Case Report
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A case of medullary thyroid carcinoma presenting with diarrhea: MEN 2B syndrome

Year 2017, Volume: 56 Issue: 3, 160 - 161, 01.09.2017
https://doi.org/10.19161/etd.394375

Abstract

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant process characterized by medullary thyroid carcinoma, pheochromocytoma, physical features such as presence of marfanoid habitus and mucosal neuromas. Clinical features are hypertension, episodic sweating, diarrhea, pruritic skin lesions or compressive symptoms from a neck mass. Patients with hypercalcemia may present with constipation, polyuria, polydipsia, memory problems, depression, nephrolithiasis, glucose intolerance, gastroesophageal reflux and fatigue, or they may have no symptoms. Herein we present a case of a patient who was hospitalised several times due to diarrhea but did not diagnosed, but when he referred to our clinic diagnosed as MEN 2B, on the basis of bilateral pheochromocytoma, medullary thyroid carcinoma, multiple paragangliomas located along the spine, marfanoid features of body habitus and mucosal neuromas.

References

  • Özgen AG, Hamulu F, Bayraktar F, et al. Evaluation of routine basal serum calcitonin measurement for early diagnosis of medullary thyroid carcinoma in seven hundred seventy-three patients with nodular goiter. Thyroid 1999; 9(6):579-82.
  • Yip L, Cote GJ, Shapiro SE, et al. Multiple endocrine neoplasia type 2: Evaluation of the genotype-phenotype relationship. Arch Surg 2003;138(4):409-16.
  • Karges W, Dralle H, Raue F, et al. Calcitonin measurement to detect medullary thyroid carcinoma in nodular goiter: German evidence-based consensus recommendation. Exp Clin Endocrinol Diabetes 2004;112(1):52-8.
  • Machens A, Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 2007;31(5):957-68.
  • Bikas A, Vachhani S, Jensen K, Vasko V, Burman KD. Targeted therapies in thyroid cancer: An extensive review of the literature. Expert Rev Clin Pharmacol 2016;15(1):1-15.
  • Vitale G1, Lupoli G, Guarrasi R, et al. Interleukin-2 and lanreotide in the treatment of medullary thyroid cancer: In vitro and in vivo studies.Clin Endocrinol Metab 2013;98(10):E1567-74.
  • Iten F, Müller B, Schindler C, et al. Response to [90Yttrium-DOTA]-TOC treatment is associated with long-term survival benefit in metastasized medullary thyroid cancer: A phase II clinical trial. Clin Cancer Res 2007;13(22Pt1):6696-702.
  • Zhang J, Yang PL, Gray NS. Targeting cancer with small molecule kinase inhibitors. Nat Rev Cancer 2009;9(1):28.

İshal ile başvuran bir medüller tiroid kanseri olgusu: MEN 2B sendromu

Year 2017, Volume: 56 Issue: 3, 160 - 161, 01.09.2017
https://doi.org/10.19161/etd.394375

Abstract

Multipl endokrin neoplazi tip 2B (MEN 2B) otozomal dominant geçişli, medüller tiroid kanseri, feokromositoma, marfanoid görünüm ve mukozal nöromlarla karakterize bir sendromdur. Hastalık zamanı esas semptomlar; hipertansiyon, aşırı terleme, ishal, cilt lezyonları, boyun kitlesine bağlı kompressiyon, hiperkalsemiye bağlı poliuri, polidipsi, depresyon, böbrek taşı ve gastroezofajial reflüdür. Bu yazıda, pek çok kez tek bir diyare şikayeti nedeniyle hospitalize edilse de tanısı konulamamış, kliniğimize başvurduğunda bilateral feokromositoma, medüller tiroid kanseri, marfanoid görünüm, mukozal nörinomlar, sırtta paragangliomlar nedeniyle MEN 2B sendromu tanısı alan bir olgu sunulmaktadır.

References

  • Özgen AG, Hamulu F, Bayraktar F, et al. Evaluation of routine basal serum calcitonin measurement for early diagnosis of medullary thyroid carcinoma in seven hundred seventy-three patients with nodular goiter. Thyroid 1999; 9(6):579-82.
  • Yip L, Cote GJ, Shapiro SE, et al. Multiple endocrine neoplasia type 2: Evaluation of the genotype-phenotype relationship. Arch Surg 2003;138(4):409-16.
  • Karges W, Dralle H, Raue F, et al. Calcitonin measurement to detect medullary thyroid carcinoma in nodular goiter: German evidence-based consensus recommendation. Exp Clin Endocrinol Diabetes 2004;112(1):52-8.
  • Machens A, Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 2007;31(5):957-68.
  • Bikas A, Vachhani S, Jensen K, Vasko V, Burman KD. Targeted therapies in thyroid cancer: An extensive review of the literature. Expert Rev Clin Pharmacol 2016;15(1):1-15.
  • Vitale G1, Lupoli G, Guarrasi R, et al. Interleukin-2 and lanreotide in the treatment of medullary thyroid cancer: In vitro and in vivo studies.Clin Endocrinol Metab 2013;98(10):E1567-74.
  • Iten F, Müller B, Schindler C, et al. Response to [90Yttrium-DOTA]-TOC treatment is associated with long-term survival benefit in metastasized medullary thyroid cancer: A phase II clinical trial. Clin Cancer Res 2007;13(22Pt1):6696-702.
  • Zhang J, Yang PL, Gray NS. Targeting cancer with small molecule kinase inhibitors. Nat Rev Cancer 2009;9(1):28.
There are 8 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Reports
Authors

Elvina Almuradova 0000-0002-5551-7731

İlgın Yıldırım Şimşir 0000-0002-6801-8499

Mehmet Erdoğan 0000-0002-0300-3923

Şevki Çetinkalp 0000-0001-6072-2062

Füsun Saygılı 0000-0002-4451-6530

Ahmet Gökhan Özgen 0000-0003-0533-3122

Publication Date September 1, 2017
Submission Date August 12, 2016
Published in Issue Year 2017Volume: 56 Issue: 3

Cite

Vancouver Almuradova E, Yıldırım Şimşir İ, Erdoğan M, Çetinkalp Ş, Saygılı F, Özgen AG. İshal ile başvuran bir medüller tiroid kanseri olgusu: MEN 2B sendromu. EJM. 2017;56(3):160-1.

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