Search: onr:"swepub:oai:prod.swepub.kib.ki.se:1955430" >
Genetic analysis of...
Genetic analysis of lithium-associated parathyroid tumors
-
Dwight, T (author)
-
Kytola, S (author)
-
Teh, BT (author)
-
show more...
-
Theodosopoulos, G (author)
-
Richardson, AL (author)
-
Philips, J (author)
-
Twigg, S (author)
-
Delbridge, L (author)
-
Marsh, DJ (author)
-
Nelson, AE (author)
-
- Larsson, C (author)
- Karolinska Institutet
-
Robinson, BG (author)
-
show less...
-
(creator_code:org_t)
- Oxford University Press (OUP), 2002
- 2002
- English.
-
In: European journal of endocrinology. - : Oxford University Press (OUP). - 0804-4643 .- 1479-683X. ; 146:5, s. 619-627
- Related links:
-
https://eje.bioscien...
-
show more...
-
http://kipublication...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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.
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Dwight, T
-
Kytola, S
-
Teh, BT
-
Theodosopoulos, ...
-
Richardson, AL
-
Philips, J
-
show more...
-
Twigg, S
-
Delbridge, L
-
Marsh, DJ
-
Nelson, AE
-
Larsson, C
-
Robinson, BG
-
show less...
- Articles in the publication
-
European journal ...
- By the university
-
Karolinska Institutet