Kosin Med J.  2018 Dec;33(3):446-453. 10.7180/kmj.2018.33.3.446.

A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma

Affiliations
  • 1Department of Internal Medicine, school of medicine, Catholic university of Daegu, Daegu, Korea. jed15@cu.ac.kr
  • 2Department of Pathology, School of medicine, Catholic university of Daegu, Daegu, Korea.

Abstract

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4-12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.

Keyword

Pheochromocytoma; RET gene mutation; Von-Hippel-Lindau (VHL) disease

MeSH Terms

Carcinoma, Renal Cell*
Humans
Male
Middle Aged
Multiple Endocrine Neoplasia
Pheochromocytoma*
Thyroid Neoplasms

Figure

  • Fig. 1 Abdominal CT revealed a 3-cm solid, homogenous mass in the right adrenal gland.

  • Fig. 2 A 2.5-cm enhancing mass on the lower pole of the left kidney in abdominal CT

  • Fig. 3 Fig. 3A. Renal cell carcinoma in the left kidney (Stain: H&E, magnification, ×100). Fig. 3B. Pheochromocytoma in the right adrenal gland. Tumor cells are arranged in well-defined nests surrounded by thin fibrovascular stroma. The cytoplasm is fine, granular, and basophilic (Stain: H&E, magnification, ×200). Fig. 3C. Periphery of the tumor nests show sustentacular cells immunohistochemically stained for S-100. (magnification, ×200)

  • Fig. 4 RET gene mutation analysis revealed that the patient had a novel missense mutation (exon 15, 2611G>A, Val871IIe).

  • Fig. 5 (A) Transverse view of the left thyroid gland. (B) Longitudinal view of the left thyroid gland.


Reference

1. Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011; 19:617–623.
Article
2. Wiench M, Wygoda Z, Gubala E, Wloch J, Lisowska K, Krassowski J, et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol. 2001; 19:1374–1380.
Article
3. Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014; 99:1915–1942.
Article
4. Costa MH, Ortiga-Carvalho TM, Violante AD, Vaisman M. Pheochromocytomas and paragangliomas: clinical and genetic approaches. Front Endocrinol (Lausanne). 2015; 6:126.
Article
5. Kumarasamy VM, Shin YJ, White J, Sun D. Selective repression of RET proto-oncogene in medullary thyroid carcinoma by a natural alkaloid berberine. BMC Cancer. 2015; 15:599.
Article
6. Michiels FM, Billaud M. [The RET gene in thyroid pathology]. Arch Anat Cytol Pathol. 1998; 46:19–30.
7. Friedrich CA. Von Hippel-Lindau syndrome. A pleomorphic condition. Cancer. 1999; 86:2478–2482.
8. Nao T, Shimamoto T, Karashima T, Kamei M, Fukuhara H, Fukata S, et al. [Clinical study on patients with renal-cell carcinoma accompanied with Von Hippel-Lindau disease treated with radiofrequency ablation]. Hinyokika Kiyo. 2014; 60:415–420.
9. Webster AR, Richards FM, MacRonald FE, Moore AT, Maher ER. An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet. 1998; 63:1025–1035.
Article
10. de Crea C, Raffaelli M, Maccora D, Carrozza C, Canu G, Fadda G, et al. Calcitonin measurement in fine-needle aspirate washouts vs. cytologic examination for diagnosis of primary or metastatic medullary thyroid carcinoma. Acta Otorhinolaryngol Ital. 2014; 34:399–405.
11. Dralle H, Gimm O, Simon D, Frank-Raue K, Görtz G, Niederle B, et al. Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience. World J Surg. 1998; 22:744–750.
Article
12. American Thyroid Association Guidelines Task Force. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009; 19:565–612.
Article
Full Text Links
  • KMJ
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr