• Klíčová slova
• UVEA/neoplasms *,
• MeSH
• corpus ciliare * MeSH
• karcinom * MeSH
• nádory uvey * MeSH
• nádory * MeSH
• uvea * MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• choroidea * MeSH
• dospělí MeSH
• fotokoagulace * MeSH
• lidé středního věku MeSH
• lidé MeSH
• nemoci retiny chirurgie   MeSH
• nemoci uvey chirurgie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

• MeSH
• chromozomální aberace MeSH
• cytogenetika * MeSH
• karyotypizace MeSH
• lidé MeSH
• melanom genetika   MeSH
• mitóza MeSH
• mozaicismus MeSH
• myeloidní leukemie genetika   MeSH
• nádory genetika   MeSH
• nemoci uvey genetika   MeSH
• sexchromatin analýza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: BAP1 syndrome is an autosomal dominant hereditary cancer syndrome associated with increased risk of malignant mesothelioma; uveal and cutaneous melanoma; kidney cancer; lung adenocarcinoma; meningioma; basaliomas; and breast, ovarian, and prostate tumors. The BAP1 gene (BRCA1-associated protein 1) is a tumor suppressor gene involved in DNA repair via homologous recombination. BAP1 regulates the cell cycle, differentiation, DNA damage responses, and cell proliferation through deubiquitination. Somatic mutations in the BAP1 gene are common in many types of tumors. OBSERVATION: Two families harboring a germline mutation in the BAP1 gene were diagnosed at Masaryk Memorial Cancer Institute (MMCI). A 27-year-old index female from one family was followed-up for multiple nevi. Her mother and uncle had malignant mesothelioma, and her maternal grandmother had uveal melanoma. The index case tested positive for a BAP1 (NM_004656.2): c.217delG/p.Asp73Metfs*5 frame-shift mutation. The melanoma was removed at the age of 28 and 31. In the second family, an 11-year-old index female had two nevi removed from her head, and a spitzoid-type skin lesion was diagnosed at the age of 11. Her 34-year-old mother had multiple nevi, and a skin lesion of spitzoid-type was removed from the abdomen. Both patients harbored a BAP1 (NM_004656.2): c.123-1G>T acceptor splice site mutation (IARC [International Agency for Research on Cancer] class 4 [probably pathogenic]). Preventive measures for BAP1 syndrome should include known risks for cancer. Tumors occur early and repeatedly. At the MMCI, we recommend physical examination by an oncologist, eyes and skin examination, every 6 months; whole-body magnetic resonance imaging, including the central nervous system, every year (or low-dose computed tomography/chest and abdomen magnetic resonance imaging); annual abdominal ultrasound, breast ultrasound, or mammography; a gynecological ultrasound examination every 6 months; colonoscopy starting at the age of 45; and other suitable surveillances based on family history. CONCLUSION: BAP1 syndrome is a complex cancer syndrome with a high risk of rare malignant mesothelioma, malignant skin and uveal melanoma, spitzoid-type skin lesions, and other tumors. Detection of this syndrome is essential for the survival of high-risk individuals. Supported by the grant project MH CZ - RVO (MMCI, 00209805). The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 21. 5. 2019 Accepted: 6. 6. 2019.

• Klíčová slova
• genes, genetic testing, kidney neoplasms, melanoma, mesothelioma,
• MeSH
• dědičné nádorové syndromy genetika   MeSH
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• maligní mezoteliom MeSH
• melanom genetika   MeSH
• mezoteliom genetika   MeSH
• nádorové supresorové proteiny genetika   MeSH
• nádory kůže genetika   MeSH
• nádory ledvin genetika   MeSH
• nádory plic genetika   MeSH
• nádory prostaty genetika   MeSH
• nádory prsu genetika   MeSH
• nádory uvey genetika   MeSH
• nádory vaječníků genetika   MeSH
• thiolesterasa ubikvitinu genetika   MeSH
• uveální melanom MeSH
• zárodečné mutace MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• BAP1 protein, human MeSH Prohlížeč
• nádorové supresorové proteiny MeSH
• thiolesterasa ubikvitinu MeSH

BACKGROUND/AIMS: Liver is the most common site of metastases in uveal melanoma. Hepatic arterial infusion of cytotoxic agents may be an effective method of controlling the disease in these patients. METHODOLOGY: A retrospective analysis of 10 patients with hepatic metastases of uveal melanoma treated with hepatic arterial infusion (HAI) of the combination of cisplatin, vinblastine and dacarbazine was performed. RESULTS: Two patients had an objective response, 4 patients had stable disease and 4 patients had progressive disease. The median survival from the start of therapy was 16 (range 5 - 69) months. HAI of second line agents was of limited effectiveness. All patients with progressive disease died within one year while all patients with clinical benefit response (objective response or stable disease) survived more than one year. CONCLUSIONS: Present data demonstrate, in agreement with the literature, the effectiveness of HAI in the treatment of uveal melanoma metastatic to the liver. The HAI of combination of cisplatin, vinblastine and dacarbazine seems to have similar efficacy as other HAI regimens.

