Adenoid cystic carcinoma (ACC) of the skin is a rare malignant neoplasm histologically identical to homonymous tumors in other organs. Cutaneous ACC has been found to harbor MYB gene activations, either through MYB chromosomal abnormalities or by generation of the MYB-NFIB fusion. In salivary gland ACC, in addition to the MYB gene, alterations in MYBL1, the gene closely related to MYB, have been reported. We studied 10 cases of cutaneous ACC (6 women, 4 men; and age range 51-83 years) for alterations in the MYB, NFIB, and MYBL1 genes, using FISH and PCR. MYB break-apart and NFIB break-apart tests were positive in 4 and 5 cases, respectively. MYB-NFIB fusions were found in 4 cases. The break of MYBL1 was found in 2 cases, and in one of them, the NFIB break-apart probe was positive, strongly indicating a MYBL1-NFIB fusion. In 2 cases, the MYB break-apart test was positive, whereas no MYB-NFIB was detected, strongly suggesting another fusion partner. It is concluded that MYBL1 alterations are detected in primary cutaneous ACC but are apparently less common compared with MYB and NFIB alterations.

• MeSH
• adenoidně cystický karcinom genetika   patologie   MeSH
• fenotyp MeSH
• fúze genů MeSH
• fúzní onkogenní proteiny genetika   MeSH
• genetická predispozice k nemoci MeSH
• genová přestavba MeSH
• hybridizace in situ fluorescenční MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery genetika   MeSH
• nádory kůže genetika   patologie   MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• protoonkogenní proteiny genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• trans-aktivátory genetika   MeSH
• transkripční faktory NFI genetika   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
• srovnávací studie MeSH
• Názvy látek
• fúzní onkogenní proteiny MeSH
• MYB-NFIB fusion protein, human MeSH Prohlížeč
• MYBL1 protein, human MeSH Prohlížeč
• nádorové biomarkery MeSH
• NFIB protein, human MeSH Prohlížeč
• protoonkogenní proteiny MeSH
• trans-aktivátory MeSH
• transkripční faktory NFI MeSH

To determine whether a subset of primary extramammary Paget disease (EMPD) may originate in anogenital mammary-like glands (AGMLG), the authors studied 181 specimens of EMPD, detailing alterations in AGMLG. The latter were identified in 33 specimens from 31 patients. All patients were women, ranging in age from 38 to 93 years (median, 65 y). In all cases, lesions involved the vulva and in 1 patient the perianal skin was affected. Histopathologically, AGMLG manifested changes identical to columnar cell change (CCC) (87.1%), usual ductal hyperplasia (22.6%), columnar cell hyperplasia (CCH) (9.7%), oxyphilic (apocrine) metaplasia (6.5%), and atypical duct hyperplasia (3.2%). Four cases (12.9%), in addition to intraepidermal carcinoma, harbored invasive carcinoma. In all 4 of these, AGMLG displayed a range of alterations including ductal carcinoma in situ, CCC, and CCH. Three further cases (9.7%) showed ductal carcinoma in situ without any definite invasive carcinoma. Colonization of AGMLG by neoplastic Paget cells was noted in 6 cases. As CCC and CCH may be encountered in normal AGMLG, these alterations are unlikely to play a significant role in the pathogenesis of the disease. However, by analogy with mammary Paget disease, rare cases of primary EMPD may originate in AGMLG with a subsequent upward migration of the neoplastic cells into the epidermis and possible later breach through the basal membrane. Usual ductal hyperplasia and atypical duct hyperplasia can then be regarded as earlier precursor lesions, linking both ends of the spectrum.

• MeSH
• anální kanál patologie   MeSH
• dospělí MeSH
• extramamární Pagetova nemoc etiologie   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory anu etiologie   patologie   MeSH
• nádory vulvy etiologie   patologie   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• vulva patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Anogenital mammary-like glands (AGMLGs) are nowadays considered a normal component of the anogenital area. Lesions involving AGMLGs are histopathologically very similar to their mammary counterparts, but the information on molecular biological mechanisms in these vulvar/perianal tumors is scarce. Mutations in the PI3K-AKT cascade have been found in hidradenoma papilliferum. The authors studied selected BRCA1, BRCA2, and PIK3CA mutations in series of benign and malignant neoplasms thought to be associated with AGMLGs, including 9 cases of primary extramammary Paget disease, 3 different cases of mammary-type carcinoma (adenoid cystic like, tubulolobular, and invasive ductal like), and 5 cases of hidradenoma papilliferum. No BRCA mutation was detected, whereas 3 neoplasms yielded PIK3CA mutation, including extramammary Paget disease, mammary-type invasive ductal carcinoma, and tubulolobular carcinoma. Our study expands the spectrum of lesions of AGMLGs harboring mutations in genes encoding the PI3K-AKT cascade. Further studies of the whole BRCA1 and BRCA2 genes using a larger cohort are needed to clarify their role in the pathogenesis of AGMLG lesions.

