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Allelic loss in clinically and screening-detected primary hyperparathyroidism

Correa, Pamela LU ; Juhlin, Christofer ; Rastad, Jonas ; Akerström, Göran ; Westin, Gunnar and Carling, Tobias (2002) In Clinical Endocrinology 56(1). p.7-113
Abstract

OBJECTIVE: Parathyroid adenomas frequently harbour deletions of genomic DNA at chromosome regions 1p, 6q and 11q. In this study we related clinical characteristics in 56 patients with primary hyperparathyroidism (pHPT) to loss of heterozygosity (LOH) in these chromosome regions.

DESIGN: LOH analysis was performed on 56 sporadic parathyroid tumours using a total of 18 microsatellite markers for chromosome regions 1p, 6q and 11q. LOH was identified, for either radioactive or fluorescent labelled markers, as total absence or reduction of > or = 50% of the signal intensity of an allele in the tumour DNA vs. constitutional DNA.

PATIENTS: Twenty-one of the patients were recruited by a population-based screening for pHPT and the... (More)

OBJECTIVE: Parathyroid adenomas frequently harbour deletions of genomic DNA at chromosome regions 1p, 6q and 11q. In this study we related clinical characteristics in 56 patients with primary hyperparathyroidism (pHPT) to loss of heterozygosity (LOH) in these chromosome regions.

DESIGN: LOH analysis was performed on 56 sporadic parathyroid tumours using a total of 18 microsatellite markers for chromosome regions 1p, 6q and 11q. LOH was identified, for either radioactive or fluorescent labelled markers, as total absence or reduction of > or = 50% of the signal intensity of an allele in the tumour DNA vs. constitutional DNA.

PATIENTS: Twenty-one of the patients were recruited by a population-based screening for pHPT and the remaining pHPT patients were gathered from routine clinical practice.

RESULTS: In total, 27%, 23% and 23% of the tumours showed LOH at 1p, 6q and 11q, respectively. LOH at both 1p and 11q was more common in the screening-detected pHPT patients compared to those recruited from clinical practice (38% vs. 20%; P = 0.02 and 43% vs. 11%; P = 0.001, respectively), while allelic loss at 6q was more prevalent in the latter group (11% vs. 31%; P = 0.001). No apparent relationships between LOH at 1p, 6q, and 11q and clinical characteristics, such as glandular weight, serum levels of PTH or calcium, were demonstrated. Moreover, additional LOH analysis of chromosome 1p suggested a putative parathyroid tumour suppressor gene(s) in the region between markers DS214 and D1S503, spanning approximately 6 cM.

CONCLUSION: A high frequency of LOH at 1p and 11q in tumours of screening-detected pHPT patients is intriguing, and may suggest that inactivation of known (the MEN1 gene) and putative tumour suppressor genes at these chromosomal regions is associated with a more benign disease.

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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Aged, Chi-Square Distribution, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 6, Female, Humans, Hyperparathyroidism/diagnosis, Loss of Heterozygosity, Male, Mass Screening, Middle Aged
in
Clinical Endocrinology
volume
56
issue
1
pages
7 - 113
publisher
Wiley-Blackwell
external identifiers
  • scopus:0036153518
  • pmid:11849254
ISSN
0300-0664
DOI
10.1046/j.0300-0664.2001.01436.x
language
English
LU publication?
no
id
db7910d3-ea43-4acc-8b4f-e693baf26715
date added to LUP
2021-11-29 11:17:43
date last changed
2024-02-20 18:22:43
@article{db7910d3-ea43-4acc-8b4f-e693baf26715,
  abstract     = {{<p>OBJECTIVE: Parathyroid adenomas frequently harbour deletions of genomic DNA at chromosome regions 1p, 6q and 11q. In this study we related clinical characteristics in 56 patients with primary hyperparathyroidism (pHPT) to loss of heterozygosity (LOH) in these chromosome regions.</p><p>DESIGN: LOH analysis was performed on 56 sporadic parathyroid tumours using a total of 18 microsatellite markers for chromosome regions 1p, 6q and 11q. LOH was identified, for either radioactive or fluorescent labelled markers, as total absence or reduction of &gt; or = 50% of the signal intensity of an allele in the tumour DNA vs. constitutional DNA.</p><p>PATIENTS: Twenty-one of the patients were recruited by a population-based screening for pHPT and the remaining pHPT patients were gathered from routine clinical practice.</p><p>RESULTS: In total, 27%, 23% and 23% of the tumours showed LOH at 1p, 6q and 11q, respectively. LOH at both 1p and 11q was more common in the screening-detected pHPT patients compared to those recruited from clinical practice (38% vs. 20%; P = 0.02 and 43% vs. 11%; P = 0.001, respectively), while allelic loss at 6q was more prevalent in the latter group (11% vs. 31%; P = 0.001). No apparent relationships between LOH at 1p, 6q, and 11q and clinical characteristics, such as glandular weight, serum levels of PTH or calcium, were demonstrated. Moreover, additional LOH analysis of chromosome 1p suggested a putative parathyroid tumour suppressor gene(s) in the region between markers DS214 and D1S503, spanning approximately 6 cM.</p><p>CONCLUSION: A high frequency of LOH at 1p and 11q in tumours of screening-detected pHPT patients is intriguing, and may suggest that inactivation of known (the MEN1 gene) and putative tumour suppressor genes at these chromosomal regions is associated with a more benign disease.</p>}},
  author       = {{Correa, Pamela and Juhlin, Christofer and Rastad, Jonas and Akerström, Göran and Westin, Gunnar and Carling, Tobias}},
  issn         = {{0300-0664}},
  keywords     = {{Aged; Chi-Square Distribution; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 6; Female; Humans; Hyperparathyroidism/diagnosis; Loss of Heterozygosity; Male; Mass Screening; Middle Aged}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{7--113}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Clinical Endocrinology}},
  title        = {{Allelic loss in clinically and screening-detected primary hyperparathyroidism}},
  url          = {{http://dx.doi.org/10.1046/j.0300-0664.2001.01436.x}},
  doi          = {{10.1046/j.0300-0664.2001.01436.x}},
  volume       = {{56}},
  year         = {{2002}},
}