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1.
Artigo em Inglês | MEDLINE | ID: mdl-32039037

RESUMO

Background: Assessment of human papillomavirus (HPV) type-specific viral load (VL) is a valid tool for determining the etiology of HPV-related skin tumors, especially when more than one HPV type is detected within one lesion. Methods: The causative HPV type was determined in 185 fresh-frozen tissue specimens of histologically confirmed common warts (CWs) collected from 121 immunocompetent patients. All tissues were tested using the type-specific quantitative real-time polymerase chain reactions (PCR) for the most common wart-associated Alpha-PV (HPV2/27/57) and Mu-PV types (HPV1/63/204). The presence of 23 additional low-risk HPVs was evaluated using a conventional wide-spectrum PCR. Results: HPV DNA was detected in 176/185 (95.1%) CWs and multiple HPV types in 71/185 (38.4%) lesions. Using the VL approach and a robust cutoff of one viral copy/cell established in this study, HPV2/27/57 were determined as causative agents in 41/53 (77.3%) and 53/71 (74.7%) CWs with single and multiple HPVs, respectively. Conclusions: CWs are mostly etiologically associated with HPV2/27/57 and only rarely with HPV1. In the majority of CWs containing multiple HPVs, a single HPV type was present in high concentration, indicating etiological association. No significant differences in VLs of lesion-causing HPV types in CWs containing single or multiple HPVs were found.

2.
Mod Pathol ; 33(8): 1527-1536, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32094426

RESUMO

Pure intravascular growth of epithelioid hemangioma (EH) is exceptional. Herein, we report a series of 21 intravascular EHs, representing a potential serious diagnostic pitfall by mimicking malignant vascular neoplsms with epithelioid morphology. The tumors developed in 12 males and 4 females, aged from 11 to 71 years (mean age 40.2 years) with a predilection for the extremities (13 of 21, 61.9%), followed by the head and neck (8 of 21, 38.1%). Lesions ranged in size from 2 to 30 mm (mean size 13 mm). The most common presenting feature was a slowly growing nodule. Most neoplasms were solitary (13 of 16 patients, 81.2%) but three patients developed more than one intravascular EH (3 of 16, 18.8%). Treatment consisted of complete surgical excision and was generally curative. Follow-up was available for 13 lesions that had developed in ten patients (range 4-72 months, mean 27.3 months). No recurrences or development of additional tumors were observed. All 21 lesions developed in subcutaneous veins. Two morphological patterns of intravascular epithelioid endothelial cell proliferation were observed: (1) a lobular capillary hemangioma-like proliferation with variable formation of open vascular lumina and (2) a solid proliferation generally lacking open vascular spaces. A lobular capillary hemangioma-like pattern was the sole pattern in nine lesions, a mixed lobular hemangioma-like pattern, and solid pattern in eight and a pure solid pattern in four intravascular EHs. Mitotic activity in epithelioid endothelial cells ranged from 0 to 7 mitoses per 10 high-power field (mean 2.1 mitoses per 10 HPFs). Six lesions displayed brisk mitotic activity of five or more mitoses per 10 HPF (6 of 21, 28.5%). The number of mitoses was usually more prominent in areas with solid growth. Atypical mitoses were not observed. No intratumoral necroses were seen. Cytological atypia was mild (20 out of 21 cases). By immunohistochemistry, all tumors were positive for CD31 (14 out of 14) and ERG (5 out of 5). While all tested cases were FOS negative by immunohistochemistry (6 out of 6), one out of six cases (case 6) displayed FOSB nuclear positivity in about 30% of the lesional endothelial cells. Eight cases were analysed by FISH for the presence of FOS and FOSB gene rearrangements. While all cases were negative for FOSB rearrangements, a single case proved positive for FOS gene break-apart. In conclusion, intravascular growth of EH is not associated with adverse biological behavior. Solid intravascular proliferations of endothelial cells can mimic a malignant vascular tumor with epithelioid morphology. Nevertheless, intravascular EHs display mild cytological atypia coupled with low mitotic activity, and a lack of atypical mitoses, pronounced nuclear atypia, multilayering or tumor necrosis. Finally, the FOS gene is infrequently rearranged, and there are no FOSB gene abnormalities in this subset of EHs, suggesting a potential distinct pathogenesis than most classic EHs.

