The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
권호 표지

A case of breast cancer in a patient with multiple endocrine neoplasia type 2

유방암을 동반한 제2형 다발성 내분비 선종증 1예

  • Roh, Jung-Min (Department of Internal Medicine, Yonsei University College of Medicine) ;
  • Lee, Yoon-Bum (Department of Internal Medicine, Yonsei University College of Medicine) ;
  • An, Hye-Rim (Department of Internal Medicine, Yonsei University College of Medicine) ;
  • Shim, Woo-Ho (Department of Internal Medicine, Yonsei University College of Medicine) ;
  • Lee, Eun-Hae (Department of Internal Medicine, Yonsei University College of Medicine) ;
  • Hong, Soon-Won (Department of Pathology, Yonsei University College of Medicine) ;
  • Cho, Min-Ho (Department of Internal Medicine, Yonsei University College of Medicine)
  • 노정민 (연세대학교 의과대학 내과학교실) ;
  • 이윤범 (연세대학교 의과대학 내과학교실) ;
  • 안혜림 (연세대학교 의과대학 내과학교실) ;
  • 심우호 (연세대학교 의과대학 내과학교실) ;
  • 이은해 (연세대학교 의과대학 내과학교실) ;
  • 홍순원 (연세대학교 의과대학 병리학교실) ;
  • 조민호 (연세대학교 의과대학 내과학교실)
  • Received : 2009.08.25
  • Accepted : 2009.10.26
  • Published : 2010.10.01
⟨ Previous Next ⟩

Abstract

Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and other hyperplasias or neoplasias of different endocrine tissues within a single patient. Simultaneous occurrence of MEN2 and other cancers that are derived from different origins is rare. In this report, we present a patient with known MEN2 who developed breast cancer as a result of invasive ductal carcinoma. The patient underwent total thyroidectomy and unilateral adrenalectomy due to medullary thyroid cancer and pheochromocytoma. Although patients with MEN2 may demonstrate a variety of neoplastic disorders, it is difficult to identify a case report of MEN2 with breast cancer. In addition, no etiological relationships between breast cancer and MEN2 have been reported to date. Thus, here we report a case of known MEN2 with breast cancer and present a review of the literature.

제2형 다발성 내분비 선종은 한 환자에게서 갑상선수질암, 갈색세포종과 다른 내분비 조직의 과형성 혹은 종양 형성을 특징으로 하는 희귀한 유전성 질환이다. MEN2는 여러종류의 종양을 발생시키지만 유방암과 같이 다른 기원을 가지는 종양을 동반하는 경우는 매우 드문 일이며 아직까지 MEN2와 유방암 발생의 병태생리적인 관계는 잘 알려져 있지 않다. 저자들은 갑상선수질암과 갈색세포종으로 진단된 MEN2 환자에서 유방암이 병발된 1예를 경험하였기에 문헌고찰과 함께 보고한다.

