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Secretory Carcinoma of the Skin: Report of 6 Cases, Including a Case With a Novel NFIX-PKN1 Translocation
L. Kastnerova, B. Luzar, K. Goto, V. Grishakov, Z. Gatalica, J. Kamarachev, P. Martinek, V. Hájková, P. Grossmann, H. Imai, H. Fukui, M. Michal, DV. Kazakov,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Odkazy
PubMed
31045890
DOI
10.1097/pas.0000000000001261
Knihovny.cz E-zdroje
- 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
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.
Bioptical Laboratory Pilsen Czech Republic
Department of Dermatology University Hospital Zurich Zurich Switzerland
Department of Pathology Caris Life Sciences Phoenix AZ
Department of Pathology Moscow City Oncology Hospital №62 Moscow Russia
Department of Surgical Pathology Hokkaido University Hospital Sapporo Japan
Institute of Pathology Medical Faculty University of Ljubljana Ljubljana Slovenia
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- $a 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.
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