• MeSH
• arteria hepatica MeSH
• cisplatina aplikace a dávkování   MeSH
• dakarbazin aplikace a dávkování   MeSH
• intraarteriální infuze MeSH
• lidé středního věku MeSH
• lidé MeSH
• melanom farmakoterapie   sekundární   MeSH
• nádory jater farmakoterapie   sekundární   MeSH
• nádory uvey patologie   MeSH
• progrese nemoci MeSH
• protokoly protinádorové kombinované chemoterapie terapeutické užití   MeSH
• retrospektivní studie MeSH
• vinblastin aplikace a dávkování   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• cisplatina MeSH
• dakarbazin MeSH
• vinblastin MeSH

AIMS: To describe the causes of severe visual impairment and blindness in children in schools for the visually handicapped in the Czech Republic in 1998. METHODS: Pupils attending all 10 primary schools for the visually handicapped were examined. A modified WHO/PBL eye examination record for children with blindness and low vision was used. RESULTS: 229 children (146 males and 83 females) aged 6-15 years were included in the study: 47 children had severe visual impairment (20.5%) (visual acuity in their better eye less than 6/60), and 159 were blind (69.5%) (visual acuity in their better eye less than 3/60). Anatomically, the most affected parts of the eye were the retina (124, 54.2%), optic nerve (35, 15.3%), whole globe (25, 10.9%), lens (20, 8.7%), and uvea (12, 5.2%). Aetiologically (timing of insult leading to visual loss), the major cause of visual impairment was retinopathy of prematurity (ROP) (96, 41.9 %), followed by abnormalities of unknown timing of insult (97, 42.4%), and hereditary disease (21, 9.2%). In 90 children (40%), additional disabilities were present: mental disability (36, 16%), physical handicap (16, 7%), and/or a combination of both (19, 8%). It was estimated that 127 children (56%) suffer from visual impairment caused by potentially preventable and/or treatable conditions (for example, ROP, cataract, glaucoma). CONCLUSIONS: Establishing a study group for comprehensive evaluation of causes of visual handicap in children in the Czech Republic, as well as for detailed analysis of present practice of screening for ROP was recommended.

• MeSH
• degenerace retiny komplikace   MeSH
• dítě MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• mladiství MeSH
• nemoci oční čočky komplikace   MeSH
• nemoci rohovky komplikace   MeSH
• nemoci uvey komplikace   MeSH
• nemoci zrakového nervu komplikace   MeSH
• novorozenec MeSH
• retinopatie nedonošených komplikace   MeSH
• sexuální faktory MeSH
• slepota etiologie   MeSH
• snížené vidění etiologie   MeSH
• speciální vzdělávání * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

We present an infant with cDGS overlapping with CHARGE syndrome, who suffered from T-cell deficiency treated with screened healthy DLI from an unrelated donor (8/10 match). The first dose of DLI (1.1 x 10(6) CD3+/kg) was administered at the age of six months, the second one (0.9 x 10(6) CD3+/kg) 36 days later. No conditioning was employed, GvHD prophylaxis consisting of CsA was used only during the second infusion. Since day+10 after the first DLI, split chimerism showing T-cell engraftment has been documented. Proliferative response to PHA was detected on day+145. The treatment was complicated by severe acute GvHD (grade II-III) after the first DLI and prolonged chronic liver cholestatic GvHD developing after the second DLI. Vigorous EBV proliferation four wk after the second DLI was accompanied by peripheral expansion of CD8+ donor cells. The patient, 26-months old, is clinically well and has slowly started to gain his developmental milestones. We believe that infusions of small doses of DLI from an unrelated donor represent a potentially helpful therapeutic option in patients with cDGS/CHARGE phenotype.

• MeSH
• anální atrézie terapie   MeSH
• DiGeorgeův syndrom krev   terapie   MeSH
• kolobom terapie   MeSH
• lidé MeSH
• mentální retardace terapie   MeSH
• mužské pohlavní orgány abnormality   MeSH
• následné studie MeSH
• nemoc štěpu proti hostiteli etiologie   prevence a kontrola   MeSH
• nemoci ucha vrozené   terapie   MeSH
• novorozenec MeSH
• poruchy růstu terapie   MeSH
• T-lymfocyty MeSH
• transfuze lymfocytů škodlivé účinky   metody   MeSH
• ucho abnormality   MeSH
• vrozené srdeční vady terapie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH