Apocrine mixed tumor of the skin is a benign adnexal neoplasm usually posing no diagnostic problem for a histopathologist. The purpose of our investigation is to present a small series of 4 benign cutaneous apocrine mixed tumors of the skin that contained small foci of intravascular tumor deposits, a feature not previously described, to the best of our knowledge. The 4 lesions were identified retrospectively after a review of 312 apocrine mixed tumors and 51 eccrine mixed tumors in the collective files of the authors. In all cases, this feature was originally overlooked. The patients were 3 men and 1 woman, ranging in age at diagnosis from 29 to 66 years. Locations included nose (2), forehead (1), and the fifth toe (1). Histopathologically, all 4 neoplasms demonstrated typical features of a benign apocrine mixed tumor; 2 cases were classified as hyaline cell-rich tumors. In all cases, there were either blood or lymphatic vessels containing small intraluminal collections of neoplastic cells, which had the appearances of hyaline cells and immunohistochemically expressed cytokeratins and were partly immunoreactive for S-100 protein and calponin, thus indicating the myoepithelial phenotype. The intravascular location of the neoplastic cells was confirmed by CD31 staining. The nature of the vessels (lymphatics vs. blood vessels) was supported by staining for alpha smooth muscle actin, which stained pericytes in blood vessels. Lymphatic vessels were also stained for D2-40. No eccrine mixed tumor manifested intravascular tumor deposits. Follow-up of the patients revealed no recurrences or metastasis (range: 2-21 years). It is concluded that occurrence of intravascular involvement in benign apocrine mixed tumor of the skin is rare (approximately 1%-2%). This feature is discrete and is easy to overlook. At present, its significance is not completely clear. Until proved otherwise in future, we suggest to consider intravascular deposits in cutaneous apocrine mixed tumors as an innocuous phenomenon.

• MeSH
• apokrinní žlázy chemie   patologie   MeSH
• biopsie MeSH
• dospělí MeSH
• imunohistochemie MeSH
• lidé MeSH
• nádorové biomarkery analýza   MeSH
• nádory komplexní a smíšené chemie   diagnóza   patologie   MeSH
• nádory potních žláz chemie   diagnóza   patologie   MeSH
• prediktivní hodnota testů MeSH
• prognóza MeSH
• retrospektivní studie MeSH
• senioři MeSH
• vaskulární nádory chemie   diagnóza   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorové biomarkery MeSH

We present a series of 18 atypical apocrine mixed tumors of the skin characterized by architectural and/or cytologic atypia but which nevertheless do not qualify these lesions as carcinomas. There were 15 males and 3 females, and all but 1 presented with solitary nodules ranging in size from 4 to 20 mm; 1 female had a large tumor of 12 cm. The tumors were preferentially located on the head area, especially the face (13 cases). Other locations included the lower extremities (3) and inguinal area (2). In all patients, surgical excision of the tumors was performed. Clinical follow-up was available in 11 cases and ranged from 1 to 24 years (mean 9.6 y; median 5 y). No recurrences or metastases were documented. Overall, the lesions manifested a rather benign architecture, usually with good circumscription, lack of capsular breach or hypercellularity; however, some asymmetry, focally irregular infiltrationlike or pushing tumorous borders were seen. Microscopically, 17 cases conformed to the so-called hyaline cell-rich variant and showed multinucleated, bizarre, hyperchromatic cells in hyaline cell areas that had a myoepithelial immunophenotype; in 1 case, atypical mitotic figures were noted. One case showed mild nuclear pleomorphism in the ductal component. Tumors were negative for p53, including bizarre giant cells that did not label with Ki-67. Ultrastructurally, hyaline cells exhibited features consistent with myoepithelial differentiation. Seven cases studied by immunohistochemistry proved negative for HER-2/neu (c-erbB-2) protein expression, and the HER-2/neu gene was not amplified by fluorescence in situ hybridization analysis in 5 cases tested. As controls, 4 authentic malignant mixed tumors were studied, but these likewise tested negative for HER-2/neu protein expression and showed no gene amplification; 1 malignant mixed tumor had polysomy 17. We conclude that some atypical cytoarchitectural features in apocrine mixed tumors, albeit worrisome, do not indicate a malignant change.

