BRCA1-associated protein (BAP1)-inactivated melanocytic tumor (BIMT) is a group of epithelioid melanocytic neoplasms characterized by the loss of function of BAP1, a tumor suppressor gene located on chromosome 3p21. They occur sporadically or in the setting of an autosomal-dominant cancer susceptibility syndrome that predisposes to the development of different internal malignancies. Most of these cutaneous lesions are associated with a BRAF-mutated melanocytic nevus and therefore are included in the group of combined nevi in the last WHO classification of skin tumors. Apart from a BRAF mutation, an NRAS mutation has been reported in rare cases, whereas in some lesions no driver mutation has been detected. Here, we report 2 cases of BIMTs with a BAP1 mutation and a RAF1 fusion. Both lesions proved to be BRAF and NRAS wild type and were associated with a conventional melanocytic nevus with dysplastic junctional features. We suggest that RAF1 fusions can represent an underlying driver genetic event in these cases. Our study extends the morphological and molecular spectrum in BIMTs.
- MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- fúze genů * MeSH
- genetická predispozice k nemoci MeSH
- GTP-fosfohydrolasy genetika MeSH
- imunohistochemie MeSH
- lidé MeSH
- membránové proteiny genetika MeSH
- mutační analýza DNA MeSH
- nádorové biomarkery analýza genetika MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory kůže chemie genetika patologie chirurgie MeSH
- pigmentový névus chemie genetika patologie chirurgie MeSH
- protoonkogenní proteiny B-raf genetika MeSH
- protoonkogenní proteiny c-raf genetika MeSH
- thiolesterasa ubikvitinu genetika MeSH
- umlčování genů * MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Secretory carcinoma of the skin is a rare adnexal carcinoma, which is morphologically and immunohistochemically identical to secretory carcinoma of the breast and is associated with the presence of t (12;15) translocation, resulting in the ETV6-NTRK3 gene fusion. Nineteen cases of primary cutaneous secretory carcinoma have been previously published in the literature. In this study, we describe 6 new cases of secretory carcinoma of the skin. The study group consisted of 5 female patients and 1 male patient, ranging in age from 57 to 98 years (mean: 74.2, median: 74). Locations included the axilla (2), neck, eyelid, thigh, and nipple base, each one. Microscopically, all but 1 tumor were well circumscribed and nonencapsulated and exhibited characteristic abundant secretions within the microcystic and tubular spaces comprised by bland oval, round to cuboidal neoplastic cells. In addition, solid areas and focal pseudopapillae were seen, and, in 1 case, a focal mucinous component with small lakes of mucin containing small tumor nests or tubules of the neoplastic cells was present. The remaining neoplasm was mostly solid and papillary, with only few characteristic lumina containing secretions. Immunohistochemically, all cases expressed S-100 protein, mammaglobin, STAT5, GATA3, and NTRK. ETV6-NTRK3 gene fusion was detected in 5 cases, whereas, in the remaining tumor, a novel NFIX-PKN1 gene fusion was found.
- MeSH
- databáze faktografické MeSH
- fenotyp MeSH
- fúze genů * MeSH
- genetická predispozice k nemoci MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- karcinom chemie genetika patologie chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery analýza genetika MeSH
- nádory kůže chemie genetika patologie chirurgie MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- prospektivní studie MeSH
- proteinkinasa C genetika MeSH
- retrospektivní studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- transkripční faktory NFI genetika MeSH
- translokace genetická * MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Superficial acral fibromyxoma (SAF) is an uncommon benign dermal mesenchymal lesion of adults with predilection for acral sites, in particular the nail region. To date, less than 300 cases have been reported. SAFs consistently express CD34, but other diagnostic markers or specific genetic alterations have not been established yet. We describe 11 SAFs occurring in 7 men and 4 women aged 37 to 86years (median, 48 years). Mean size was 6mm (range, 4-20mm). Affected sites were fingers (n=5), toes (n=3), heel (n=1), calf (n=1), and unspecified digit (n=1). None of 10 patients with available follow-up (2-60months; median, 24months) developed recurrence. Histology showed relatively hypocellular vaguely lobulated nodules composed of bland-looking spindled or stellate fibroblast-like cells arranged into storiform or loose fascicles within a variably myxoid, fibromyxoid, or collagenous vascularized stroma. Immunohistochemistry showed expression of CD34 (9/10) and focal weak reactivity for epithelial membrane antigen (2/11). None of the lesions expressed protein S100 (0/11), MUC4 (0/11), or STAT6 (0/11). Loss of Rb1 immunoexpression was observed in 9 (90%) of 10 cases. All 7 cases with successful RB1 fluorescence in situ hybridization testing showed RB1 gene deletions, which was variably associated with co-loss of the corresponding 13q12 signal (monosomy at the 13q region). To our knowledge, this is the first study investigating the expression status of the tumor suppressor Rb1 in SAF by immunohistochemistry and fluorescence in situ hybridization. Our results showed frequent Rb1 deficiency as a possible driver molecular event in SAF (seen in 90% of cases) indicating relationship of SAF to the RB1-deleted tumor family.
