A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report

World Journal of Surgical Oncology

Yasukazu Ikehara²  Yuji Shinzato¹ 

[1] Department of Pediatrics, Chubu Tokushukai Hospital, Teruya 3-20-1, Okinawa City 904-8585, Okinawa Prefecture, Japan;Department of Surgery, Chubu Tokushukai Hospital, Teruya 3-20-1, Okinawa City 904-8585, Okinawa Prefecture, Japan

关键词: Neuroendocrine tumors;    Parathyroid adenoma;    Hypophosphatemia;    Hypercalcemia;    Primary hyperparathyroidism;    Tuberous sclerosis complex;   

Others  :  1137155
DOI  :  10.1186/s12957-015-0520-y

 received in 2014-11-20, accepted in 2015-02-23,  发布年份 2015

【 摘 要 】

The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene. TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.

【 授权许可】

   
2015 Shinzato and Ikehara; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

Figure 6.

Figure 4.

【 参考文献 】

• [1]Curatolo P, Maria BL: Tuberous sclerosis. Handb Clin Neurol 2013, 111:323-31.
• [2]Yin W, Zhu DM, Wang DS, Wang DX, Wu EH, Zhu XY: Parathyroid adenoma with primary hyperparathyroidism and tuberous sclerosis. A case report. Chin Med J 1984, 97:599-602.
• [3]Ilgren EB, Westmoreland D: Tuberous sclerosis: unusual association in four cases. J Clin Pathol 1984, 37:272-8.
• [4]Mortensen LS, Rungby J: Tuberous sclerosis and parathyroid adenoma. J Clin Pathol 1991, 44:961-2.
• [5]National Institute of Neurological Disorders and Stroke (NINDS). National Institute of Health (NIH). Tuberous Sclerosis Fact Sheet. 2015. http://www.ninds.nih.gov/disorders/tuberous_sclerosis. Accessed 17 Feb 2015.
• [6]Japan Intractable Research Foundation. Japan Intractable Diseases Information Center. 2014. http://www.nanbyou.or.jp. Accessed 17 Feb 2015. [in Japanese]
• [7]Obara T: Diagnosis and treatment of primary-hyperparathyroidism. Nihon Naibunpi Gakkai Zasshi 1992, 68:1167-76. [in Japanese]
• [8]Knudson AG Jr: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971, 68:820-3.
• [9]Sepp T, Yates JR, Green AJ: Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 1996, 33:962-4.
• [10]Ouyang T, Zhang N, Benjamin T, Wang L, Jiao J, Zhao Y, et al.: Subependymal giant cell astrocytoma: current concepts, management, and future directions. Childs Nerv Syst 2014, 30:561-70.
• [11]Green AJ, Smith M, Yates JR: Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994, 6:193-6.
• [12]Carbonara C, Longa L, Grosso E, Borrone C, Garrè MG, Brisigotti M, et al.: 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 1994, 3:1829-32.
• [13]Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, et al.: Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996, 59:400-6.
• [14]Huang J, Manning BD: The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J 2008, 412:179-90.
• [15]Crino PB, Nathanson KL, Henske EP: The tuberous sclerosis complex. N Engl J Med 2006, 355:1345-56.
• [16]Curatolo P, Moavero R: mTOR Inhibitors in tuberous sclerosis complex. Curr Neuropharmacol 2012, 10:404-15.
• [17]Budde K, Gaedeke J: Tuberous sclerosis complex-associated angiomyolipomas: focus on mTOR inhibition. Am J Kidney Dis 2012, 59:276-83.
• [18]Dworakowska D, Grossman AB: Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review. Endocr Relat Cancer 2009, 16:45-58.
• [19]Díaz Díaz D, Ibarrola C, Goméz Sanz R, Pérez Hurtado B, Salazar Tabares J, Colina Ruizdelgado F: Neuroendocrine tumor of the pancreas in a patient with tuberous sclerosis: a case report and review of the literature. Int J Surg Pathol 2012, 20:390-5.
• [20]Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, et al.: DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011, 331:1199-203.