PMID- 11980616
OWN - NLM
STAT- MEDLINE
DCOM- 20020621
LR  - 20190906
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 146
IP  - 5
DP  - 2002 May
TI  - Genetic analysis of lithium-associated parathyroid tumors.
PG  - 619-27
AB  - OBJECTIVE: The aim of this study was to determine the primary genetic events that 
      may underlie the formation of parathyroid tumors in patients with 
      lithium-associated hyperparathyroidism (HPT). METHODS: Comparative genomic 
      hybridization (CGH), loss of heterozygosity (LOH) and multiple endocrine 
      neoplasia type 1 gene (MEN1) mutation analysis were used to analyze twelve 
      parathyroid tumors from nine patients with lithium-associated HPT. For 
      comparison, CGH was also carried out in a non-lithium-associated group of 
      thirteen sporadic parathyroid tumors. RESULTS: A higher prevalence of 
      multiglandular disease in the lithium-associated HPT patients compared with the 
      idiopathic sporadic patients was observed (Fisher's exact test, P=0.02). CGH 
      alterations were detected in four lithium-associated parathyroid tumors, 
      involving loss at 1p, 11, 15q, 22q and gain of the X chromosome. In addition, one 
      of these four cases exhibited LOH at 11q13 and was found to contain a novel 
      somatic MEN1 mutation (c.1193insTAC). Although fewer lithium-associated 
      parathyroid tumors were shown to contain genetic alterations compared with the 
      sporadic parathyroid tumors, the changes detected were those frequently 
      associated with both familial and sporadic parathyroid tumorigenesis. CONCLUSION: 
      This is, to our knowledge, the first genetic analysis of parathyroid tumors in 
      lithium-associated HPT patients. Our data indicated that the majority of 
      lithium-associated parathyroid tumors do not contain gross chromosomal 
      alterations and suggest that in most cases the tumorigenic pathway is independent 
      of MEN1 and genes at 1p34.3-pter and 1q21-q32. It is possible that other discrete 
      genetic alterations or epigenetic changes, not screened for in this study, could 
      also be responsible for parathyroid tumorigenesis in lithium-associated HPT.
FAU - Dwight, T
AU  - Dwight T
AD  - Cancer Genetics Unit, Kolling Institute of Medical Research, Royal North Shore 
      Hospital, Sydney, Australia.
FAU - Kytola, S
AU  - Kytola S
FAU - Teh, B T
AU  - Teh BT
FAU - Theodosopoulos, G
AU  - Theodosopoulos G
FAU - Richardson, A L
AU  - Richardson AL
FAU - Philips, J
AU  - Philips J
FAU - Twigg, S
AU  - Twigg S
FAU - Delbridge, L
AU  - Delbridge L
FAU - Marsh, D J
AU  - Marsh DJ
FAU - Nelson, A E
AU  - Nelson AE
FAU - Larsson, C
AU  - Larsson C
FAU - Robinson, B G
AU  - Robinson BG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9FN79X2M3F (Lithium)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Chromosomes, Human, Pair 11/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism/chemically induced
MH  - Lithium/*adverse effects
MH  - Loss of Heterozygosity
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia/epidemiology
MH  - Neoplasm Proteins/genetics
MH  - Nucleic Acid Hybridization
MH  - Parathyroid Neoplasms/*chemically induced/epidemiology/*genetics
MH  - Prevalence
MH  - *Proto-Oncogene Proteins
EDAT- 2002/05/01 10:00
MHDA- 2002/06/22 10:01
CRDT- 2002/05/01 10:00
PHST- 2002/05/01 10:00 [pubmed]
PHST- 2002/06/22 10:01 [medline]
PHST- 2002/05/01 10:00 [entrez]
AID - 146619 [pii]
AID - 10.1530/eje.0.1460619 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2002 May;146(5):619-27. doi: 10.1530/eje.0.1460619.