Tags

Type your tag names separated by a space and hit enter

Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours.
Br J Surg. 2003 Dec; 90(12):1599-603.BJ

Abstract

BACKGROUND

The appropriate treatment for a sporadic endocrine tumour may be different from those that present as part of the multiple endocrine neoplasia type 1 (MEN1) syndrome. As primary hyperparathyroidism (pHPT) and pancreaticoduodenal endocrine tumours (PETs) are the most common organ manifestations of MEN1, the prevalence of germline mutations in the MEN1 gene was determined in young patients with apparently sporadic pHPT or PETs.

METHODS

Eighteen of 705 patients with pHPT and 11 of 93 patients with PETs operated on between 1987 and 2001 had no family history of MEN1, only one organ manifestation and were aged 40 years or less at the time of diagnosis. Fifteen patients with pHPT and eight with PETs agreed to MEN1 gene mutation analysis, which was performed by single-strand conformational variant analysis and direct DNA sequencing.

RESULTS

Two of 15 patients (13.3 (95 per cent confidence interval (c.i.) 1.6 to 40.4) per cent) with apparently sporadic pHPT had a MEN1 germline mutation. Both mutations were found in patients with pHPT due to multiglandular disease, whereas the remaining 13 patients had a solitary adenoma. None of the eight patients with PETs carried a MEN1 germline mutation.

CONCLUSION

Sporadic pHPT due to multiglandular disease in patients younger than 40 years may represent the first organ manifestation of MEN1 despite a negative family history.

Authors+Show Affiliations

Department of General Surgery, Philipps University Marburg, Marburg, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

14648742

Citation

Langer, P, et al. "Prevalence of Multiple Endocrine Neoplasia Type 1 in Young Patients With Apparently Sporadic Primary Hyperparathyroidism or Pancreaticoduodenal Endocrine Tumours." The British Journal of Surgery, vol. 90, no. 12, 2003, pp. 1599-603.
Langer P, Wild A, Hall A, et al. Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours. Br J Surg. 2003;90(12):1599-603.
Langer, P., Wild, A., Hall, A., Celik, I., Rothmund, M., & Bartsch, D. K. (2003). Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours. The British Journal of Surgery, 90(12), 1599-603.
Langer P, et al. Prevalence of Multiple Endocrine Neoplasia Type 1 in Young Patients With Apparently Sporadic Primary Hyperparathyroidism or Pancreaticoduodenal Endocrine Tumours. Br J Surg. 2003;90(12):1599-603. PubMed PMID: 14648742.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours. AU - Langer,P, AU - Wild,A, AU - Hall,A, AU - Celik,I, AU - Rothmund,M, AU - Bartsch,D K, PY - 2003/12/4/pubmed PY - 2004/1/9/medline PY - 2003/12/4/entrez SP - 1599 EP - 603 JF - The British journal of surgery JO - Br J Surg VL - 90 IS - 12 N2 - BACKGROUND: The appropriate treatment for a sporadic endocrine tumour may be different from those that present as part of the multiple endocrine neoplasia type 1 (MEN1) syndrome. As primary hyperparathyroidism (pHPT) and pancreaticoduodenal endocrine tumours (PETs) are the most common organ manifestations of MEN1, the prevalence of germline mutations in the MEN1 gene was determined in young patients with apparently sporadic pHPT or PETs. METHODS: Eighteen of 705 patients with pHPT and 11 of 93 patients with PETs operated on between 1987 and 2001 had no family history of MEN1, only one organ manifestation and were aged 40 years or less at the time of diagnosis. Fifteen patients with pHPT and eight with PETs agreed to MEN1 gene mutation analysis, which was performed by single-strand conformational variant analysis and direct DNA sequencing. RESULTS: Two of 15 patients (13.3 (95 per cent confidence interval (c.i.) 1.6 to 40.4) per cent) with apparently sporadic pHPT had a MEN1 germline mutation. Both mutations were found in patients with pHPT due to multiglandular disease, whereas the remaining 13 patients had a solitary adenoma. None of the eight patients with PETs carried a MEN1 germline mutation. CONCLUSION: Sporadic pHPT due to multiglandular disease in patients younger than 40 years may represent the first organ manifestation of MEN1 despite a negative family history. SN - 0007-1323 UR - https://www.unboundmedicine.com/medline/citation/14648742/Prevalence_of_multiple_endocrine_neoplasia_type_1_in_young_patients_with_apparently_sporadic_primary_hyperparathyroidism_or_pancreaticoduodenal_endocrine_tumours_ L2 - https://doi.org/10.1002/bjs.4355 DB - PRIME DP - Unbound Medicine ER -