[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome].
BACKGROUND
The clinical features of multiple endocrine neoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome is due to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoral growth and metastatic potential.


METHODS
We reviewed the medical records of the members of a family (6 men and 2 women) with MEN-1 syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian (Spain). Familial study of all patients and family members (19 cases from 2 generations) was performed in 2 phases. The first phase consisted of mutation screening and the second of multiplex ligation-dependent probe amplification (MLPA) to detect deletions.


RESULTS
Screening of mutations identified no pathogenic variants in the proband of this family. MLPA revealed a deletion affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this molecular alteration, 8 had at least one phenotypic feature of this syndrome (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 years of follow-up.


CONCLUSIONS
We discuss the clinical forms of MEN-1 syndrome in this family and the molecular alteration found. Study of MEN1 gene deletions should be incorporated into routine molecular screening.
Cosme
Angel
A
Servicio de Aparato Digestivo, Hospital Donostia, CIBEREHD, Universidad del País Vasco, San Sebastián, Guipúzcoa, Spain. acosme@chdo.osakidetza.net
Alvarez
Mariano
M
Beguiristain
Adolfo
A
Cobo
Ana María
AM
Robledo
Mercedes
M
Aranzadi
María Jesús
MJ
Ojeda
Evelia
E
Bujanda
Luis
L
Goikoetxea
Unai
U
D000328:Adult; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins