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Population differences in tear duct size implications of relaxed selection.

https://arctichealth.org/en/permalink/ahliterature1979
Source
Social Biology. 1969 Dec;16(4):257-69
Publication Type
Article
Date
Dec-1969
Author
Post, R.H.
Author Affiliation
University of Michigan
Source
Social Biology. 1969 Dec;16(4):257-69
Date
Dec-1969
Language
English
Geographic Location
U.S.
Publication Type
Article
Physical Holding
Alaska Medical Library
Keywords
Point Hope
Genetic variations
Tear duct size
Dacryocystitis
Africa, Western
African Continental Ancestry Group
Asian Continental Ancestry Group
Cephalometry
China
Comparative Study
Continental Population Groups
Egypt
Europe
European Continental Ancestry Group
Female
Hawaii
Humans
Indians, North American
Indians, South American
Inuits
Lacrimal Apparatus - anatomy & histology
Male
Melanesia
Oceanic Ancestry Group
Paleodontology
United States
Notes
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 196.
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Tumours of the lacrimal gland. Epidemiological, clinical and genetic characteristics.

https://arctichealth.org/en/permalink/ahliterature259867
Source
Acta Ophthalmol. 2013 Nov;91 Thesis 6:1-28
Publication Type
Article
Date
Nov-2013
Author
Sarah Linéa von Holstein
Source
Acta Ophthalmol. 2013 Nov;91 Thesis 6:1-28
Date
Nov-2013
Language
English
Publication Type
Article
Keywords
Adenoma, Pleomorphic - epidemiology - genetics - pathology
Adolescent
Adult
Aged
Aged, 80 and over
Biopsy
Carcinoma, Adenoid Cystic - epidemiology - genetics - pathology
Carcinoma, Mucoepidermoid - epidemiology - genetics - pathology
Child
Child, Preschool
Denmark - epidemiology
Female
Gene Expression Regulation, Neoplastic
Humans
Incidence
Lacrimal Apparatus - anatomy & histology - pathology - physiology
Lacrimal Apparatus Diseases - epidemiology - genetics - pathology
Male
Middle Aged
Orbital Neoplasms - epidemiology - genetics - pathology
Prognosis
Reverse Transcriptase Polymerase Chain Reaction
Tumor Markers, Biological
Young Adult
Abstract
Tumours of the lacrimal gland are rare, but the prognosis may be grave. To date, no population-based incidence and distribution data on lacrimal gland tumours exist. In addition, almost nothing is known about the genetic profile of epithelial tumours of the lacrimal gland. We collected specimens and clinical files on all biopsied lacrimal gland lesions in Denmark over a 34-year period and re-evaluated the diagnosis to provide updated population-based incidence rates and epidemiological characteristics. Clinical data regarding symptoms, clinical examinations, treatment and follow-up were collected for patients with adenoid cystic carcinoma (ACC), pleomorphic adenoma (PA), carcinoma ex pleomorphic adenoma (Ca-ex-PA) and mucoepidermoid carcinoma (MEC). Using RT-PCR, FISH, immunohistochemistry, Q-PCR and high-resolution array-based comparative genomic hybridization (arrayCGH) we explored the genetic characteristics including copy number alterations (CNA) in ACC, PA, Ca-ex-PA and MEC. The incidence of biopsied lacrimal gland lesions was 1.3/1,000,000/year, and ~50% were neoplastic lesions. Of these, 55% were malignant tumours with epithelial tumours as the most frequent. The overall incidence was increasing, and this was caused by an increase in biopsied non-neoplastic lesions. We found that 10/14 ACCs either expressed the MYB-NFIB fusion gene and/or had rearrangements of MYB. All ACCs expressed the MYB protein. ACC was characterized by recurrent copy number losses involving 6q, 12q and 17q and gains involving 19q, 8q and 11q. ArrayCGH revealed an apparently normal genomic profile in 11/19 PAs. The remaining 8 PAs had recurrent copy number losses involving 1p, 6q, 8q and 13q and gain involving 9p. PA expressed PLAG1 in all tumours whereas only 2/29 tumours expressed HMGA2. Ca-ex-PA was characterized by recurrent copy number gain involving 22q. PLAG1 was expressed in 3/5 Ca-ex-PA whereas none of these tumours expressed HMGA2. MEC expressed the CRTC1-MAML2, and this fusion was found to be tumour-specific for lacrimal gland MEC. In conclusion, lacrimal gland lesions that require pathological evaluation are rare in the Danish population, and the incidence rate of biopsied benign lesions is increasing. Epithelial tumours of the lacrimal gland are molecularly very similar to their salivary gland counterparts in the expression of the tumour-specific fusion genes and in their genomic imbalances as demonstrated by arrayCGH. MYB-NFIB is a useful biomarker for ACC and MYB, and its downstream target genes may be potential therapeutic targets for these tumours.
PubMed ID
24893972 View in PubMed
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