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01-06-2009

Screening of Patients with Multiple Endocrine Neoplasia Type 1 (MEN-1): A Critical Analysis of Its Value

Authors: Jens Waldmann, Volker Fendrich, Nils Habbe, Detlef K. Bartsch, Emily P. Slater, Peter H. Kann, Matthias Rothmund, Peter Langer

Published in: World Journal of Surgery | Issue 6/2009

Abstract

Background

Screening of multiple endocrine neoplasia type 1 (MEN-1) patients is widely recommended because one-fifth succumb to malignant neoplasms. However, recommendations for screening modalities and intervals are based mostly on nonprospective data.

Methods

Thirty-five of 48 MEN-1 patients were evaluated at least twice by an annual screening program in a single-center, prospective, nonrandomized study between 1997 and 2006. The screening program comprised anamnesis, clinical examination, imaging procedures, and extensive biochemical evaluations. Prospectively diagnosed lesions were evaluated separately from nonprospectively diagnosed lesions at first evaluation.

Results

The median age of the patients was 45 years (range = 15–70) at initial assessment. They were followed for a median of 72 months (range = 24–108) by a median of 6 (range = 2–10) evaluations. The vast majority of lesions were nonprospectively diagnosed at initial evaluation: 13 of 17 patients had primary hyperparathyroidism (pHPT), 24 of 29 had pancreatic endocrine tumors (PETs), and 4 of 4 had carcinoids. Vice versa adrenal lesions were mostly prospectively detected (18/23). Malignancy was observed in 10 patients (28%) in the initial assessment and without symptoms in 5 patients (9 PETs, 3 carcinoids). Endoscopic ultrasound (EUS) of 29 patients detected 88 PETs which were followed for 157 patient years. The mean annual growing rate was 13.28 ± 28.23 mm with respect to the baseline tumor diameter of 9 mm. In 35 patients the mean incidence of newly diagnosed PETs was 0.52/year. Adrenal lesions were invariably nonfunctional. A mean change in diameter of 6.7 ± 23.44% was monitored and malignant transformation was absent.

Conclusions

Most lesions are detected at initial screening, particularly malignant tumors. Computed tomography of the abdomen and chest did not identify additional lesions. The interval between screenings could be extended to 3 years based on annually calculated growth rates and the incidence of MEN-1-associated lesions. The assessment of calcium, gastrin, and prolactin is sufficient for biochemical screening in MEN-1.

FB Ballard HS, Hartstock RJ (1964) Familial endocrine adenoma-peptic ulcer complex. Medicine (Baltimore) 43:481–516CrossRef

AE Croisier JC, Lubetzki J (1971) L’adenomatose polyendocrinienne (syndrome de Wermer). Semin Hop Paris 47:494–525

Gibril F, Chen YJ, Schrump DS et al (2003) Prospective study of thymic carcinoids in patients with multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 88(3):1066–1081PubMedCrossRef

Marx S, Spiegel AM, Skarulis MC et al (1998) Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med 129(6):484–494PubMed

Brandi ML, Gagel RF, Angeli A et al (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86(12):5658–5671PubMedCrossRef

Burgess JR, Greenaway TM, Shepherd JJ (1998) Expression of the MEN-1 gene in a large kindred with multiple endocrine neoplasia type 1. J Intern Med 243(6):465–470PubMedCrossRef

Darling TN, Skarulis MC, Steinberg SM et al (1997) Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol 133(7):853–857PubMedCrossRef

Duh QY, Hybarger CP, Geist R et al (1987) Carcinoids associated with multiple endocrine neoplasia syndromes. Am J Surg 154(1):142–148PubMedCrossRef

Metz DC (1995) Multiple endocrine neoplasia type I. Semin Gastrointest Dis 6(2):56–66PubMed

10.

Guo SS, Sawicki MP (2001) Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. Mol Endocrinol 15(10):1653–1664PubMedCrossRef

11.

Doherty GM, Olson JA, Frisella MM et al (1998) Lethality of multiple endocrine neoplasia type I. World J Surg 22(6):581-586; discussion 586–587

12.

Dean PG, van Heerden JA, Farley DR et al (2000) Are patients with multiple endocrine neoplasia type I prone to premature death? World J Surg 24(11):1437–1441PubMedCrossRef

13.

Oberg K, Skogseid B, Eriksson B (1989) Multiple endocrine neoplasia type 1 (MEN-1). Clinical, biochemical and genetical investigations. Acta Oncol 28(3):383–387PubMedCrossRef

14.

