Publications by authors named "J Glezgová"

3 Publications

  • Page 1 of 1

UVEAL MELANOMA IN A 15-YEAR-OLD GIRL. CASE REPORT.

Cesk Slov Oftalmol 2021 ;77(2):94-100

Uveal melanoma is the most common intraocular tumour in adults, it is a form of cancer that affects mostly older adults, as the average age at detection of this tumour is 60 years, but it can occur in any age group with no significant gender difference. However, uveal melanoma is very rare in children compared to the adult population, accounting for 1 % of all cases. In pediatric patients, malignant uveal melanoma is more frequently manifested during puberty, leading to speculation of an association between uveal melanoma and growth hormone levels. Prognostic factors for uveal melanoma include tumour histology, chromosomal abnormalities, tumour size, extrascleral spread and tumour location. Risk factors for uveal melanoma include melanocytosis, neurofibromatosis type 1 and dysplastic naevus syndrome. Some studies point to a significantly lower risk of developing metastases in younger patients, but the prognosis of uveal melanoma in children is not yet fully known. Clinical signs and treatment options for malignant uveal melanoma in children are still under discussion. Differential diagnosis of uveal lesions in children can sometimes be very difficult, as evidenced by following case report in which authors describe a case of choroidal melanoma in a 15-year-old girl.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.31348/2021/13DOI Listing
May 2021

The micronucleus cytome assay - A fast tool for DNA damage screening in human conjunctival epithelial cells.

Ocul Surf 2021 Apr 4;20:195-198. Epub 2021 Mar 4.

Laboratory of the Biology and Pathology of the Eye, Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.

Purpose: To assess whether the micronucleus cytome assay (MCyt) reliably detects DNA damage occurring in control and pathological superficial epithelial cells from human conjunctiva.

Methods: Impression cytology samples from the bulbar conjunctiva of 33 healthy controls, eight patients with conjunctival intraepithelial neoplasia (CIN) and eight with mucous membrane pemphigoid (MMP) were examined using the MCyt modified for the ocular surface.

Results: The mean number of micronuclei (MNi) in control samples was 0.94 MNi/1000 epithelial cells, with no significant difference between conjunctival quadrants and independent of sex and age. The MCyt assay applied to CIN-affected eyes showed a significantly higher frequency of MNi (18.63/1000 cells), apoptotic cells, nuclear enlargement, multinucleated cells, and keratolysis compared with the corresponding unaffected paired eyes and with the control value. Although the mean MNi frequency in MMP eyes was also higher (1.73 MNi/1000 cells), it did not prove to be statistically different from the control samples. On the other hand, the MMP-affected eyes revealed significantly elevated percentages of cells with snake-like chromatin, multinucleated cells, apoptotic cells, and nuclear buds compared with controls.

Conclusions: Micronucleus cytome assay was adapted as a rapid screening test for genomic instability on the ocular surface. We have determined reference levels for MNi and other nuclear alterations on healthy conjunctiva and demonstrated that particularly frequencies of MNi are significantly elevated in conjunctiva affected by CIN. We demonstrate that MNi are more specific than other nuclear abnormalities and thus can be used for screening of ocular surface neoplasia.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jtos.2021.02.011DOI Listing
April 2021

Germline mutation in the TP53 gene in uveal melanoma.

Sci Rep 2018 05 16;8(1):7618. Epub 2018 May 16.

Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic BAP1 mutation was detected together with germline missense variants of uncertain significance in ATM. All cases carried recurrent activating GNAQ or GNA11 mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on TP53 coding region. No other germline TP53 mutation was detected in these samples. Germline TP53 mutation, usually associated with Li-Fraumeni syndrome, is a rare event in UM. To the best of our knowledge, only one family with germline TP53 mutation has previously been described. In our study, we detected TP53 mutation in two patients without known family relationship. The identification of germline aberrations in TP53 or BAP1 is important to identify patients with Li-Fraumeni syndrome or BAP1 cancer syndrome, which is also crucial for proper genetic counseling.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-26040-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5955881PMC
May 2018