J Korean Endocr Soc.  2009 Dec;24(4):265-271. 10.3803/jkes.2009.24.4.265.

Ectopic ACTH Syndrome with Bilateral Pheochromocytoma in Multiple Endocrine Neoplasia Type 2A

• Moon JM
• Kim YJ
• Seo YJ
• Choi HY
• Kim JH
• Park JR
• Lee YJ
• Kim HY
• Kim SG
• Choi DS

• KMID: 1468546
• DOI: http://doi.org/10.3803/jkes.2009.24.4.265

Abstract

Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN 2A arises due to a germline missense mutation of the RET proto-oncogene. Specific RET mutation analysis has revolutionized the diagnosis and therapy of this disorder, and early thyroidectomy may have lowered the morbidity and mortality associated with these diseases. Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of ACTH outside of the pituitary gland; the most common causes are malignancies, but rarely adrenal pheochromocytoma may be the cause.

Keyword

ACTH syndrome; ectopic; multiple endocrine neoplasia type 2A; pheochromocytoma

MeSH Terms

ACTH Syndrome, Ectopic
Adrenocorticotropic Hormone
Cushing Syndrome
Hyperparathyroidism
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 2a
Mutation, Missense
Pheochromocytoma
Proto-Oncogenes
Thyroid Neoplasms
Thyroidectomy
Adrenocorticotropic Hormone

Figure

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  Fig. 1 Abdominal CT scan. heterogeneous large round mass with internal cystic changes in the left adrenal gland, and two focal 2.5 cm enhancing masses in the right adrenal gland (arrow).

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  Fig. 2 The 131I-MIBG scan. increased radioactivity in both adrenal glands and the thyroid area in the 48 hour delayed image (arrows).

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  Fig. 3 F-18 FDG PET CT. focal hypermetabolic lesion in the left thyroid gland (arrowhead), mild hypermetabolic lesion in the right thyroid gland suggesting a malignancy and heterogeneous hypermetabolic masses in both adrenal glands (arrows).

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  Fig. 4 Tc-99m Pertechnetate sestamibi parathyroid scan. No residual uptake in parathyroid glands - elevated calcium and elevated intact PTH levels were considered to reflect parathyroid hyperplasia.

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  Fig. 5 Microscopic findings of the pheochromocytoma. A. Alveolar arrangement of tumor cells, a capillary network around each group of cells - Individual tumor cells have granular and basophilic cytoplasm (H&E stain, ×200). B. Immunostaining revealed focal positivity of ACTH (×200).

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