCURRENT PHEOCHROMOCYTOMA, PARAGANGLIOMA, PAPILLARY THYROID-CARCINOMA, AND DESMOID TUMOR - A CASE-REPORT WITH ANALYSES AT THE MOLECULAR-LEVEL

Reports on the association of papillary thyroid carcinoma with paragan glionic or desmoid tumors have appeared infrequently. The former setti ng usually affects middle-aged females; the latter is typical of famil ial adenomatous polyposis. We report the case of a 69-yr-old man in wh om two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asy mptomatic and an impalpable thyroid nodule was detected by ultrasonogr aphy. A high urinary noradrenaline output and cytology of the masses r aised the suspicion of pheochromocytoma. At laparotomy, an adrenal phe ochromocytoma and a paracaval paraganglioma were excised, Subsequently , hemithyroidectomy was performed, and histopathology revealed papilla ry 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 assaye d in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germli ne defect by linkage analyses. Should this unusual aggregation of tumo rs represent a new entity, a number of genetic alterations have now be en excluded.