3.
Am J Surg Pathol ; 44(1): 21-29, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31688004

RESUMO

The proliferation of cells with melanocytic lineage and a nested pattern has traditionally been regarded as a characteristic feature of a wide range of benign and malignant melanocytic proliferations. Herein, we report a series of 4 clear cell sarcomas, including 3 primary cutaneous and 1 metastatic to the skin, associated with a clear-cut intraepidermal proliferation of tumor cells representing a serious potential diagnostic pitfall. All patients were male individuals, aged from 17 to 71 years (mean: 42 y). The size of the tumors ranged from 8 to 55 mm (mean: 22.2 mm, median: 13 mm). Two tumors arose on a lower extremity and 1 each on the scalp and chest. Cutaneous metastasis developed on the limb proximal to the amputation site. Histologically, all tumors were variably circumscribed nodular or multinodular proliferations within the dermis, focally extending into the subcutis. They were composed of nests and fascicles of pale spindled and epithelioid cells with finely granular or pale cytoplasm, elongated nuclei with a single prominent nucleolus, featuring mild nuclear pleomorphism, and surrounded by delicate fibrous septa. Scattered wreath-like giant cells were present in all cases. Mitotic activity was low (mean and median: 3.5 mitoses/mm). The intraepidermal component consisted in all 4 cases of nests of tumor cells localized at the dermal-epidermal junction. Nests were well-defined and composed of spindled or epithelioid cells with irregular hyperchromatic nuclei, prominent nucleoli, and scant to moderately abundant eosinophilic to pale cytoplasm. Lentiginous proliferation of epithelioid tumor cells was coupled with focal upward migration of isolated tumor cells in a single case. By immunohistochemistry, all tumors were S100 protein, melan A, and HMB45 positive. By fluorescence in situ hybridization analysis, 3 tumors displayed rearrangements in the EWSR1 gene, whereas reverse transcriptase polymerase chain reaction confirmed EWSR1(e8)/ATF1(e4) translocation in the remaining case. In conclusion, an epidermal component in primary cutaneous clear cell sarcomas, or cutaneous metastasis of the tumor, is exceptional and represents a potential diagnostic pitfall. Careful attention to the salient morphologic features in the dermal component of the tumor, as well as confirmation of EWSR1 gene rearrangement by fluorescence in situ hybridization or reverse transcriptase polymerase chain reaction, is necessary for correct recognition of the tumor and to avoid erroneous diagnosis of a benign or malignant melanocytic proliferation.


Assuntos
Sarcoma de Células Claras/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Proliferação de Células , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/secundário , Adulto Jovem
4.
J Cutan Pathol ; 46(11): 858-863, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31206756

RESUMO

Aneurysmal bone cyst (ABC) is a benign, expansile, multiloculated and blood-filled cystic lesion most commonly involving bones. We report herein the case of a 78-year-old woman with a dermal ABC located in the skin of the right foot. Histologically, the lesion displayed characteristic features of ABC, including blood-filled cystic spaces lined by loose connective tissue, admixed with solid areas composed of spindle cells and osteoclast-like giant cells, associated with foci of woven bone formation and matrix calcification ("blue bone" formation). Fewer than 30 cases of extraosseous ABCs have been described in soft tissues and, to the best of our knowledge, ABC primarily occurring in the skin, not associated with an underlying lesion in the bone, has not so far been reported in the literature.


