PMID- 21763627
OWN - NLM
STAT- MEDLINE
DCOM- 20110916
LR  - 20110718
IS  - 2210-7762 (Print)
VI  - 204
IP  - 6
DP  - 2011 Jun
TI  - Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a 
      MEN1 patient with a whole gene deletion.
PG  - 309-15
LID - 10.1016/j.cancergen.2011.03.006 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary 
      disorder associated with mutations of the MEN1 gene, which is characterized by 
      combined tumors of the parathyroid glands, pancreatic islet cells, and the 
      anterior pituitary. A significant number of patients with the clinical features 
      of MEN1, however, do not show MEN1 mutations upon direct sequencing. We describe 
      a young woman who fulfilled the clinical and biochemical criteria for MEN1 
      syndrome, but DNA sequencing did not indicate any MEN1 mutations. She developed a 
      prolactin-secreting pituitary macroadenoma, primary hyperparathyroidism with 
      parathyroid hyperplasia, pancreatic lesions, and two subcutaneous lipomas. Array 
      comparative genomic hybridization (aCGH) analysis of peripheral blood DNA 
      revealed a heterozygous germline deletion at 11q13.1 that spanned at least 22.23 
      kilobases and contained the entire MEN1 gene. Integrated aCGH and cytogenetic 
      analyses of the adenoma and lipoma tissues revealed somatic inactivation of the 
      wild-type MEN1 allele by different routes: the second hit of MEN1 recessive 
      oncogenesis leading to adenoma implied a loss of heterozygosity, whereas a 
      balanced translocation deleting the wild-type MEN1 allele primed the lipoma 
      development. These findings show that aCGH is a valuable means of optimizing 
      genetic testing in MEN1 patients which complements other technologic approaches 
      to elucidating the pathologic mechanisms of MEN1 tumors.
CI  - Copyright (c) 2011 Elsevier Inc. All rights reserved.
FAU - Rusconi, Daniela
AU  - Rusconi D
AD  - Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto 
      Auxologico Italiano, Milan, Italy.
FAU - Valtorta, Emanuele
AU  - Valtorta E
FAU - Rodeschini, Ornella
AU  - Rodeschini O
FAU - Giardino, Daniela
AU  - Giardino D
FAU - Lorenzo, Iughetti
AU  - Lorenzo I
FAU - Predieri, Barbara
AU  - Predieri B
FAU - Losa, Marco
AU  - Losa M
FAU - Larizza, Lidia
AU  - Larizza L
FAU - Finelli, Palma
AU  - Finelli P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lipoma/*genetics
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasms, Multiple Primary/*genetics
MH  - Pituitary Neoplasms/*genetics
MH  - Skin Neoplasms/*genetics
MH  - Young Adult
EDAT- 2011/07/19 06:00
MHDA- 2011/09/17 06:00
CRDT- 2011/07/19 06:00
PHST- 2010/09/20 00:00 [received]
PHST- 2011/03/25 00:00 [revised]
PHST- 2011/03/31 00:00 [accepted]
PHST- 2011/07/19 06:00 [entrez]
PHST- 2011/07/19 06:00 [pubmed]
PHST- 2011/09/17 06:00 [medline]
AID - S2210-7762(11)00080-9 [pii]
AID - 10.1016/j.cancergen.2011.03.006 [doi]
PST - ppublish
SO  - Cancer Genet. 2011 Jun;204(6):309-15. doi: 10.1016/j.cancergen.2011.03.006.