Multiple endocrine syndrome type I. Clinical, laboratory findings, and management in five families

Abstract

The clinical features of 20 patients from five families with multiple endocrine neoplasia syndrome type I (MEN-I) were studied. Nineteen patients (95%) had hyperparathyroidism. Five patients who had a diagnosis during surgery of adenoma and who had fewer than 3.5 glands removed had recurrence of hypercalcemia after surgery. Fourteen patients (70%) had pancreatic islet cell tumors. All had one or more elevated serum polypeptide hormones, and six had symptoms related to the hormones produced. Multiple pancreatic tumors were identified in the nine patients who underwent surgery. Three patients who died had a mean survival of 6.3 +/- 2.9 years. Eight patients had pituitary tumors; seven had macroadenomas. Of the eight patients with pituitary tumors, seven had high serum prolactin and responded to bromocriptine therapy, whereas the eighth patient had acromegaly treated with radiotherapy. It was concluded that hypercalcemia due to hyperparathyroidism in MEN-I syndrome patients should be managed by a resection of four glands and transplantation of one half gland into the forearm because none of the patients has shown evidence of a recurrence, and serum calcium levels have been normal. Pancreatic tumors, which are usually multiple, may be asymptomatic. Patients with these tumors usually have long survival rates, even with distant metastasis. Total pancreatectomy may be the method of choice, especially in patients with gastrinoma caused by the diffuse nature of the disease. Long-term follow-up is needed, however, with more patients. Pituitary tumors are primarily prolactin-producing tumors, and medical treatment is the method of choice.

Pituitary Disease in MEN Type 1 (MEN1): Data from the France-Belgium MEN1 Multicenter Study

“…Prolactinomas represent about two thirds of the pituitary adenomas in our MEN1 patients and may be considered as the most frequent pituitary lesion in MEN1, confirming previously reported data obtained in a limited number of patients and families (9,10,13,32). According to our results, the high frequency (85%) of pituitary macroadenomas seems to be an important feature of pituitary disease in MEN1.…”

“…In previous studies, prolactinomas in MEN1 have been considered comparable, in both clinical behavior and response to treatment, to those occurring in non-MEN1 patients (10,35). However, our data, as those of Burgess (36), suggest a more aggressive natural history of prolactinomas in MEN1.…”

“…gium, one would expect a reduced recruitment bias, compared with monocentric reports (10,11,13,19,20). Thus, our extensive, multicenter, and multidisciplinary study gives the opportunity to obtain representative and indicative information on pituitary disease in MEN1.…”

The Impact of Clinical and Genetic Screenings on the Management of the Multiple Endocrine Neoplasia Type 1

“…[18][19][20] However, lower prevalences (18%-21%) have been also documented by others. 21,22 In 17% of MEN1 cases, a pituitary adenoma may be the initial lesion.…”

Análise do status somático dos genes MEN1, AIP e p27Kip1 em tumores de pacientes com neoplasia endócrina múltipla tipo 1

“…A penetrância de tumores hipofisários na NEM1 (HIP/NEM1) é bastante variável, oscilando entre 18-40% (Verges, 2002;Benson, 1987;Samaan, 1989). Aproximadamente 80% dos HIP/NEM1 são macroadenomas, em contraste com 42% de macroadenomas encontrados nos casos com HIP esporádicos (HIPe) (Verges, 2002).…”