Assuntos
Cistos Ósseos Aneurismáticos/metabolismo , Cistos Ósseos Aneurismáticos/patologia , Osteoclastos/metabolismo , Osteoclastos/patologia , Pele/metabolismo , Pele/patologia , Idoso , Feminino , Humanos
5.
Nat Commun ; 10(1): 2213, 2019 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-31101826

RESUMO

Spiradenoma and cylindroma are distinctive skin adnexal tumors with sweat gland differentiation and potential for malignant transformation and aggressive behaviour. We present the genomic analysis of 75 samples from 57 representative patients including 15 cylindromas, 17 spiradenomas, 2 cylindroma-spiradenoma hybrid tumors, and 24 low- and high-grade spiradenocarcinoma cases, together with morphologically benign precursor regions of these cancers. We reveal somatic or germline alterations of the CYLD gene in 15/15 cylindromas and 5/17 spiradenomas, yet only 2/24 spiradenocarcinomas. Notably, we find a recurrent missense mutation in the kinase domain of the ALPK1 gene in spiradenomas and spiradenocarcinomas, which is mutually exclusive from mutation of CYLD and can activate the NF-κB pathway in reporter assays. In addition, we show that high-grade spiradenocarcinomas carry loss-of-function TP53 mutations, while cylindromas may have disruptive mutations in DNMT3A. Thus, we reveal the genomic landscape of adnexal tumors and therapeutic targets.


Assuntos
Carcinoma Adenoide Cístico/genética , Enzima Desubiquitinante CYLD/genética , Proteínas Quinases/genética , Neoplasias das Glândulas Sudoríparas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Adenoide Cístico/patologia , Estudos de Coortes , DNA (Citosina-5-)-Metiltransferases/genética , Análise Mutacional de DNA , Feminino , Humanos , Mutação com Perda de Função , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Domínios Proteicos/genética , Neoplasias das Glândulas Sudoríparas/patologia , Glândulas Sudoríparas/patologia , Proteína Supressora de Tumor p53/genética , Sequenciamento Completo do Exoma
6.
Am J Surg Pathol ; 43(8): 1092-1098, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31045890

RESUMO

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.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma/genética , Fusão Gênica , Fatores de Transcrição NFI/genética , Proteína Quinase C/genética , Neoplasias Cutâneas/genética , Translocação Genética , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Carcinoma/química , Carcinoma/patologia , Carcinoma/cirurgia , Bases de Dados Factuais , Feminino , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Prospectivos , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias Cutâneas/química , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia
7.
J Obstet Gynaecol Can ; 41(12): 1717-1725, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30981618

RESUMO

OBJECTIVE: The aim of this randomized controlled trial was to evaluate the safety and efficacy of neodymium: yttrium aluminum garnet laser treatment of lichen sclerosus (LS) by comparing it with topical corticosteroid treatment. METHODS: A total of 40 female patients with vulvar LS were randomized 1:1 into a study (laser) group and a control (topical corticosteroids) group. The laser group received three laser treatments. Blinded evaluators evaluated biopsies and graded improvement on clinical photographs at baseline and at 3 months. Patients graded the intensity of symptoms on a 0 to 10 visual analogue scale at baseline and 1-, 3-, and 6-month follow-up. Patients also rated the tolerability of laser treatments, and side effects were monitored. (Canadian Task Force classification I) RESULTS: Laser treatment discomfort was on average 1.5 of 10 on the visual analogue scale. At 1- and 3-month follow-up, patients in the laser group had significantly greater improvement in LS symptoms (burning, itching, pain, and dyspareunia), better patient satisfaction, and greater reduction of sclerosis than patients in the topical corticosteroid group. At 6-month follow-up, the improvement of symptoms in the laser group was still significant. The correct order of photographs (before and after treatment) was assigned significantly more often in the laser-treated patients compared with the control group. CONCLUSION: Laser therapy for LS caused minimal patient discomfort during the treatment, with no adverse effects, and demonstrated better efficacy than in the control group, with significant improvement lasting up to 6 months. Laser therapy is a promising option for patients not responding to topical corticosteroid therapy or patients wishing to reduce long-term corticosteroid maintenance use.

