Mammary analogue secretory carcinoma is a low-grade salivary gland carcinoma that exhibits analogous features to secretory carcinoma of the breast including the presence of a t(12;15) translocation resulting in the ETV6-NTRK3 gene fusion. Rare cases of purported secretory carcinoma of the skin adnexa have been reported, but their relationship to true secretory carcinoma of the breast and salivary glands is unclear, as they generally do not harbor ETV6 rearrangements. Cases of cutaneous neoplasms with histologic features identical to secretory carcinoma of the breast and salivary glands were identified from the consultation files of 3 academic medical institutions. Immunohistochemistry was performed for S100 protein, mammaglobin and STAT5a. Break-apart fluorescence in situ hybridization was used evaluate for disruption of the ETV6 gene. Six cases of cutaneous secretory carcinoma were identified. The tumors arose in 4 women and 2 men, ranging from 24 to 71 years in age (mean, 47 y). The carcinomas presented in the skin of the axilla (n=4), ventral neck (n=1), and cheek (n=1). The tumors arose in the superficial dermis in association with adnexal structures. None of the patients had a prior or concurrent breast or salivary gland tumor. They were histologically characterized by well-circumscribed but unencapsulated proliferations of bland, eosinophilic cells arranged in microcysts and follicles with intraluminal secretions. Ectopic breast or salivary gland tissue was not identified. The cases were diffusely positive for S100 protein (6 of 6), mammaglobin (6 of 6), and STAT5a (5 of 5). All 6 cases harbored rearrangements of ETV6. All tumors were treated by simple excision alone. No recurrences or metastases developed in the 2 cases with follow-up. Secretory carcinoma of the skin represents a phenotypic, immunohistochemical, and genetic counterpart to secretory carcinoma of the breast and salivary glands. This tumor entity is less anatomically restricted than previously supposed.
- MeSH
- dospělí MeSH
- fúzní onkogenní proteiny genetika MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- karcinom genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- nádory kožních adnex genetika patologie MeSH
- nádory kůže genetika patologie MeSH
- nádory prsu genetika patologie MeSH
- nádory slinných žláz genetika patologie MeSH
- sekreční karcinom mamárního typu genetika patologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- bazocelulární nádory genetika MeSH
- intracelulární signální peptidy a proteiny biosyntéza metabolismus MeSH
- kožní T-buněčný lymfom genetika klasifikace MeSH
- lidé MeSH
- MAP kinasový signální systém fyziologie genetika MeSH
- melanom genetika MeSH
- Merkelův nádor genetika MeSH
- nádorová transformace buněk genetika metabolismus patologie MeSH
- nádory kožních adnex genetika MeSH
- nádory kůže * genetika patofyziologie MeSH
- nádory ze svalové tkáně genetika klasifikace MeSH
- onkogeny genetika MeSH
- protoonkogeny genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
We report 11 individuals, each presenting with few (2-4) adnexal neoplasms histologically confirmed as belonging to the spectrum of lesions typical for Brooke-Spiegler syndrome (BSS) and/or multiple familial trichoepitheliomas. These include spiradenoma, cylindroma, spiradenocylindroma, and trichoblastoma variants. Our objective was to clarify whether this is merely a sporadic, albeit unusual, occurrence of multiple neoplasms in these patients or whether they are related to BSS and its phenotypic variant, multiple familial trichoepithelioma. Six patients presented with 2 neoplasms, 4 had 3 lesions and the last had 4 lesions. In none was there any family history of similar lesions. The 28 neoplasms consisted of 7 spiradenomas, 6 cylindromas, 5 spiradenocylindromas, and 11 trichoblastomas (6 trichoepitheliomas and 5 with mixed patterns). In 1 patient only with 2 spiradenomas, both tumors harbored identical CYLD sequence alterations (c.1112C>A/S371X) in the CYLD gene and both showed loss of heterozygosity on chromosome 16q. The remaining cases yielded neither germ line nor somatic alterations in CYLD. It is concluded that the presentation with few (2-4) cylindromas, spiradenomas, spiradenocylindromas, and trichoepitheliomas is a sporadic occurrence, and that these patients do not have any relationship to BSS.
- MeSH
- biopsie MeSH
- dědičné nádorové syndromy genetika patologie MeSH
- dědičnost MeSH
- dospělí MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- kůže patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- lidské chromozomy, pár 16 MeSH
- mladiství MeSH
- mnohočetné primární nádory genetika patologie MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory kožních adnex genetika patologie MeSH
- nádory kůže genetika patologie MeSH
- prediktivní hodnota testů MeSH
- retrospektivní studie MeSH
- senioři MeSH
- ztráta heterozygozity MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Two unusual Carney complex patients are described. In one of them, several cutaneous biopsies revealed myxoid lesions that were rather more close to authentic adnexal neoplasms with myxoid stroma than to a "myxoma with an epithelial component." These included lesions resembling trichofolliculoma, infundibular cyst, and trichodiscoma. Additionally, 1 soft tissue myxoma was unique in the sense that it greatly resembled a cardiac myxoma, begging the question whether this could represent an embolus from the patient's cardiac myxoma. Given the large size and complexity and heterogeneity of the cutaneous lesions, the authors suggest that these may represent authentic cutaneous neoplasms accompanied by myxoid stroma and not adnexal elements induced by the stroma. However, the latter mechanism is well recognized and demonstrated by our second patient in whom adnexal-type elements in the cutaneous lesion were clearly induced by the myxoid stroma but were unusually complex by manifesting panfollicular and also sebaceous differentiation.
- MeSH
- biopsie MeSH
- buněčná diferenciace MeSH
- buňky stromatu patologie MeSH
- Carneyův komplex genetika patologie MeSH
- dospělí MeSH
- lidé MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- nádory kožních adnex genetika patologie MeSH
- nádory kůže genetika patologie MeSH
- nádory měkkých tkání genetika patologie MeSH
- proteinkinasy závislé na cyklickém AMP, podjednotka RIalfa genetika MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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
We report a patient with multiple trichoepitheliomas whose biopsy material also demonstrated a range of other neoplasms with follicular differentiation, including small nodular trichoblastoma, small nodular basal cell carcinoma (BCC), and areas resembling infundibulocystic BCC/basaloid follicular hamartoma. These were all intimately associated with otherwise typical trichoepitheliomas that dominated the microscopic appearances. Peripheral blood and tumor tissues of the patient and his 2 daughters, who apparently had a milder phenotype, were studied for alterations in the CYLD and PTCH genes, but mutations or loss of heterozygosity was not found in either gene. The occurrence of multiple follicular neoplasms within a single lesion adds evidence that, although in most cases BCC and trichoblastoma are distinct lesions, the 2 neoplasms do encompass a morphological spectrum of follicular differentiation, which is probably more overtly expressed in syndromic patients.
- MeSH
- bazocelulární nádory genetika patologie MeSH
- buněčná diferenciace MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- lidé MeSH
- mladiství MeSH
- mnohočetné primární nádory genetika patologie MeSH
- nádorové supresorové proteiny genetika MeSH
- nádory kožních adnex genetika patologie MeSH
- nádory kůže genetika patologie MeSH
- receptory buněčného povrchu genetika MeSH
- rodokmen MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH