Multiple endocrine neoplasia type 1 (MEN 1) revisited

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is an inherited disease of the neuroendocrine cell system affecting primarily the parathyroids, pancreas, duodenum and the anterior pituitary. The pancreatic and duodenal turnouts may metastasize, but generally have a low malignant potential. The diagnosis of MEN 1 is usually made in the second decade of life and based on the involvement of at least two organs and a family history. The recent discovery of the MEN 1 locus on the centromeric region of the long arm of chromosome 11 may become a further diagnostic criterion. The use of flanking DNA markers permits presymptomatic testing for MEN 1 in affected families.

Octreotide improves biochemical, radiologic, and symptomatic indices of gastroenteropancreatic neoplasia in patients with multiple endocrine neoplasia type 1 (MEN-1)

“…3 Hyperpararthyroidism develops in Ͼ 95% of patients, with onset usually occurring during the second decade of life. 3,5 Gastroentero-2154 pancreatic (GEP) neoplasia is detected in up to 75% of patients with MEN-1. 1,3,5 Hypergastrinemia diagnostic of gastrinoma usually develops after age 30 years whereas GEP malignancy generally manifests after the fourth decade of life.…”

“…1,3,5 Hypergastrinemia diagnostic of gastrinoma usually develops after age 30 years whereas GEP malignancy generally manifests after the fourth decade of life. 1,3,5 Neuroendocrine tumors of the upper gastrointestinal tract are a major source of MEN-1 related morbidity and mortality. 1,2,6 Gastrinomas are reported to occur in approximately 50% of gene carriers, half of whom ultimately develop metastases.…”

“…7 The anatomic source of gastrin hypersecretion usually is occult, arising from multicentric duodenal and/or pancreatic neuroendocrine lesions, many of which are microscopic. 5,8 We previously described a correlation between hypergastrinemia, neuroendocrine cell hyperplasia, enteropancreatic malignancy, and elevated serum glycoprotein-␣ subunit. 7 The ␣ subunit is expressed in, and secreted by, the hyperplastic enterochromaffinlike (ECL) cells that arise in response to hypergastrinemia in MEN-1.…”

“…13 GEP tumors occurring in MEN-1 patients frequently exhibit plurihormonal immunohistochemical positivity. 5,16 Overtly "nonsecretory" lesions may exhibit positivity for multiple hormone species whereas hypersecretory syndromes can occur in the absence of demonstrable GEP tumors. 5,16 It is likely that in addition to gastrin, other peptide species are elevated in hypergastrinemic MEN-1 patients.…”

“…5,16 Overtly "nonsecretory" lesions may exhibit positivity for multiple hormone species whereas hypersecretory syndromes can occur in the absence of demonstrable GEP tumors. 5,16 It is likely that in addition to gastrin, other peptide species are elevated in hypergastrinemic MEN-1 patients. Some of these species may contribute to both symptomatology and tumorigenesis in MEN-1.…”