8.
Hautarzt ; 70(1): 44-46, 2019 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-29955917

RESUMO

Syringotropic mycosis fungoides (STMF) is an extremely rare form of cutaneous T­cell lymphoma with 51 published cases so far. Clinically STMF is manifested similarly to folliculotropic mycosis fungoides (MF), whereby the course of STMF is much milder. Histopathologically, it shows a prominent tropism of the T­cell lymphocytic infiltrate for the eccrine epithelium. We report the case of a 65-year-old woman with multiple small papules on the feet, shinbones and back.


Assuntos
Micose Fungoide , Neoplasias Cutâneas , Idoso , Dorso/patologia , Feminino , Pé/patologia , Humanos , Perna (Membro)/patologia , Micose Fungoide/diagnóstico , Micose Fungoide/fisiopatologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Linfócitos T/patologia
9.
Open Forum Infect Dis ; 5(11): ofy298, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30539041

RESUMO

Molluscum contagiosum (MC) manifests as small, umbilicated papules caused by the molluscum contagiosum virus (MCV). The extent of clinical misdiagnosis of MC is unknown. Combined clinical, histopathological, and virological evaluation of 203 consecutive patients with clinical diagnosis of MC treated at a university hospital during a 5-year period showed the correct clinical diagnosis in 188 of 203 (92.6%) patients. All 15 clinically misdiagnosed MC lesions were histopathologically and virologically confirmed as either common or anogenital warts caused by different human papillomaviruses. The MCV1/MCV2 subtypes ratio was 1.54:1, and the distribution of MCV subtypes differed across patients' age and anatomical location of lesions.

10.
Pathology ; 50(7): 711-717, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30314644

RESUMO

Glomus tumours (GTs) have traditionally been classified into benign GTs, GTs with uncertain malignant potential and malignant GTs, based on a combination of criteria such as size of the tumour, degree of nuclear atypia and the level of mitotic activity. Several of the proposed grading criteria are difficult, or even impossible to apply for GTs occurring in the skin. The aim of the study was to analyse the applicability of the currently established GT malignancy criteria for tumours occurring in the skin and to establish their prognostic significance. A total of 25 benign cutaneous GTs, 11 new cutaneous malignant GTs and 36 cutaneous malignant GTs previously published in the literature were studied. We analysed the following clinicopathological features and correlated them with disease outcome: age, sex, site, size, depth of invasion, degree of nuclear atypia, mitotic activity, growth pattern, vascular invasion, spindle-cell morphology and tumoural necrosis. Of all the clinicopathological parameters analysed, only tumoural necrosis was found by univariate analysis (p = 0.001) to be associated with adverse biological behaviour, and none by multivariate analysis. Multivariate statistical analysis failed to detect any clinicopathological features predictive of the disease outcome (e.g., local recurrence, development of metastatic spread and/or death of disease) in cutaneous malignant GTs. Furthermore, the currently established malignancy criteria for cutaneous GTs can be difficult to apply, mainly due to their smaller size. Likewise, counting mitotic activity per 50 high power fields can often not be accomplished in GTs occurring at superficial locations. Complete excision of these tumours coupled with long-term follow-up is the mainstay of treatment for cutaneous malignant GTs. The results of our study also suggest that cutaneous malignant GTs follow a more indolent clinical course than their deep soft tissue counterparts.


Assuntos
Tumor Glômico/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Feminino , Tumor Glômico/classificação , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/classificação , Adulto Jovem
11.
Microb Pathog ; 125: 26-32, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30195645

RESUMO

The significance of Helicobacter pylori (H. pylori) virulence genes such as cagA and vacA has been extensively studied in children; however, data regarding the significance of homA and homB genes are scarce. The aim of our study was to evaluate the prevalence and clinical relevance of these genes in Slovenian children. All children diagnosed with H. pylori infection between 1993 and 2013 were included in the study (n = 343). DNA was extracted from biopsy specimens previously used for the rapid urease test. Five histological parameters were evaluated and the presence of the vacA, cagA, iceA, babA2, and homA and homB genes was determined by PCR amplification. The homA and homB genes were detected in 174/285 (61.1%) and 116/285 (40.7%) strains, respectively. The presence of the homA gene was significantly associated with the absence of the homB gene (P < 0.001); however, no associations were found between the presence of either the homA or homB genes and any of the other investigated virulence genes. Similarly, there were no correlations between the presence of the homA and homB genes and any of the histological parameters. In contrast, genotype profiles vacA s1m1/cagA+/babA2+/homB+, vacA s1m2/cagA+/babA2+/homA+, vacA s1m1/cagA+/babA2+/homA+, vacA s1m1/cagA+/babA2-/homA+, vacA s1m2/cagA-/babA2-/homA+, and vacA s2m2/cagA-/babA2-/homB+ were associated with a higher degree of gastric mucosal damage. Thus, although the homA and homB genes did not represent important individual virulence markers in this population, they may act synergistically with other H. pylori virulence genes, causing severe gastritis in children.


Assuntos
Genes Bacterianos , Genótipo , Infecções por Helicobacter/microbiologia , Infecções por Helicobacter/patologia , Helicobacter pylori/genética , Fatores de Virulência/genética , Criança , Frequência do Gene , Helicobacter pylori/isolamento & purificação , Histocitoquímica , Humanos , Índice de Gravidade de Doença , Eslovênia
12.
Nutrition ; 47: 110-114, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29310849

RESUMO

Dietary supplements known as "fat burners" are typically marketed with claims of increasing energy expenditure through alterations in fat metabolism. They are marketed as natural products and their use is thus perceived as a safe body weight reduction strategy. We report on five episodes of liver injury in four patients. Liver injury was associated with consumption of different commercially available fat burners: Green tea extract (Camellia sinensis), Garcinia gummi-gutta, green coffee beans, and spirulina (blue-green algae). The patients were admitted to the Department of Gastroenterology and Hepatology at the University Medical Center Ljubljana, in Slovenia, from May 2010 to July 2015. The first patient developed acute liver failure and had to be treated by liver transplantation. Second patient developed acute hepatitis that resolved spontaneously. Another patient required multiple surgical procedures due to severe hemorrhage after liver biopsy. The last patient was treated for two separate episodes of fat burner-induced liver injury after ingesting two different products, in 2010 and 2015. Liver biopsy was performed in all patients and histopathologic examination revealed no other cause of liver injury. Viral, autoimmune, and metabolic liver diseases were excluded, making unsupervised consumption of fat burners the most likely causative agent.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas/etiologia , Suplementos Nutricionais/efeitos adversos , Hemorragia Gastrointestinal/induzido quimicamente , Hipolipemiantes/efeitos adversos , Falência Hepática Aguda/induzido quimicamente , Doença Aguda , Camellia sinensis , Café , Feminino , Garcinia , Humanos , Pessoa de Meia-Idade , Extratos Vegetais/efeitos adversos , Sementes , Spirulina
13.
Artigo em Inglês | MEDLINE | ID: mdl-28941264

RESUMO

Superficial epithelioma with sebaceous differentiation is the original name for a rare benign tumor that lacks consensus in the literature, both in nomenclature and in diagnostic criteria. We report the case of a 68-year-old male with a white papule on the left lower eyelid, fully excised. On histology, the lesion was a superficial, lobulated, plate-like epithelial proliferation, with small mature clusters of sebocytes and ductal structures. Mismatch repair proteins MLH-1, MSH-2, MSH-6, and PMS-2 were retained in the immunohistochemistry study. We reviewed the literature and added our case, which we believe contributes to better characterization of superficial epithelioma with sebaceous differentiation. It usually presents as a solitary papule or nodule on the face of middle-aged males. Histologically, besides the hallmark of a superficial plate-like epithelial proliferation, some variations are occasionally reported: the presence of randomly scattered keratin-filled cysts, squamous eddies, minimal peripheral palisading, marked verruciform architecture, and a reticulated pattern with elongated strands of keratinocytes. The mitotic activity can be high, but no cytological atypia or necrosis is seen. If properly removed, there is no evidence of local recurrence or distant spread. The association with Muir-Torre syndrome remains unclear.


