Display options
Cite
Rasquin L, Prater J, Mayrin J, et al. Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation. Case Rep Endocrinol. 2018;2018:6358485doi: 10.1155/2018/6358485.
Rasquin, L., Prater, J., Mayrin, J., & Minimo, C. (2018). Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation. Case reports in endocrinology, 20186358485. https://doi.org/10.1155/2018/6358485
Rasquin, Lorena, et al. "Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation." Case reports in endocrinology vol. 2018 (2018): 6358485. doi: https://doi.org/10.1155/2018/6358485
Rasquin L, Prater J, Mayrin J, Minimo C. Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation. Case Rep Endocrinol. 2018 Oct 14;2018:6358485. doi: 10.1155/2018/6358485. eCollection 2018. PMID: 30405919; PMCID: PMC6204204.
Copy Download .nbib Format: NLM
Share it on

Case Rep Endocrinol. 2018 Oct 14;2018:6358485. doi: 10.1155/2018/6358485. eCollection 2018.

Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation.

Case reports in endocrinology

Lorena Rasquin, Janna Prater, Jane Mayrin, Corrado Minimo

Affiliations

  1. Einstein Medical Center, 5501 Old York Rd., Philadelphia, PA 19141, USA.

PMID: 30405919 PMCID: PMC6204204 DOI: 10.1155/2018/6358485

Abstract

BACKGROUND: Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3

CASE: 32-year-old male with incidental liver mass during laparoscopy for acute appendicitis. His symptoms included abdominal pain and profuse axillary hyperhidrosis. MRI showed an 11x12x14 cm cystic and solid mass in right adrenal gland, and 3.4x2.9x3.8 cm mass in porta hepatis. Urine metanephrines was elevated. After preoperative alpha-blockade, patient underwent total right adrenalectomy. Pathology report confirmed diagnosis of pheochromocytoma. According to the Grading system for Adrenal Pheochromocytoma and Paraganglioma (GAPP), tumor's score was 9, indicating poorly differentiated tumor. Ki67 index 5% and S100 were negative. Postoperatively, plasma free metanephrines normalized but plasma free normetanephrines remained elevated. Based on this biochemical profile, presence of paraganglioma was suspected. CT showed 4.2x3.5 cm round soft tissue mass in porta hepatis which increased in size from previous MRI. Simultaneously, PET scan identified a 1.5 cm thyroid mass. Calcitonin level was normal. Fine-needle aspiration was consistent with PTC. Resection of the mass and total thyroidectomy were performed with confirmation of paraganglioma S100 positive and PTC. Normetanephrines decreased to 283 (<148 pg/mL); free metanephrines remained normal. Gene mutation of EGLN1, FH, KIF1B, MEN1, NF1, RET, SDHAF2, SDHC, SDHD, TMEM127, VHL, and SDHA was negative.

CONCLUSION: Whether paraganglioma/pheochromocytoma/PTC combination is coincidental or resulted from an underlying unknown mutation cannot be excluded.

References

  1. PLoS One. 2017 Nov 8;12(11):e0187398 - PubMed
  2. Fam Cancer. 2015 Dec;14(4):603-7 - PubMed
  3. Endocr J. 2007 Apr;54(2):227-31 - PubMed
  4. Clin Cancer Res. 2009 Oct 15;15(20):6378-85 - PubMed
  5. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42 - PubMed
  6. J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27 - PubMed

Publication Types