• MeSH
• apokrinní žlázy chemie   patologie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery analýza   MeSH
• nádory komplexní a smíšené chemie   patologie   chirurgie   MeSH
• nádory potních žláz chemie   patologie   chirurgie   MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorové biomarkery MeSH

BACKGROUND: A systematic analysis of the entire spectrum of various forms of differentiation and metaplastic epiphenomena in cutaneous apocrine mixed tumor (AMT) has never been performed. OBJECTIVE: The purpose of our study was to study a large number of cutaneous mixed tumors so as to fully characterize the entire spectrum of differentiations and metaplastic changes that may occur in the epithelial, myoepithelial, and stromal components of AMT. METHODS: This article reports a light-microscopic study of 244 cases of cutaneous AMT, complemented by a literature review. RESULTS: All types of differentiation along the lines of the folliculosebaceous-apocrine unit can be seen in AMT. The spectrum of metaplastic changes in the epithelial components includes squamous metaplasia, mucinous metaplasia, oxyphilic metaplasia, clear cell change, columnar metaplasia, hobnail metaplasia, and cytoplasmic vacuolization. The following changes in the myoepithelial component were documented: clear cell change, hyaline cells, plasmacytoid cells, spindling, and collagenous spherulosis. Stromal alterations included chondroid metaplasia, osseous metaplasia, and adipose metaplasia. LIMITATIONS: This study utilizes tissue specimens that mainly came as consultations; therefore some inherent selection bias exists. CONCLUSIONS: AMT displays a wide range of differentiation and metaplastic changes in its epithelial, myoepithelial, and stromal components. These phenomena are not mutually exclusive. When unduly prominent, they may present diagnostic pitfalls. Our findings corroborate those of previous publications, stressing the remarkable diversity of differentiation and metaplasias that may be found in cutaneous AMT. We propose that the most appropriate name for these lesions is "mixed tumor of the folliculosebaceous-apocrine complex."

• MeSH
• apokrinní žlázy * patologie   MeSH
• buněčná diferenciace MeSH
• dítě MeSH
• dospělí MeSH
• epitel patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mazové žlázy patologie   MeSH
• metaplazie MeSH
• mladiství MeSH
• nádory kůže patologie   MeSH
• nádory potních žláz patologie   MeSH
• pleomorfní adenom patologie   MeSH
• senioři MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Myoepithelial neoplasms of the skin and soft tissue still represent a confusing and somewhat controversial field in pathology as it appears that this category includes several different entities. However, recent studies have suggested that both apocrine mixed tumors (AMT) and cutaneous myoepitheliomas (CM) harbor identical chromosomal rearrangements involving the PLAG1 gene and hence may represent a morphological spectrum. The aim of the present study was to share our institutional experience with these tumors and specifically focus on studying their immunohistochemical and molecular features to further assess their relatedness. Eleven cases of AMT and 7 cases of CM were collected and analyzed using immunohistochemistry (IHC), PLAG1 FISH, and Archer FusionPlex assay. There were 14 male and 4 female patients with ages ranging from 26 to 85 years (median 55.8 years, mean 58.5 years). AMTs were mainly located in the head and neck (n = 10), while CMs were mainly located in the acral sites (n = 5). PLAG1 IHC was diffusely strongly positive in 14/17 (82%) cases, whereas a single case of AMT diffusely expressed HMGA2. Both tumor groups showed PLAG1 gene fusions which were detected in 6/13 analyzable samples (AMT, n = 4 and CM, n = 2), and included TRPS1::PLAG1 (n = 3), NDRG1::PLAG1 (n = 1), CTNNB1::PLAG1 (n = 1) and a novel PXDNL::PLAG1 fusion (n = 1). The remaining 5 cases were negative, 5 were not analyzable and the single case positive for HMGA2 by IHC revealed a potential HMGA2 gene rearrangement. The cases were further studied by FISH, with 12/17 cases showing PLAG1 gene rearrangement (AMT, n = 8 and CM, n = 4). Altogether, 14/18 cases showed PLAG1 gene rearrangement by at least one of the methods. PLAG1 immunohistochemistry had a 92% specificity and sensitivity. Our study provided additional data to suggest that AMT and CM share overlapping morphological and immunohistochemical features as well as molecular background characterized by PLAG1 gene fusions and thus represent a morphological spectrum. In addition, we identified a novel PXDNL::PLAG1 fusion and suggested that rare cases may harbor HMGA2 gene alterations which seem to be mutually exclusive with PLAG1 gene fusions. The relatedness of these tumors to salivary gland myoepithelial neoplasms and distinctness from eccrine mixed tumors and other skin and soft tissue myoepithelial neoplasms with EWSR1/FUS fusions is discussed.