- MeSH
- biopsie MeSH
- delece genu * MeSH
- dospělí MeSH
- fenotyp MeSH
- fibrom chemie diagnóza genetika patologie chirurgie MeSH
- genetická predispozice k nemoci MeSH
- hybridizace in situ fluorescenční * MeSH
- imunohistochemie * MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery analýza genetika MeSH
- nádory kůže chemie diagnóza genetika patologie chirurgie MeSH
- prediktivní hodnota testů MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- tumor burden MeSH
- ubikvitinligasy analýza genetika MeSH
- vazebné proteiny retinoblastomu analýza genetika MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- dědičné nádorové syndromy patologie MeSH
- dítě MeSH
- dospělí MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádorové biomarkery analýza MeSH
- nádorové supresorové proteiny analýza MeSH
- nádory kůže chemie patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- thiolesterasa ubikvitinu analýza MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- dopisy MeSH
Thyroid transcription factor-1 (TTF-1) is a marker of tumors of pulmonary and thyroid origin, and its expression practically excludes diagnosis of Merkel cell carcinoma (MCC). However, TTF-1 expression in combined MCC was recently reported. PAX5 is a marker of B-cell origin that is also expressed in most classical MCC cases; however, its expression was not described in combined MCC. The authors decided to evaluate the expression of both these markers in a group of 5 combined MCCs (2 with invasive squamous cell carcinoma, 2 with squamous cell carcinoma in situ, and 1 with basal cell carcinoma). Expression of TTF-1 was found in 4 of 5 cases; in 3 cases, the marker was shown in the MCC component (weakly in 2 cases and strongly in 1 case), whereas the non-MCC component presented TTF-1 expression in 2 cases. A weak-to-moderate immunoreactivity for PAX5 was identified in all cases of the MCC component but in none of the non-MCC component. The results show that the expression of TTF-1 is a frequent finding in combined MCC and can be present in the neuroendocrine component, which differs from the conventional MCC. In contrast, PAX5 expression pattern is similar to that of the classical MCC.
- MeSH
- aktivátorový protein specifický pro B-buňky analýza MeSH
- bazocelulární karcinom chemie patologie MeSH
- buněčná diferenciace MeSH
- imunohistochemie MeSH
- jaderné proteiny analýza MeSH
- karcinom in situ chemie patologie MeSH
- lidé MeSH
- Merkelův nádor chemie patologie MeSH
- nádorové biomarkery analýza MeSH
- nádory komplexní a smíšené chemie patologie MeSH
- nádory kůže chemie patologie MeSH
- prediktivní hodnota testů MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- spinocelulární karcinom chemie patologie MeSH
- transkripční faktory analýza MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- Geografické názvy
- Evropa MeSH
An increased rate of second nonmelanoma skin cancers is found in immunocompromised patients. Epidemiological and molecular data implicate ultraviolet radiation as the major risk factor. In addition, there is increasing evidence supporting the role of human papillomavirus (HPV) in the pathogenesis of premalignant and malignant skin lesions in both immunocompetent and immunocompromised patients. In a retrospective cross-sectional study, the authors examined the expression of p16 by immunohistochemistry and the presence of mucosal (α-genus) and cutaneous/epidermodysplasia verruciformis (β-genus) HPV DNA by polymerase chain reaction in 29 biopsy specimens of extragenital/extraungual Bowen disease (BD) from 24 Eastern European white immunocompromised patients. Furthermore, the author evaluated the association between the expression of p16 protein and the presence of HPV DNA. Among 25 specimens from 21 patients evaluable by polymerase chain reaction, HPV DNA was detected in 10 (40%) BD lesions from 9 patients. Beta-HPV predominated over alpha-HPV types. Among 29 immunohistochemically evaluable BD specimens, 22 lesions (∼76%) from 20 patients were scored as p16 positive. HPV DNA-positive and HPV DNA-negative lesions displayed the same proportion of p16 positivity (80%) and no correlation was found between the HPV DNA presence and the p16 expression status. Our pilot study demonstrated that β-HPV infections predominate in BD cases diagnosed among immunocompromised patients, although high- and low-risk mucosal (alpha) HPV genotypes may be detected in a minority of cases. In contrast to anogenital HPV-associated lesions, positive p16 expression is not a reliable marker of high-risk α-HPV infection in BD cases, as it can be also detected in β-HPV infected and HPV-negative cases.
