J Korean Med Sci.  2012 May;27(5):560-564. 10.3346/jkms.2012.27.5.560.

A Rare Case of Primary Hyperparathyroidism Associated with Primary Aldosteronism, Hurthle Cell Thyroid Cancer and Meningioma

• Kim YL
• Jang YW
• Kim JT
• Sung SA
• Lee TS
• Lee WM
• Kim HJ

• KMID: 1372802
• DOI: http://doi.org/10.3346/jkms.2012.27.5.560

Abstract

Multiple endocrine neoplasia type 1 (MEN1) syndrome includes varying combinations of endocrine and non-endocrine tumors. There are also a considerable number of atypical MEN1 syndrome. In this case, a 68-yr-old woman was referred to the Department of Endocrinology for hypercalcemia. Five years ago, she had diagnosed as primary hyperaldosteronism and now newly diagnosed as parathyroid hyperplasia with laboratory and pathologic findings. Hurthle-cell thyroid cancer was also resected during the parathyroid exploration and small meningioma was found on brain MRI. Her general condition has markedly improved and her adrenal mass and meningioma are being closely observed now. We could find the loss of heterozygosity of the MEN1 locus in parathyroid glands, suggesting a MEN1-related tumor, but not a germline mutation. Considering a variety of phenotypic expression and a limitation of current molecular analysis, periodic follow up will be needed in patients with a MEN1-like phenotype.

Keyword

Hyperparathyroidism; Primary Hyperaldosteronism; Thyroid Cancer, Hurthle-cell; Meningioma

MeSH Terms

Aged
Base Sequence
Brain/radionuclide imaging
Female
Humans
Hyperaldosteronism/complications/*diagnosis
Hyperparathyroidism, Primary/*diagnosis/etiology/pathology
Loss of Heterozygosity
Magnetic Resonance Imaging
Meningeal Neoplasms/complications/*diagnosis/radionuclide imaging
Meningioma/complications/*diagnosis/radionuclide imaging
Mutation
Parathyroid Glands/pathology
Proto-Oncogene Proteins/genetics/metabolism
Sequence Analysis, DNA
Thyroid Neoplasms/complications/*diagnosis/pathology
Tomography, X-Ray Computed

Figure

• 

  Fig. 1 The serial radiologic findings of adrenal lesion. (A) The first CT scan showed a 1-cm round nodule in left adrenal gland (1.1 × 1 cm). (B) The size of it slightly increased (1.4 × 1.2 cm) on the following CT scan three years later.

• 

  Fig. 2 The radiologic and pathologic findings of parathyroid glands. (A) Parathyroid MIBI scan showed an increased uptake in the right superior/inferior and left inferior glands. (B) The pathological diagnosis of the resected parathyroid glands were chief cell hyperplasia, H&E stain, × 200.

• 

  Fig. 3 The radiologic and pathologic findings of thyroid glands. (A) Multiple thyroid nodules were incidentally found in preoperative neck US. (B, C) The resected tumor of thyroid gland shows a capsular invasion, consisting solid Hürthle-cells and variable sized follicles, suggestive of Hürthle-cell carcinoma. H&E stain, B × 20; C × 400.

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  Fig. 4 In the left parasagital-frontoparietal convexity of brain MRI, a small meningioma (2.1 × 2.0 × 1.4 cm) was newly detected.

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  Fig. 5 Direct sequence analysis of all coding exons of MEN1 of the patient. (A) Blood cell DNA failed to show a germline mutation. (B) DNA from the parathyroid hyperplasia showed a LOH of the MEN1 locus at codon 1269 (C1269T), in exon 9. (C) On the other hand, LOH of MEN1 locus was not detected in DNA from the thyroid tissue.

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