Primary signet ring stromal tumor of the testis (PSRSTT) is an extremely rare tumor described only twice in the literature. Pancreatic-analogue solid pseudopapillary neoplasm (SPN) of the testis is a recently reported entity with morphological overlap with PSRSTT. We reviewed our files to find all cases of PSRSTT to better characterize this entity. We studied 13 cases of PSRSTTs using histological, immunohistochemical (IHC), and molecular genetic methods and compared the results with pancreatic SPN. Grossly, the size of PSRSTTs ranged from 0.5 to 2 cm (mean 1.1). Microscopically, PSRSTTs predominantly showed a proliferation of low-grade epithelioid cells containing characteristic cytoplasmic vacuole dislodging the nucleus (signet ring cells) separated by fibrous septa into trabeculae and nests. The immunoprofile was characterized by immunoreactivity for β-catenin, cyclin D1 (nuclear positivity for both antibodies), CD10, vimentin, galectin-3, claudin 7, α-1-antitrypsin, CD56, and neuron-specific enolase and negativity for chromogranin, inhibin, calretinin, SF-1, NANOG, OCT3/4, and SALL4. In some cases, the IHC panel was restricted because of a limited amount of tissue. Molecular genetic analysis revealed mutations within exon 3 of the CTNNB1 encoding β-catenin in all analyzable cases. Based on histological similarities between pancreatic SPN and PSRSTT and their identical IHC and molecular genetic features, we assume that both neoplasms share the same pathogenesis, and thus, PSRSTT can be considered as a testicular analogue of pancreatic SPN.

• MeSH
• beta-katenin analýza   genetika   MeSH
• biopsie MeSH
• buněčná diferenciace MeSH
• buněčný rodokmen MeSH
• dospělí MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• gonadální stromální nádory * chemie   genetika   imunologie   patologie   MeSH
• imunohistochemie MeSH
• karcinom z prstenčitých buněk * chemie   genetika   imunologie   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• nádorové biomarkery analýza   genetika   MeSH
• nádory slinivky břišní * chemie   genetika   imunologie   patologie   MeSH
• proliferace buněk MeSH
• stupeň nádoru MeSH
• testikulární nádory * chemie   genetika   imunologie   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH

We describe the first pancreatic analogue of solid pseudopapillary neoplasm arising in paratesticular location. It was a tumor arising in 32-year-old man adhering closely to the testis. The tumor had several morphologic components. The greatest was represented by signet ring cells which gradually changed into solid, non-signet ring cell areas, often being mixed together. It also formed distinct trabeculae and pseudopapillae frequently adhering to cystic areas of the tumor. Immunohistochemically, the tumor had an identical profile to its pancreatic counterpart. The tumor cells reacted diffusely with S100 protein, β-catenin, cyclin D1, Fli-1, vimentin, CD10, galectin-3, and neuron-specific enolase and focally with synaptophysin. CD56 and E-cadherin reacted only in those parts of the tumor, which formed pseudopapillae. Cytokeratin antibody AE1-AE3 was strongly positive in the areas of trabecular formation of the tumor. The mutational analysis of exon 3 of the CTNNB1 gene confirmed mutation in this exon.

• MeSH
• beta-katenin analýza   genetika   MeSH
• biopsie MeSH
• dospělí MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• imunohistochemie MeSH
• karcinom z prstenčitých buněk chemie   genetika   patologie   chirurgie   MeSH
• lidé MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• nádorové biomarkery analýza   genetika   MeSH
• nádory komplexní a smíšené chemie   genetika   patologie   terapie   MeSH
• nádory slinivky břišní chemie   genetika   patologie   terapie   MeSH
• testikulární nádory chemie   genetika   patologie   chirurgie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Mammary analogue secretory carcinoma of salivary gland origin (MASC) is a recently described tumor resembling secretory carcinoma of the breast characterized by strong S-100 protein, mammaglobin, and vimentin immunoexpression and which harbors a t(12;15) (p13;q25) translocation resulting in ETV6-NTRK3 fusion product. Histologically, conventional MASC displays bland histomorphology and a lobulated growth pattern and is often composed of microcystic, tubular, and solid structures with abundant eosinophilic homogenous or bubbly secretions. Colloid-like secretory material stains positively for periodic acid-Schiff with and without diastase as well as for Alcian Blue. We present for the first time, 3 patients with MASC of the parotid gland in which high-grade (HG) transformation developed in each case characterized by an accelerated clinical course and poor outcome. The HG component revealed strong membrane staining for EGFR and β-catenin, cytoplasmic/nuclear staining for S-100 protein, and nuclear staining for cyclin-D1, whereas HER-2/neu was absent. Analysis for the presence of the ETV6-NTRK3 fusion transcript revealed positivity in both HG and low-grade component of MASC in 2 of the 3 studied cases. The tumor in case 2 was negative in both its elements for the t(12;15) translocation, but ETV6 gene rearrangement was detected in both components in all 3 cases. Analysis of TP53 and CTNNB1 gene mutations in the HG component of MASCs as well as detection of copy number aberration of EGFR and CCND1 gene did not harbor any abnormalities. All 3 patients with HG-transformed MASC died of disseminated disease within 2 to 6 years after diagnosis. Recognizing HG-transformed MASC and testing for ETV6 rearrangement may be of potential value in patient treatment, because the presence of the ETV6-NTRK3 translocation may represent a therapeutic target in MASC.

• MeSH
• beta-katenin analýza   genetika   MeSH
• biopsie MeSH
• časové faktory MeSH
• cyklin D1 analýza   genetika   MeSH
• erbB receptory analýza   genetika   MeSH
• fatální výsledek MeSH
• fúzní onkogenní proteiny genetika   MeSH
• imunohistochemie MeSH
• karcinom chemie   genetika   sekundární   terapie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• nádorová transformace buněk genetika   patologie   MeSH
• nádorové biomarkery analýza   genetika   MeSH
• nádorový supresorový protein p53 genetika   MeSH
• nádory příušní žlázy chemie   genetika   patologie   terapie   MeSH
• prognóza MeSH
• senioři MeSH
• stupeň nádoru MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky 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