Keywords

References

  1. Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Tognarini I, Luzi E, Brandi ML. Multiple endocrine neoplasia type 2. Orphanet J Rare Dis 1:45, 2006 https://doi.org/10.1186/1750-1172-1-45
  2. Raue F, Frank-Raue K. Multiple endocrine neoplasia type 2: 2007 update. Horm Res 68(Suppl 5):101-104, 2007 https://doi.org/10.1159/000112114
  3. Kim SW, Lee BJ, Kim JY, Lee KD, Lee BJ, Kim IJ. Analysis of RET gene point mutation with multiple endocrine neoplasia type 2B. J Clin Otolaryngol 18:79-85, 2007
  4. Callender GG, Rich TA, Perrier ND. Multiple endocrine neoplasia syndromes. Surg Clin North Am 88:863-895, 2008 https://doi.org/10.1016/j.suc.2008.05.001
  5. Quayle FJ, Fialkowski EA, Benveniste R, Moley JF. Pheochromocytoma penetrance varies by RET mutation in MEN2A. Surgery 142:800-805, 2007 https://doi.org/10.1016/j.surg.2007.09.013
  6. Rodriguez JM, Balsalobre M, Ponce JL, Rios A, Torregrosa NM, Tebar J, Parrilla P. Pheochromocytoma in MEN2A syndrome: study of 54 patients. World J Surg 32:2520-2526, 2008 https://doi.org/10.1007/s00268-008-9734-2
  7. Philip M, Guerrero MA, Evans DB, Hunter GJ, Edeiken-Monroe BS, Vu T, Perrier ND. Efficacy of 4D-CT preoperative localization in 2 patients with MEN2A. J Surg Educ 65:182-185, 2008 https://doi.org/10.1016/j.jsurg.2008.02.003
  8. Lodish MB, Stratakis CA. RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther 8:625-632, 2008 https://doi.org/10.1586/14737140.8.4.625
  9. Menko FH, van der Luijt RB, De Valk IA, Toorians AW, Sepers JM, van Diest PJ, Lips CJ. Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab 87:393-397, 2002 https://doi.org/10.1210/jc.87.1.393
  10. Forrest CH, Frost FA, de Boer WB, Spagnolo DV, Whitaker D, Sterrett BF. Medullary carcinoma of the thyroid: accuracy of diagnosis by fine-needle aspiration cytology. Cancer 84:295-302, 1998 https://doi.org/10.1002/(SICI)1097-0142(19981025)84:5<295::AID-CNCR5>3.0.CO;2-J
  11. Pyke CM, Hay ID, Goellner JR, Berqstralh EJ, van Heerden JA, Grant CS. Prognostic significance of calcitonin immunoreactivity, amyloid staining, and flow cytometric DNA measurements in medullary tyroid carcinoma. Surgery 110:964-971, 1991
  12. Mijatovic J, Patrikainen O, Yavich L, Airavaara M, Ahtee L, Saarma M, Piepponen TP. Characterization of the striatal dopaminergic neurotransmission in MEN2B mice with elevated cerebral tissue dopamine. J Neurochem 105:1716-1725, 2008 https://doi.org/10.1111/j.1471-4159.2008.05265.x
  13. Fialkowski EA, DeBenedetti MK, Moley JF, Bachrach B. RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. J Pediatr Surg 43:188-190, 2008 https://doi.org/10.1016/j.jpedsurg.2007.09.043
  14. Kim NH, Kim JH, Nam JH, Park JP, Park JE, Choi YS, Park YH. A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene. Korean J Med 70: 448-454, 2006
  15. Yun SW, Yoo WS, Hong KH, Kim BH, Kang MH, Choo YK, Park HY, Kim DH, Chung HK, Chang MC, Kwon MS, Kim HJ. A family of multiple endocrine neoplasia type 2A with a C634R mutation and a G691S polymorphism in RET proto-oncogene. J Korean Soc Endocrinol 22:453-459, 2007 https://doi.org/10.3803/jkes.2007.22.6.453
  16. Machens A, Dralle H. Multiple endocrine neoplasia type 2 and the RET protooncogene: from bedside to bench to bedside. Mol Cell Endocrinol 247:34-40, 2006 https://doi.org/10.1016/j.mce.2005.10.028
  17. Kim JH, Jeon EK, Kimg KH, Maeng LS, Yoo SJ, Han JH, Moon SD. Two cases of RET proto-oncogene mutaton in multiple endocrine neoplasia type 2a. Korean J Med 73(Suppl):S994-S1002, 2007
  18. Boulay A, Breuleux M, Stephan C, Fux C, Brisken C, Fiche M, Wartmann M, Stumm M, Lane HA, Hynes NE. The RET receptor tyrosine kinase pathway functionally interacts with the ERalpha pathway in breast cancer. Cancer Res 68:3743-3751, 2008 https://doi.org/10.1158/0008-5472.CAN-07-5100
  19. Esseghir S, Todd SK, Hunt T, Poulsom R, Plaza-Menacho I, Reis-Filho JS, Isacke CM. A role for glial cell derived neurotrophic factor induced expression by inflammatory cytokines and RET/GFR alpha 1 receptor up-regulation in breast cancer. Cancer Res 67:11732-11741, 2007 https://doi.org/10.1158/0008-5472.CAN-07-2343