• MeSH
• extramamární Pagetova nemoc genetika   patologie   MeSH
• fosfatidylinositol-3-kinasy třídy I genetika   MeSH
• hodnocení rizik MeSH
• imunohistochemie MeSH
• jehlová biopsie MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• mléčné žlázy lidské patologie   MeSH
• mutace MeSH
• nádory anu genetika   patologie   MeSH
• nádory vulvy genetika   patologie   MeSH
• prognóza MeSH
• protein BRCA1 genetika   MeSH
• protein BRCA2 genetika   MeSH
• regulace genové exprese u nádorů MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• BRCA1 protein, human MeSH Prohlížeč
• BRCA2 protein, human MeSH Prohlížeč
• fosfatidylinositol-3-kinasy třídy I MeSH
• PIK3CA protein, human MeSH Prohlížeč
• protein BRCA1 MeSH
• protein BRCA2 MeSH

Extramammary Paget disease (EMPD) is a rare neoplasm usually presenting in the anogenital area, most commonly in the vulva. Adnexal involvement in primary EMPD is a very common feature and serves as a pathway for carcinoma to spread into deeper tissue. The depth of carcinomatous spread along the appendages and the patterns of adnexal involvement were studied in 178 lesions from 146 patients with primary EMPD. Hair follicles and eccrine ducts were the adnexa most commonly affected by carcinoma cells. The maximal depth of involvement was 3.6 mm in this series. When planning topical therapy or developing novel local treatment modalities for EMPD, this potential for significant deep spread along adnexa should be taken into account.

• MeSH
• biopsie MeSH
• dospělí MeSH
• ekrinní žlázy patologie   MeSH
• extramamární Pagetova nemoc patologie   terapie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory anu patologie   terapie   MeSH
• nádory kožních adnex patologie   terapie   MeSH
• nádory potních žláz patologie   terapie   MeSH
• nádory vulvy patologie   terapie   MeSH
• prognóza MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• vlasový folikul patologie   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
• multicentrická studie MeSH
• Geografické názvy
• Evropa MeSH
• Západní Austrálie 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

Eleven schwannomas are described. All tumors were well demarcated and surrounded by a true capsule or pseudocapsule and manifested Antoni A and Antoni B areas, Verocay bodies, and hyalinized vessels. In addition to typical schwannoma, there were clear cell areas composed of spindled cells arranged either in parallel sheets or in loops within the myxoid matrix, morphologically identical to retiform (reticular) perineurioma. The Schwann cells in the conventional schwannomatous areas displayed typical ultrastructural features. Those comprising the perineurioma-like areas revealed a primitive morphology. They were slender or polygonal and were devoid of an external lamina, pinocytic vesicles, or junctions. These findings suggest that the perineurioma-like areas consist of primitive or modified Schwann cells, or, alternatively, these perineurioma-like areas represent true, but incomplete perineurial differentiation within otherwise ordinary benign schwannomas. These neoplasms represent a morphologic variant of schwannoma having distinctive perineurial-like areas, a pattern which may elicit diagnostic difficulties.

• MeSH
• antigeny CD34 genetika   metabolismus   MeSH
• claudin-1 MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• membránové proteiny genetika   metabolismus   MeSH
• mucin 1 genetika   metabolismus   MeSH
• nádory nervové pochvy genetika   metabolismus   patologie   ultrastruktura   MeSH
• neurilemom genetika   metabolismus   patologie   ultrastruktura   MeSH
• proteiny S100 genetika   metabolismus   MeSH
• regulace genové exprese u nádorů 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
• kazuistiky MeSH
• Názvy látek
• antigeny CD34 MeSH
• claudin-1 MeSH
• CLDN1 protein, human MeSH Prohlížeč
• membránové proteiny MeSH
• mucin 1 MeSH
• proteiny S100 MeSH