Publications by authors named "M Ježová"

54 Publications

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

Improved osteosarcoma survival with addition of mifamurtide to conventional chemotherapy - Observational prospective single institution analysis.

J Bone Oncol 2021 Jun 7;28:100362. Epub 2021 Apr 7.

Department of Paediatric Oncology, University Hospital Brno and School of Medicine, Masaryk University, Cernopolni 9, Brno 613 00, Czech Republic.

Purpose: Conventional osteosarcoma is an orphan disease. Current treatment approaches include combining a three drug chemotherapy schedule and surgery. The 3- and 5-year event-free survival (EFS) in localized disease is roughly 65 and 60%, respectively. The registration study of mifamurtide reported survival benefit, but some methodological controversies have been insufficient for FDA market authorization in contrast to EMA.

Methods: prospective single centre survival analysis of a mifamurtide addition to conventional therapy in 23 patients over a 5.5 year enrolment period is reported and compared to a historical control of 26 patient with localized disease. Bias arising from observational methodology was addressed using Landmark analysis and time-dependent Cox models. Blood count dynamics were analysed during the treatment.

Results: The adverse event profile was as expected with no dose limiting toxicities. There were no local relapses observed, one patient died in the first complete remission due to doxorubicin cardiotoxicity, one patient had pulmonary metastatic relapse. The observed 3- and 5-year EFS was 87.4% (CI 72.4-100%) and 87.4% (CI 72.4-100%), progression free survival (PFS) was 92.9% (CI 80.3-100%) and 92.9% (CI 80.3-100%), overall survival was 94.1% (CI 83.6-100) and 80.7% (CI 58.3-100), respectively. Comparison to the historical control showed statistically significant better PFS for mifamurtide patients (Landmark analysis; p = 0.044). Risk of progression was 5-times lower for the mifamurtide group (Cox model; HR 0.21, p = 0.136). Only subtle differences in lymphocyte counts were observed across treatment.

Conclusion: the PFS benefit of mifamurtide is reported herein. The addition of mifamurtide could be considered as a best treatment option for localized osteosarcoma.
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http://dx.doi.org/10.1016/j.jbo.2021.100362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080518PMC
June 2021

SDHC Methylation Pattern in Patients With Carney Triad.

Appl Immunohistochem Mol Morphol 2021 Feb 24. Epub 2021 Feb 24.

Sikl's Institute of Pathology, Faculty of Medicine and Teaching Hospital in Plzen, Charles University Bioptical Laboratory Ltd, Plzen Department of Oncological Pathology, Masaryk Memorial Cancer Institute Department of Pathology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. To elucidate anatomic distribution of SDHC promoter methylation in Carney triad patients and thus to shed some light on the possible natural development of this epigenetic change, both neoplastic and available non-neoplastic tissues of 3 patients with Carney triad were tested for hypermethylation at the SDHC promoter site. SDHC promoter hypermethylation was proven in all tumors studied. Lack of SDHC epigenetic silencing in the non-neoplastic lymphoid and duodenal tissue (ie, tissues not involved in the development of Carney triad-associated tumors) together with the finding of SDHC promoter hypermethylation in the non-neoplastic gastric wall favors the hypothesis of postzygotic somatic mosaicism as the biological background of Carney triad; it also offers an explanation of the multifocality of gastrointestinal stromal tumors of the stomach occurring in this scenario as well. However, the precise mechanism responsible for the peculiar organ-specific distribution of Carney triad-associated tumors is still unknown.
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http://dx.doi.org/10.1097/PAI.0000000000000920DOI Listing
February 2021

Salivary Gland Choristoma of the Middle Ear in a Child: A Case Report.

Ear Nose Throat J 2021 Jun 16;100(3_suppl):356S-359S. Epub 2021 Feb 16.

Department of Paediatric Otorhinolaryngology, 48243University Hospital Brno and Faculty of Medicine of Masaryk University, Brno, Czech Republic.

Salivary gland choristoma is an extremely rare middle ear pathology. We present the case of a 10-year-old girl with unilateral conductive hearing loss. Tympanotomy showed a nonspecific middle ear mass, absence of stapes, anomaly of incus, and displaced facial nerve. It was not possible to remove the mass completely. Histology confirmed salivary gland choristoma. The hearing in this case can be improved with a bone-anchored hearing aid.
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http://dx.doi.org/10.1177/0145561321995024DOI Listing
June 2021

Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report.

Genes (Basel) 2021 Feb 3;12(2). Epub 2021 Feb 3.

Department of Pediatrics, University Hospital Brno, 613 00 Brno, Czech Republic.

Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.
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http://dx.doi.org/10.3390/genes12020220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913579PMC
February 2021