Assuntos
Neoplasias das Glândulas Sebáceas/patologia , Glândulas Sebáceas/patologia , Neoplasias Cutâneas/patologia , Idoso , Humanos , Imuno-Histoquímica , Masculino
14.
Surg Pathol Clin ; 10(2): 337-343, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28477884

RESUMO

Cutaneous malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas of neuroectodermal origin arising in the dermis and/or subcutis. In contrast with their deep soft tissue and visceral counterparts, cutaneous MPNSTs are rarely associated with neurofibromatosis type 1. Two main subtypes of cutaneous MPNST can be distinguished histologically: conventional (ie, spindle cell) and epithelioid MPNST. The 2 subtypes also differ in predilection for deep versus superficial locations, association with preexistent benign peripheral nerve sheath tumors and S100 immunohistochemistry. Herein, we review current knowledge of cutaneous MPNST and discuss its differential diagnosis.


Assuntos
Neurilemoma/patologia , Neoplasias do Sistema Nervoso Periférico/patologia , Neoplasias Cutâneas/patologia , Humanos , Imuno-Histoquímica , Masculino , Neurilemoma/metabolismo , Neurofibromatose 1/patologia , Neoplasias do Sistema Nervoso Periférico/metabolismo , Proteínas S100/metabolismo , Sarcoma/metabolismo , Sarcoma/patologia , Neoplasias Cutâneas/metabolismo
15.
PLoS One ; 12(4): e0175892, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28426749

RESUMO

HPV204 is the only newly identified Mupapillomavirus (Mu-PV) type in more than a decade. To comprehensively characterize HPV204, we performed a detailed molecular analysis of the viral genome and evaluated its clinical relevance in comparison to the other Mu-PVs, HPV1 and HPV63. The 7,227-bp long genome of HPV204 exhibits typical genomic organization of Mu-PVs with eight open reading frames (ORFs) (E6, E7, E1, E2, E8, E4, L2, and L1). We developed three type-specific quantitative real-time PCRs and used them to test a representative collection (n = 1,006) of various HPV-associated benign and malignant neoplasms, as well as samples of clinically normal cutaneous, mucosal, and mucocutaneous origins. HPV204, HPV1, and HPV63 were detected in 1.1%, 2.7%, and 1.9% of samples tested, respectively, and were present in skin and mucosa, suggesting dual tissue tropism of all Mu-PVs. To evaluate the etiological role of Mu-PVs in the development of HPV-associated neoplasms, Mu-PV viral loads per single cell were estimated. HPV1 and HPV63 were present in high viral copy numbers in 3/43 and 1/43 cutaneous warts, respectively, and were identified as the most likely causative agents of these warts. HPV204 viral load was extremely low in a single HPV204-positive cutaneous wart (7.4 × 10-7 viral copies/cell). Hence, etiological association between HPV204 and the development of cutaneous warts could not be established. To the best of our knowledge, this is the first study to evaluate the genetic variability of Mu-PVs by sequencing complete LCR genomic regions of HPV204, HPV1, and HPV63. We detected several nucleotide substitutions and deletions within the LCR genomic regions of Mu-PVs and identified two genetic variants of HPV204 and HPV63 and five genetic variants of HPV1.