Lips CJ, Vasen HF, Lamers CB (1984) Multiple endocrine neoplasia syndromes. Crit Rev Oncol Hematol 2(2):117–184PubMedCrossRef

15.

Mignon M, Cadiot G (1998) Diagnostic and therapeutic criteria in patients with Zollinger-Ellison syndrome and multiple endocrine neoplasia type 1. J Intern Med 243(6):489–494PubMedCrossRef

16.

Norton JA, Alexander HR, Fraker DL et al (2001) Comparison of surgical results in patients with advanced and limited disease with multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome. Ann Surg 234(4):495–505; discussion 505–506

17.

Bartsch D, Kopp I, Bergenfelz A et al (1998) Germline mutations in the MEN1 gene: basis for predictive genetic screening and clinical management of multiple endocrine neoplasia type 1 (MEN1) families. Dtsch Med Wochenschr 123(51–52):1535–1540PubMedCrossRef

18.

Skogseid B, Eriksson B, Lundqvist G et al (1991) Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds. J Clin Endocrinol Metab 73(2):281–287PubMedCrossRef

19.

Skogseid B, Oberg K (1992) Prospective screening in multiple endocrine neoplasia type 1. Henry Ford Hosp Med J 40(3–4):167–170PubMed

20.

Gibril F, Venzon DJ, Ojeaburu JV et al (2001) Prospective study of the natural history of gastrinoma in patients with MEN1: definition of an aggressive and a nonaggressive form. J Clin Endocrinol Metab 86(11):5282–5293PubMedCrossRef

21.

Imamura M, Komoto I, Doi R (2005) Recent trend of diagnosis and treatment for Zollinger-Ellison syndrome. Gan To Kagaku Ryoho 32(2):147–151PubMed

22.

Thompson NW (1998) Management of pancreatic endocrine tumors in patients with multiple endocrine neoplasia type 1. Surg Oncol Clin N Am 7(4):881–891PubMed

23.

Thompson NW (1998) Current concepts in the surgical management of multiple endocrine neoplasia type 1 pancreatic-duodenal disease. Results in the treatment of 40 patients with Zollinger-Ellison syndrome, hypoglycaemia or both. J Intern Med 243(6):495–500PubMedCrossRef

24.

Langer P, Cupisti K, Bartsch DK et al (2002) Adrenal involvement in multiple endocrine neoplasia type 1. World J Surg 26(8):891–896PubMedCrossRef

25.

Kopp I, Bartsch D, Wild A et al (2001) Predictive genetic screening and clinical findings in multiple endocrine neoplasia type I families. World J Surg 25(5):610–616PubMedCrossRef

26.

Waldmann J, Bartsch DK, Kann PH et al (2007) Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening. Langenbecks Arch Surg 392(4):437–443PubMedCrossRef

27.

Bartsch DK, Langer P, Wild A et al (2000) Pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1: surgery or surveillance? Surgery 128(6):958–966PubMedCrossRef

28.

Vasen HF, Lamers CB, Lips CJ (1989) Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands. Arch Intern Med 149(12):2717–2722PubMedCrossRef

29.

Chandrasekharappa SC, Guru SC, Manickam P et al (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276(5311):404–407PubMedCrossRef

30.

Ferolla P, Falchetti A, Filosso P et al (2005) Thymic neuroendocrine carcinoma (carcinoid) in MEN1 syndrome: the Italian series. J Clin Endocrinol Metab 90(5):2603–2609PubMedCrossRef

31.

Waterlot C, Porchet N, Bauters C et al (1999) Type 1 multiple endocrine neoplasia (MEN1): contribution of genetic analysis to the screening and follow-up of a large French kindred. Clin Endocrinol (Oxf) 51(1):101–107CrossRef

32.

Teh BT, McArdle J, Chan SP et al (1997) Clinicopathologic studies of thymic carcinoids in multiple endocrine neoplasia type 1. Medicine (Baltimore) 76(1):21–29CrossRef

33.

Skogseid B, Oberg K, Eriksson B et al (1996) Surgery for asymptomatic pancreatic lesion in multiple endocrine neoplasia type I. World J Surg 20(7):872–876; discussion 877

34.

Teh BT, Zedenius J, Kytola S et al (1998) Thymic carcinoids in multiple endocrine neoplasia type 1. Ann Surg 228(1):99–105PubMedCrossRef

35.