• Klíčová slova
• HMGA2, PLAG1, Apocrine mixed tumors, Cutaneous myoepitheliomas, Myoepithelial neoplasm, Targeted RNA sequencing,
• Publikační typ
• časopisecké články MeSH

: The authors present 2 cases of a subcutaneous biphasic synovial sarcoma with marked apocrine differentiation that potentially may be confused with cutaneous epithelial neoplasms, including malignant apocrine mixed tumor or metaplastic carcinoma with an apocrine glandular component. Microscopically, both neoplasms had a biphasic architecture with the epithelial and spindle cell components. The epithelial component was prominent and consisted of simple glands with round lumina and complex glandular structures with intraluminal bridges forming cribriform areas. The glands were lined by cuboidal to columnar cells with eosinophilic or clear cytoplasm manifesting apical apocrine-like and intraluminal eosinophilic secretions. The spindle cell component was less prominent and was composed of relatively uniform or slightly atypical spindle sells surrounding and merging focally with the glandular structures. Immunohistochemically, the tumor cells in both components were positive for vimentin, AE1/AE3, CK7, and epithelial membrane antigen. Desmin, smooth muscle actin, muscle-specific actin, CD34, and S-100 protein were all negative. SYT-SSX1 gene fusion using fluorescence in situ hybridization and RT-PCR methods was detected in both cases.

• MeSH
• apokrinní žlázy patologie   MeSH
• buněčná diferenciace MeSH
• fúzní onkogenní proteiny genetika   MeSH
• hybridizace in situ fluorescenční MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery analýza   MeSH
• nádory měkkých tkání genetika   patologie   MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• synoviom genetika   patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• fúzní onkogenní proteiny MeSH
• nádorové biomarkery MeSH
• SYT-SSX fusion protein MeSH Prohlížeč

Previous studies suggested that mutant beta-catenin gene cells in cutaneous adnexal tumors with matrical differentiation contribute to their tumorigenesis. Except for pilomatricoma and pilomatrical carcinoma, only a handful of other cutaneous adnexal tumor types have been studied. DNA was extracted from 86 lesions including 17 proliferating tricholemmal and trichilemmal tumors, 15 trichoblastomas, 7 trichoadenomas, 4 pilomatricomas, 1 pilomatrical carcinoma, 4 basal cell carcinomas (BCCs) with shadow cells, 2 trichofolliculomas, 3 BCCs with sebaceous differentiation, 9 sebaceous adenomas, 6 sebaceomas, 14 sebaceous carcinomas (both ocular and extraocular forms), 2 gigantic horns, and 2 apocrine mixed tumors with shadow cells and subjected to polymerase chain reaction with newly designed primers encompassing glycogen synthase kinase-3beta phosphorylation sites of the CTNNB1 gene. Also, 3 craniopharyngiomas were studied. Sequenced polymerase chain reaction products for possible beta-catenin gene mutations showed a total of 8 alterations. These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). This study broadens the list of cutaneous adnexal tumors harboring CTNNB1 mutations and extends the listing of the mutations occurring in these neoplasms.

• MeSH
• beta-katenin genetika   MeSH
• buněčná diferenciace MeSH
• dítě MeSH
• dospělí MeSH
• exony * MeSH
• kraniofaryngeom genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• molekulární sekvence - údaje MeSH
• mutace * MeSH
• mutační analýza DNA MeSH
• nádory hypofýzy genetika   MeSH
• nádory kožních adnex genetika   patologie   MeSH
• nádory kůže genetika   patologie   MeSH
• předškolní dítě MeSH
• regulace genové exprese u nádorů MeSH
• sekvence nukleotidů MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• beta-katenin MeSH
• CTNNB1 protein, human MeSH Prohlížeč

We describe 12 cutaneous and soft tissue myoepitheliomas, most of them in elderly patients. Morphologically the cutaneous and soft tissue myoepitheliomas revealed the same spectrum as their salivary gland counterparts. They were composed of a mixture of spindle, epithelioid and clear myoepithelial cells. Immunohistochemically they were positive to keratins and S-100 protein and reacted inconsistently with antibodies to smooth muscle actin. Morphologically they lacked any folliculo-sebaceous or apocrine differentiation. We believe that they are related to the eccrine type of cutaneous mixed tumours. Most cases had a benign behaviour, but 1 tumour metastasized, and the patient died of the tumour. Myoepitheliomas of soft tissues should be distinguished from other neoplasms with epithelial differentiation and from ossifying fibromyxoid tumour of soft parts, parachordoma and extraskeletal myxoid chondrosarcoma.

• MeSH
• dospělí MeSH
• imunohistochemie MeSH
• keratiny analýza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• myoepiteliální nádor chemie   patologie   MeSH
• nádory kůže chemie   patologie   MeSH
• nádory měkkých tkání chemie   patologie   MeSH
• proteiny S100 analýza   MeSH
• senioři nad 80 let MeSH
• senioři 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
• kazuistiky MeSH
• srovnávací studie MeSH
• Názvy látek
• keratiny MeSH
• proteiny S100 MeSH