- MeSH
- biopsie MeSH
- Bowenova nemoc chemie imunologie virologie MeSH
- DNA testy na papilomavirus MeSH
- DNA virů genetika MeSH
- hostitel s imunodeficiencí * MeSH
- imunohistochemie MeSH
- infekce papilomavirem imunologie virologie MeSH
- inhibitor p16 cyklin-dependentní kinasy analýza MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery analýza MeSH
- nádory kůže chemie imunologie virologie MeSH
- Papillomaviridae genetika imunologie patogenita MeSH
- pilotní projekty MeSH
- prediktivní hodnota testů MeSH
- prekancerózy chemie imunologie virologie MeSH
- průřezové studie MeSH
- retrospektivní studie MeSH
- rizikové faktory MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- virová transformace buněk MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
The authors report a case of cutaneous angiosarcoma, composed predominantly of cytologically bland foamy cells, mimicking cutaneous xanthoma, dermal clear cell mesenchymal neoplasm, or clear cell dermatofibroma. The tumor occurred on the forehead and scalp of an 86-year-old white man with no history of radiation exposure. The tumor cells were positive for CD31, CD34, D2-40, FLI-1, and ERG, and were negative for CD68 and CD163. Conventional vasoformative areas, with atypia and mitoses that led to the correct final diagnosis, were found only in 1 of the 2 performed biopsies. Foamy cell angiosarcoma is probably one of the least common variants of cutaneous angiosarcoma and represents an important diagnostic pitfall.
- MeSH
- biopsie MeSH
- diferenciální diagnóza MeSH
- hemangiosarkom chemie patologie MeSH
- imunohistochemie MeSH
- kožní nemoci metabolismus patologie MeSH
- lidé MeSH
- nádorové biomarkery analýza MeSH
- nádory hlavy a krku chemie patologie MeSH
- nádory kůže chemie patologie MeSH
- prediktivní hodnota testů MeSH
- senioři nad 80 let MeSH
- skalp chemie patologie MeSH
- xantomatóza metabolismus patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
: Primary cutaneous marginal zone lymphoma (PCMZL) is one of the most common cutaneous B-cell lymphomas. It affects mostly patients in their fourth decade and manifests with multifocal nodules mostly on the arms and upper trunk in more than half of the patients. PCMZL is, however, rare in children and adolescents, with only 20 cases reported in patients aged 20 and younger. The authors present 3 cases of PCMZL in teenagers. The patients were 2 girls aged 18 and 13 and a 17-year-old boy. Two patients presented with multiple lesions involving various anatomic sites, whereas in 1 patient, 2 small closely opposed papules on the abdomen were seen. Histopathologically, the characteristic appearance of PCMZL was found in 3 of 4 specimens, with nodular infiltrates composed of small lymphocytes in the interfollicular compartment, reactive germinal centers, and plasma cells in small clusters mainly at the periphery of the infiltrates, whereas 1 specimen showed a dense lymphocytic infiltrate with small granulomas. Clonality was demonstrated by monotypic immunoglobulin light chain expression and/or monoclonal rearrangement of the immunoglobulin heavy chain genes. No Borrelia burgdorferi was identified on serology or by polymerase chain reaction in any of the cases. Treatment included excision or administration of antibiotics with complete remission in all the 3 patients indicating that PCMZL in children and young adolescents follows the same indolent course with a tendency for recurrences, but excellent prognosis as in adults. The pertinent literature on PCZL in childhood and adolescence is reviewed.
- MeSH
- antibiotika antitumorózní terapeutické užití MeSH
- biopsie MeSH
- dermatochirurgické výkony MeSH
- imunohistochemie MeSH
- indukce remise MeSH
- lidé MeSH
- lymfom z B-buněk marginální zóny * chemie genetika patologie terapie MeSH
- mladiství MeSH
- mnohočetné primární nádory * chemie genetika patologie terapie MeSH
- nádorové biomarkery analýza genetika MeSH
- nádory kůže * chemie genetika patologie terapie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
BACKGROUND: Trichofolliculomas and trichoepitheliomas are benign skin neoplasms originating from hair follicle cells. They result from defects in the signaling pathways that regulate hair follicle morphogenesis and regeneration. Thus they seem to be an excellent model of these processes. It is known that the E-cadherin/beta-catenin system of adhesion molecules plays a crucial role in the maintenance of tissue architecture. AIM: The aim of the present study was to investigate their involvement in benign hair follicle tumor development. METHODS: Semiquantitative intensity of expression were examined in formalin-fixed and paraffin-embedded tissue sections of 53 trichoepitheliomas, 15 trichofolliculomas and 19 normal skin samples by indirect immunohistochemistry. RESULTS: The intensity of E-cadherin/beta-catenin expression in tumor cells did not differ from controls. However, normal hair follicles cells exhibited membranous E-cadherin/beta-catenin expression, whereas both types of tumors, particularly trichoepitheliomas, showed E-cadherin/beta-catenin expression with a predominantly cytoplasmic localization. CONCLUSIONS: We suggest that this dystopic distribution of the E-cadherin/beta-catenin complex in hair follicle tumor cells may be a marker of cell-cell adhesion disruption which may contribute to the tumor formation.
- MeSH
- bazocelulární nádory chemie MeSH
- beta-katenin analýza MeSH
- imunohistochemie MeSH
- kadheriny analýza MeSH
- lidé MeSH
- nádory kůže chemie MeSH
- nemoci vlasů metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
