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World Journal of Surgical Oncology

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Open Access 01-12-2014 | Research

Diagnosis and surgical treatment of multiple endocrine neoplasia type 2A

Authors: Kun-Long Tang, Yi Lin, Li-Ming Li

Published in: World Journal of Surgical Oncology | Issue 1/2014

Abstract

Background

This study aims to introduce the diagnosis and surgical treatment of the rare disease multiple endocrine neoplasia type 2A (MEN 2A).

Methods

Thirteen cases of MEN 2A were diagnosed as medullary thyroid carcinoma (MTC) and pheochromocytoma by biochemical tests and imaging examination. They were treated by bilateral adrenal tumor excision or laparoscopic surgery.

Results

Nine patients were treated by bilateral adrenal tumor excision and the remaining four were treated by laparoscopic surgery for pheochromocytoma. Ten patients were treated by total thyroidectomy and bilateral lymph nodes dissection and the remaining three were treated by unilateral thyroidectomy for MTC. Up to now, three patients have died of MTC distant metastasis.

Conclusions

We confirmed that MEN 2A can be diagnosed by biochemical tests and imaging examination when genetic testing is not available. Surgical excision is the predominant way to treat MEN 2A; pheochromocytoma should be excised at first when pheochromocytoma and MTC occur simultaneously.

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Raue F, Frank-Raue K: Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics (Sao Paulo). 2012, 67: 69-75.CrossRef

Romei C, Pardi E, Cetani F, Elisei R: Genetic and clinical features of multiple endocrine neoplasia types 1 and 2. J Oncol. 2012, 2012: 705036-PubMedCentralCrossRefPubMed

Macher HC, Martinez-Broca MA, Rubio-Calvo A, Leon-Garcia C, Conde-Sanchez M, Costa A, Navarro E, Guerrero JM: Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum. PLoS One. 2012, 7: e51024-10.1371/journal.pone.0051024.PubMedCentralCrossRefPubMed

Heshmati HM, Hofbauer LC: Multiple endocrine neoplasia type 2: recent progress in diagnosis and management. Eur J Endocrinol. 1997, 137: 572-578. 10.1530/eje.0.1370572.CrossRefPubMed

Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA, Marx SJ: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001, 86: 5658-5671.CrossRefPubMed

Quayle FJ, Fialkowski EA, Benveniste R, Moley JF: Pheochromocytoma penetrance varies by RET mutation in MEN 2A. Surgery. 2007, 142: 800-805. 10.1016/j.surg.2007.09.013.CrossRefPubMed

Akerstrom G, Stalberg P: Surgical management of MEN-1 and −2: state of the art. Surg Clin N Am. 2009, 89: 1047-1068. 10.1016/j.suc.2009.06.016.CrossRefPubMed

Qi XP, Ma JM, Du ZF, Ying RB, Fei J, Jin HY, Han JS, Wang JQ, Chen XL, Chen CY, Liu WT, Lu JJ, Zhang JG, Zhang XN: RET germline mutations identified by exome sequencing in a chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family. PLoS One. 2011, 6: e20353-10.1371/journal.pone.0020353.PubMedCentralCrossRefPubMed

Noll WW: Utility of RET mutation analysis in multiple endocrine neoplasia type 2. Arch Pathol Lab Med. 1999, 123: 1047-1049.PubMed

10.

Hahm JR, Lee MS, Min YK, Lee MK, Kim KW, Nam SJ, Yang JH, Chung JH: Routine measurement of serum calcitonin is useful for early detection of medullary thyroid carcinoma in patients with nodular thyroid diseases. Thyroid. 2001, 11: 73-80. 10.1089/10507250150500694.CrossRefPubMed

11.

Laure Giraudet A, Al Ghulzan A, Aupérin A, Leboulleux S, Chehboun A, Troalen F, Dromain C, Lumbroso J, Baudin E, Schlumberger M: Progression of medullary thyroid carcinoma: assessment with calcitonin and carcinoembryonic antigen doubling times. Eur J Endocrinol. 2008, 158: 239-246. 10.1530/EJE-07-0667.CrossRefPubMed

12.

Tavares MR, Toledo SP, Montenegro FL, Moyses RA, Toledo RA, Sekyia T, Cernea CR, Brandão LG: Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2. Clinics (Sao Paulo). 2012, 67: 149-156. 10.6061/clinics/2012(Sup01)25.CrossRef

13.

Dora JM, Canalli MH, Capp C, Puñales MK, Vieira JG, Maia AL: Normal perioperative serum calcitonin levels in patients with advanced medullary thyroid carcinoma: case report and review of the literature. Thyroid. 2008, 18: 895-899. 10.1089/thy.2007.0231.CrossRefPubMed

14.

Peplinski GR, Norton JA: The predictive value of diagnostic tests for pheochromocytoma. Surgery. 1994, 116: 1101-1109.PubMed

15.

Lenders JW, Pacak K, Walther MM, Linehan WM, Mannelli M, Friberg P, Keiser HR, Goldstein DS, Eisenhofer G: Biochemical diagnosis of pheochromocytoma: which test is best?. JAMA. 2002, 287: 1427-1434.CrossRefPubMed

16.

MacKenzie-Feder J, Sirrs S, Anderson D, Sharif J, Khan A: Primary hyperparathyroidism: an overview. Int J Endocrinol. 2001, 2011: 251410-

17.

Scarsbrook AF, Thakker RV, Wass JA, Gleeson FV, Phillips RR: Multiple endocrine neoplasia: spectrum of radiologic appearances and discussion of a multitechnique imaging approach. Radiographics. 2006, 26: 433-451. 10.1148/rg.262055073.CrossRefPubMed

18.

Marini F, Falchetti A, DelMonte F, Carbonell Sala S, Tognarini I, Luzi E, Brandi ML: Multiple endocrine neoplasia type 2. Orphanet J Rare Dis. 2006, 1: 45-10.1186/1750-1172-1-45.PubMedCentralCrossRefPubMed

19.

Sun FK, Zhang ZB, Wu YX: Surgical incision of the pheochromocytoma. J Clinical Urology. 2001, 2: 54-56. (in Chinese)

20.

Zhou GW, Wei Y, Chen X, Jiang XH, Li XY, Ning G, Li HW: Diagnosis and surgical treatment of multiple endocrine neoplasia. Chin Med J (Engl). 2009, 122: 1495-1500.

21.

Sanso GE, Domene HM, Garcia R, Pusiol E, de M, Roque M, Ring A, Perinetti H, Elsner B, Iorcansky S, Barontini M: Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers. Cancer. 2002, 94: 323-330. 10.1002/cncr.10228.CrossRefPubMed

Title: Diagnosis and surgical treatment of multiple endocrine neoplasia type 2A
Authors: Kun-Long Tang
Yi Lin
Li-Ming Li
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: World Journal of Surgical Oncology / Issue 1/2014
Electronic ISSN: 1477-7819
DOI: https://doi.org/10.1186/1477-7819-12-8

At a glance: The STEP trials

Springer Medicine

Diagnosis and surgical treatment of multiple endocrine neoplasia type 2A

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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