[Diagnostic and therapeutic difficulties in MEN 1 syndrome].
MEN 1 syndrome (Multiple Endocrine Neoplasia type 1) is a rare endocrine disorder characterized by the association of tumors in several endocrine glands, mainly in parathyroids, gut and pituitary. At our institution in the years 1982-2004 we have followed 26 patients with MEN 1 syndrome belonging to 19 families. The diagnosis of MEN 1 was based on Gubbio Consensus (JCEM 86: 5658-5671, 2001). Mean age at the diagnosis of MEN 1 was 35 years. Primary hyperparathyroidism was the most frequent pathology, which was diagnosed in 25 of 26 patients (96%). Gut endocrine tumors were found in 20 patients (77%), while pituitary tumors in 18 (70%). Non-functioning gut tumors were most frequent (n=9), followed by insulinoma (n=7) and gastrinoma (n=4). Prolactinoma was the most frequent pituitary tumor found in 12 patients (67%). Three patients died during the observation period - all of them of generalized gut endocrine tumor (gastrinoma in 2 cases and foregut carcinoid in one case). The management of MEN 1 is not easy and careful analysis of clinical picture is necessary in each individual case. Several important observations can be made on the basis of own experience and the literature: 1. In each sporadic pathology, which may be a part of MEN 1, one should consider. the possibility of MEN 1. The individual MEN 1 abnormalities are often diagnosed after 40 and later 2. MEN 1 tumor are usually multiple thus necessitating a different therapeutic approach (more radical surgery) 3. The most valuable screening tests are: Ca++, PP, CgA and prolactin 4. Endoscopic ultrasound is the most specific method for the localization of pancreatic endocrine tumors. 5. The results of surgical treatment of MEN 1 tumors are worse than that of sporadic tumors. 6. Prognosis in MEN 1 is determined by the behaviour of gut neuroendocrine tumor 7. No genotype/phenotype correlation in MEN 1 syndrome was found so far. In summary, it should be underlined that MEN 1 syndrome is an endocrine disorder, in which early diagnosis and optimal treatment may significantly improve the prognosis.
Krassowski
Janusz
J
Department of Endocrinology, Medical Center of Postgraduate Education, Warsaw.
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D015408:Gastrinoma / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D007414:Intestinal Neoplasms / Q000175:diagnosis / Q000628:therapy; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000628:therapy*; D009367:Neoplasm Staging; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000628:therapy; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000628:therapy; D012189:Retrospective Studies; D012307:Risk Factors; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000628:therapy