PMID- 11549605
OWN - NLM
STAT- MEDLINE
DCOM- 20011011
LR  - 20220216
IS  - 0002-9440 (Print)
IS  - 1525-2191 (Electronic)
IS  - 0002-9440 (Linking)
VI  - 159
IP  - 3
DP  - 2001 Sep
TI  - Multiple leiomyomas of the esophagus, lung, and uterus in multiple endocrine 
      neoplasia type 1.
PG  - 1121-7
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary 
      disorder characterized by multiple parathyroid, pancreatic, duodenal, and 
      pituitary neuroendocrine tumors. Nonendocrine mesenchymal tumors, such as 
      lipomas, collagenomas, and angiofibromas have also been reported. MEN1-associated 
      neuroendocrine and some mesenchymal tumors have documented MEN1 gene alterations 
      on chromosome 11q13. To test whether the MEN1 gene is involved in the 
      pathogenesis of multiple smooth muscle tumors, we examined the 11q13 loss of 
      heterozygosity (LOH) and clonality patterns in 15 leiomyomata of the esophagus, 
      lung, and uterus from five patients with MEN1. Forty sporadic uterine leiomyomata 
      were also studied for 11q13 LOH. LOH analysis was performed using four 
      polymorphic DNA markers at the MEN1 gene locus; D11S480, PYGM, D11S449, and 
      INT-2. 11q13 LOH was detected in 10 of 12 (83%) MEN1-associated esophageal and 
      uterine smooth muscle tumors. In contrast, LOH at the MEN1 gene locus was 
      demonstrated only in 2 of 40 (5%) sporadic uterine tumors. LOH at 11q13 was not 
      documented in three lung smooth muscle tumors from a single patient with MEN1. 
      Ten tumors from two female patients were additionally assessed for clonality by 
      X-chromosome inactivation analysis. The results demonstrated different clonality 
      patterns in multiple tumors in the same organ in each individual patient. The 
      data indicate that leiomyomata of the esophagus and uterus in MEN1 patients arise 
      as independent clones, develop through MEN1 gene alterations, and are an integral 
      part of MEN1. However, the MEN1 gene is not a significant contributor to the 
      tumorigenesis of sporadic uterine leiomyomata.
FAU - McKeeby, J L
AU  - McKeeby JL
AD  - Pediatric and Reproductive Endocrinology Branch, National Institutes of Health, 
      Bethesda, Maryland 20892-1414, USA.
FAU - Li, X
AU  - Li X
FAU - Zhuang, Z
AU  - Zhuang Z
FAU - Vortmeyer, A O
AU  - Vortmeyer AO
FAU - Huang, S
AU  - Huang S
FAU - Pirner, M
AU  - Pirner M
FAU - Skarulis, M C
AU  - Skarulis MC
FAU - James-Newton, L
AU  - James-Newton L
FAU - Marx, S J
AU  - Marx SJ
FAU - Lubensky, I A
AU  - Lubensky IA
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Pathol
JT  - The American journal of pathology
JID - 0370502
SB  - IM
MH  - Adult
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Esophageal Neoplasms/*genetics
MH  - Female
MH  - Gene Silencing
MH  - Humans
MH  - Leiomyomatosis/*genetics
MH  - Loss of Heterozygosity
MH  - Lung Neoplasms/*genetics
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Uterine Neoplasms/*genetics
MH  - X Chromosome/genetics
PMC - PMC1850469
EDAT- 2001/09/11 10:00
MHDA- 2001/10/12 10:01
PMCR- 2002/09/01
CRDT- 2001/09/11 10:00
PHST- 2001/09/11 10:00 [pubmed]
PHST- 2001/10/12 10:01 [medline]
PHST- 2001/09/11 10:00 [entrez]
PHST- 2002/09/01 00:00 [pmc-release]
AID - S0002-9440(10)61788-9 [pii]
AID - 2799 [pii]
AID - 10.1016/S0002-9440(10)61788-9 [doi]
PST - ppublish
SO  - Am J Pathol. 2001 Sep;159(3):1121-7. doi: 10.1016/S0002-9440(10)61788-9.