PMID- 23542451
OWN - NLM
STAT- MEDLINE
DCOM- 20140113
LR  - 20181202
IS  - 1473-5687 (Electronic)
IS  - 0954-691X (Linking)
VI  - 25
IP  - 7
DP  - 2013 Jul
TI  - Growth hormone-releasing hormone-producing pancreatic neuroendocrine tumor in a 
      multiple endocrine neoplasia type 1 family with an uncommon phenotype.
PG  - 858-62
LID - 10.1097/MEG.0b013e32835f433f [doi]
AB  - The objective of this study was to describe a multiple endocrine neoplasia type 1 
      (MEN1) family characterized by primary hyperparathyroidism, in association with 
      acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion 
      by a pancreatic neuroendocrine tumor in a young man and with a bronchial 
      carcinoid in his mother. We investigate the clinical, radiological imaging, 
      histopathologic findings, and therapy. An 18-year-old man successfully underwent 
      subtotal parathyroidectomy for primary hyperparathyroidism. A subsequent genetic 
      analysis showed a MEN1 gene mutation. Three years later, acromegaly because of 
      ectopic GHRH secretion was diagnosed (pituitary MRI negative and elevated GHRH 
      levels). A search for an ectopic tumor was unsuccessful and somatostatin analog 
      therapy was started. Successively, scintigraphy with somatostatin analogs 
      (68-Ga-DOTATOC-PET) showed three focal areas in the pancreatic tail. Distal 
      pancreatectomy showed multiple pancreatic neuroendocrine tumors and hormonal 
      status was normalized. Afterwards, the evaluation of the patient's mother, 
      carrying the same mutation, indicated a primary hyperparathyroidism and a 4 cm 
      lung mass. The patient underwent subtotal pneumonectomy and the histological 
      analysis was consistent with the diagnosis of a typical bronchial carcinoid. In 
      conclusion, an atypical phenotype may be recorded in MEN1 families, thus 
      emphasizing the importance of the new imaging and surgical techniques in the 
      diagnosis and treatment of such a rare disease.
FAU - Sala, Elisa
AU  - Sala E
AD  - Department of Clinical Sciences and Community Health, Endocrinology and 
      Diabetology Unit, University of Milan, Fondazione IRCCS Ca Granda Ospedale 
      Maggiore Policlinico, Milan, Italy. elisasala@yahoo.it
FAU - Ferrante, Emanuele
AU  - Ferrante E
FAU - Verrua, Elisa
AU  - Verrua E
FAU - Malchiodi, Elena
AU  - Malchiodi E
FAU - Mantovani, Giovanna
AU  - Mantovani G
FAU - Filopanti, Marcello
AU  - Filopanti M
FAU - Ferrero, Stefano
AU  - Ferrero S
FAU - Pietrabissa, Andrea
AU  - Pietrabissa A
FAU - Vanoli, Alessandro
AU  - Vanoli A
FAU - La Rosa, Stefano
AU  - La Rosa S
FAU - Zatelli, Maria C
AU  - Zatelli MC
FAU - Beck-Peccoz, Paolo
AU  - Beck-Peccoz P
FAU - Verga, Uberta
AU  - Verga U
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Eur J Gastroenterol Hepatol
JT  - European journal of gastroenterology & hepatology
JID - 9000874
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9034-39-3 (Growth Hormone-Releasing Hormone)
SB  - IM
MH  - Acromegaly/etiology
MH  - Adolescent
MH  - Bronchial Neoplasms/genetics/surgery
MH  - Carcinoid Tumor/genetics/surgery
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Growth Hormone-Releasing Hormone/*metabolism
MH  - Heredity
MH  - Humans
MH  - Hyperparathyroidism, Primary/etiology
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 
      1/complications/diagnosis/genetics/*metabolism/therapy
MH  - Mutation
MH  - Neuroendocrine Tumors/complications/diagnosis/genetics/*metabolism/therapy
MH  - Pancreatectomy
MH  - Pancreatic Neoplasms/complications/diagnosis/genetics/*metabolism/therapy
MH  - Parathyroidectomy
MH  - Pedigree
MH  - Phenotype
MH  - Pneumonectomy
MH  - Proto-Oncogene Proteins/genetics
MH  - Treatment Outcome
EDAT- 2013/04/02 06:00
MHDA- 2014/01/15 06:00
CRDT- 2013/04/02 06:00
PHST- 2013/04/02 06:00 [entrez]
PHST- 2013/04/02 06:00 [pubmed]
PHST- 2014/01/15 06:00 [medline]
AID - 10.1097/MEG.0b013e32835f433f [doi]
PST - ppublish
SO  - Eur J Gastroenterol Hepatol. 2013 Jul;25(7):858-62. doi: 
      10.1097/MEG.0b013e32835f433f.