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

• Kwon JW
• Jung ED
• Jeon EJ
• Park JK
• Lee JK
• Cho CH

• KMID: 2442558
• DOI: http://doi.org/10.7180/kmj.2018.33.3.446

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

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

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

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  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)

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

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

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