Eberle F, Grun R (1981) Multiple endocrine neoplasia, type I (MEN I). Ergeb Inn Med Kinderheilkd 46:76–149PubMed

36.

Marx SJ, Agarwal SK, Kester MB et al (1999) Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Prog Horm Res 54:397–438; discussion 438–439

37.

Thakker RV (2000) Multiple endocrine neoplasia type 1. Endocrinol Metab Clin North Am 29(3):541–567PubMedCrossRef

38.

Trump D, Farren B, Wooding C et al (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM 89(9):653–669PubMed

39.

Burgess JR, Shepherd JJ, Parameswaran V et al (1996) Spectrum of pituitary disease in multiple endocrine neoplasia type 1 (MEN 1): clinical, biochemical, and radiological features of pituitary disease in a large MEN 1 kindred. J Clin Endocrinol Metab 81(7):2642–2646PubMedCrossRef

40.

Chanson P, Cadiot G, Murat A (1997) Management of patients and subjects at risk for multiple endocrine neoplasia type 1: MEN 1. GENEM 1. Groupe d’Etude des Neoplasies Endocriniennes Multiples de type 1. Horm Res 47(4–6):211–220PubMedCrossRef

41.

Karges W, Schaaf L, Dralle H et al (2000) Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia type 1 (MEN1). Exp Clin Endocrinol Diabetes 108(5):334–340PubMedCrossRef

42.

Verges B, Boureille F, Goudet P et al (2002) Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J Clin Endocrinol Metab 87(2):457–465PubMedCrossRef

43.

Gibril F, Schumann M, Pace A et al (2004) Multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: a prospective study of 107 cases and comparison with 1009 cases from the literature. Medicine (Baltimore) 83(1):43–83CrossRef

44.

Triponez F, Dosseh D, Goudet P et al (2006) Epidemiology data on 108 MEN 1 patients from the GTE with isolated nonfunctioning tumors of the pancreas. Ann Surg 243(2):265–272PubMedCrossRef

45.

Kann PH, Balakina E, Ivan D et al (2006) Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. Endocr Relat Cancer 13(4):1195–1202PubMedCrossRef

46.

Thomas-Marques L, Murat A, Delemer B et al (2006) Prospective endoscopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. Am J Gastroenterol 101(2):266–273PubMedCrossRef

47.

Bartsch DK, Fendrich V, Langer P et al (2005) Outcome of duodenopancreatic resections in patients with multiple endocrine neoplasia type 1. Ann Surg 242(6):757–764; discussion 764–766

48.

Langer P, Kann PH, Fendrich V et al (2004) Prospective evaluation of imaging procedures for the detection of pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. World J Surg 28(12):1317–1322PubMedCrossRef

49.

Schaefer S, Shipotko M, Meyer S et al (2008) Natural course of small adrenal lesions in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. Eur J Endocrinol 158(5):699–704PubMedCrossRef

50.

Barzon L, Pasquali C, Grigoletto C et al (2001) Multiple endocrine neoplasia type 1 and adrenal lesions. J Urol 166(1):24–27PubMedCrossRef

51.

Skogseid B, Larsson C, Lindgren PG et al (1992) Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 75(1):76–81PubMedCrossRef

52.

Skogseid B, Rastad J, Gobl A et al (1995) Adrenal lesion in multiple endocrine neoplasia type 1. Surgery 118(6):1077–1082PubMedCrossRef

53.

Geerdink EA, Van der Luijt RB, Lips CJ (2003) Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? Eur J Endocrinol 149(6):577–582PubMedCrossRef

Title: Screening of Patients with Multiple Endocrine Neoplasia Type 1 (MEN-1): A Critical Analysis of Its Value
Authors: Jens Waldmann
Volker Fendrich
Nils Habbe
Detlef K. Bartsch
Emily P. Slater
Peter H. Kann
Matthias Rothmund
Peter Langer
Publication date: 01-06-2009
Publisher: Springer-Verlag
Published in: World Journal of Surgery / Issue 6/2009
Print ISSN: 0364-2313
Electronic ISSN: 1432-2323
DOI: https://doi.org/10.1007/s00268-009-9983-8

2024 ASCO Annual Meeting

Springer Medicine

Screening of Patients with Multiple Endocrine Neoplasia Type 1 (MEN-1): A Critical Analysis of Its Value

Abstract

Background

Methods

Results

Conclusions

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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