Assuntos
Genes Virais , Mupapillomavirus/genética , Mupapillomavirus/fisiologia , Filogenia , Tropismo Viral , Humanos , Mupapillomavirus/classificação , Fases de Leitura Aberta , Reação em Cadeia da Polimerase em Tempo Real
16.
Am J Dermatopathol ; 38(11): 824-831, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27043339

RESUMO

We report 2 cases of primary dermal osteosarcoma. The patients were an 88-year-old man and a 72-year-old man complaining of masses occurring in the ear pavilion and the palm, deemed suspicious for basal cell carcinoma and metastatic colonic carcinoma, and were treated by resection. Microscopically, both featured a dermal lesion mostly composed of atypical spindle cells within a fibrous to hyaline matrix often showing mineralization. Osteoid material was rimmed by atypical tumor cells and was also associated with osteoclast-like giant cells. Tumor cells were positive for SATB2 and negative for markers of epithelial (low-molecular and high-molecular weight cytokeratins, epithelial membrane antigen, p63), melanocytic (S100 protein, HMB45, Melan A), and skeletal/smooth muscle differentiation (desmin, myogenin). No further therapy has been administered. Follow-up at 6 (case 1) and 8 months (case 2) was uneventful. A brief differential diagnosis discussing cutaneous tumors capable of showing osseous differentiation is summarized, along with a review of the pertinent literature. The specificity and sensitivity of SATB2 is also shortly addressed.


Assuntos
Biomarcadores Tumorais/análise , Imuno-Histoquímica , Proteínas de Ligação à Região de Interação com a Matriz/análise , Osteoblastos/química , Osteossarcoma/química , Neoplasias Cutâneas/química , Fatores de Transcrição/análise , Idoso , Idoso de 80 Anos ou mais , Biópsia , Humanos , Masculino , Osteoblastos/patologia , Osteossarcoma/patologia , Osteossarcoma/cirurgia , Valor Preditivo dos Testes , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Resultado do Tratamento
17.
Histopathology ; 68(2): 286-96, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26096054

RESUMO

AIMS: Epithelioid malignant peripheral nerve sheath tumour (E-MPNST) is a distinctive variant of malignant peripheral nerve sheath tumour characterized by the predominance of epithelioid cells, diffuse S100 positivity and infrequent association with neurofibromatosis type 1. The aim of this study was to further delineate clinicopathological features of cutaneous E-MPNST, correlate them with disease outcome and discuss differential diagnosis. METHODS AND RESULTS: We analysed 11 cutaneous E-MPNSTs (six males, five females, median age 49 years, median size 1.6 cm). Tumours showed a predilection for lower extremities (45%) and trunk (45%), followed by upper extremity (9%). Follow-up was available for nine of 11 patients (range 24-100 months, median 52 months). Four patients had an uneventful clinical course (44%), two developed local recurrence(s) (22%) and three died due to disseminated disease (33%). No histological parameters were found to predict local recurrence(s), development of distant metastases or disease outcome, including size, percentage of epithelioid component, number of mitoses per 10 high-power fields, degree of nuclear atypia or site of occurrence (dermis, dermis/subcutis, subcutis) (P > 0.05). Immunohistochemically, all tumours were diffusely S100-positive, with a subset displaying loss of integrase interactor 1 (INI1) expression (50%). CONCLUSIONS: Cutaneous E-MPNST has the potential to pursue an aggressive clinical course, associated with wide dissemination and unfavourable disease outcome.


Assuntos
Biomarcadores Tumorais/metabolismo , Neurilemoma/diagnóstico , Neurofibromatose 1/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Diagnóstico Diferencial , Células Epitelioides/metabolismo , Células Epitelioides/patologia , Evolução Fatal , Feminino , Seguimentos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Recidiva Local de Neoplasia , Neurilemoma/metabolismo , Neurilemoma/patologia , Neurofibromatose 1/metabolismo , Neurofibromatose 1/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Análise de Sobrevida
18.
J Cutan Pathol ; 43(2): 93-100, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26350054

RESUMO

BACKGROUND: Microcystic/ reticular schwannoma is exceptionally rare yet distinctive morphological variant of schwannoma with predilection for visceral sites lacking association with neurofibromatosis. AIMS: To further delineate clinicopathological features of cutaneous microcystic/reticular schwannoma and to discuss its differential diagnosis. RESULTS: We analyzed three cutaneous microcystic/reticular schwannomas, occurring in two males and one female (mean age: 37.6 years). The tumors presented as a non-painful slightly raised papule (mean: 0.7 cm) on upper arm (n = 2) and back (n = 1). No recurrences were observed despite marginal excision (mean follow up: 42 months). Histopathologically, a multilobular proliferation was present in the dermis composed of bland tumor cells forming distinctive microcystic, reticular, lace-like or pseudoglandular structures, containing abundant myxoid/mucinous material. By immunohistochemistry, tumor cells lining microcystic structures corresponded to Schwann cells (diffuse S100 positive, variable GFAP positivity). A discontinuous EMA-positive perineurium was present at the periphery of some of the lobules. CONCLUSION: Cutaneous microcystic/reticular schwannoma expands the spectrum of benign peripheral nerve sheath tumors with reticular morphology encountered in the skin. Other tumors in this group include reticular perineurioma and hybrid tumors with reticular morphology, e.g. reticular perineurioma/schwannoma and reticular perineurioma/neurofibroma.


Assuntos
Neurilemoma/patologia , Neoplasias Cutâneas/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurilemoma/metabolismo , Neoplasias Cutâneas/metabolismo
19.
Pediatr Rheumatol Online J ; 13(1): 47, 2015 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-26554821

RESUMO

BACKGROUND: Liver disease is rare in the course of mixed connective tissue disease. Most commonly liver steatosis or elevated liver function tests are reported and only a few cases of mixed connective tissue disease associated with autoimmune hepatitis were described. CASE PRESENTATION: We report a case of an 11-year old boy with hepatitis on admission to the hospital and symptoms and signs of mixed connective tissue disease. Autoimmune hepatitis has been confirmed by liver biopsy. CONCLUSION: To the best of our knowledge this is the youngest patient with autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease.


Assuntos
Hepatite Autoimune/diagnóstico , Doença Mista do Tecido Conjuntivo/diagnóstico , Biópsia , Criança , Hepatite Autoimune/patologia , Humanos , Fígado/patologia , Masculino
20.
J Cutan Pathol ; 42(11): 878-83, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26260952

RESUMO

BACKGROUND: Cutaneous intraneural reactive epithelial proliferations mimicking malignancy include epithelial sheath neuroma, re-excision perineural invasion and reactive neuroepithelial aggregates. Nevertheless, intraneural growth of benign sweat gland tumors has not been reported before. AIMS: To report a predominantly intraneural proliferation of morphologically bland sweat gland tumors, describe their clinicopathological features and correlate them with survival. RESULTS: We analyzed a spiradenoma and a hidradenoma with a prominent intraneural growth, occurring on the back of the 19-year-old woman and on the arm of the 53-year-old woman. Both lesions presented as a painful and slightly raised papule. After complete excision, an uneventful clinical course was observed during the follow-up period of 52 and 54 months. Pathologically, the most striking feature was an almost exclusive intraneural growth within the peripheral nerves of the deep dermis and subcutis. CONCLUSION: We report for the first time the predominantly intraneural growth of benign sweat gland tumors. Although their histogenesis is unknown, perineural displacement due to previous surgery or trauma, as well as development from intraneural embryological epithelial remnants remains possibilities. Long-term follow-up of our patients suggests that intraneural growth of otherwise bland sweat gland tumors does not signify malignancy. Complete excision appears to be sufficient treatment procedure.


Assuntos
Acrospiroma/patologia , Adenoma de Glândula Sudorípara/patologia , Neuroma/patologia , Nervos Periféricos/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Acrospiroma/metabolismo , Adenoma de Glândula Sudorípara/metabolismo , Adulto , Antígeno Carcinoembrionário/metabolismo , Feminino , Humanos , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Neuroma/metabolismo , Nervos Periféricos/metabolismo , Proteínas S100/metabolismo , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/metabolismo
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