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1.
J Cutan Pathol ; 51(9): 714-723, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39091243

RESUMO

BACKGROUND: Nail squamous cell carcinoma (NSCC) is the most frequent ungual malignant tumor, but its incidence remains low. The histopathological description is sparse. We aim to characterize NSCC histopathological aspects, search for a correlation with clinical subtypes, and investigate immunohistochemistry expression of p16, p53, and Ki67. METHODS: This retrospective study collected NSCC diagnosed in our dermatology department between 2007 and 2021. The histopathological features were correlated with the clinical signs and immunohistochemistry. RESULTS: A total of 48 patients were included, and immunohistochemistry was available for 36 of them. Two histopathological patterns became prominent: a blue-basaloid type characterized by koilocytosis (p < 0.001), and a pink-keratinizing type. Mean ages were similar when comparing basaloid and periungual versus keratinizing and subungual (p < 0.001). p16 was positive in 31 of 36 cases: 18 basaloid and 13 keratinizing (p = 0.167). p53 and Ki67 were all abnormal. CONCLUSIONS: Our study described two histopathological NSCC subtypes and associated them with the two clinical subtypes: the blue-basaloid type, HPV-induced, in situ, of periungual localization in younger males; and the pink-keratinizing type, non-HPV-induced, invasive, of subungual site, in elderly. Immunohistochemistry was not contributing on its own, but p16 positivity associated with basaloid histopathological profile helps support HPV etiology.


Assuntos
Carcinoma de Células Escamosas , Imuno-Histoquímica , Antígeno Ki-67 , Doenças da Unha , Neoplasias Cutâneas , Humanos , Masculino , Feminino , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/metabolismo , Pessoa de Meia-Idade , Estudos Retrospectivos , Imuno-Histoquímica/métodos , Idoso , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/metabolismo , Doenças da Unha/patologia , Doenças da Unha/metabolismo , Adulto , Idoso de 80 Anos ou mais , Antígeno Ki-67/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Unhas/patologia , Unhas/metabolismo , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/análise
2.
Mod Pathol ; 34(11): 2009-2019, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34155350

RESUMO

Dedifferentiation and transdifferentiation are rare and only poorly understood phenomena in cutaneous melanoma. To study this disease more comprehensively we have retrieved 11 primary cutaneous melanomas from our pathology archives showing biphasic features characterized by a conventional melanoma and additional areas of de-/trans-differentiation as defined by a lack of immunohistochemical expression of all conventional melanocytic markers (S-100 protein, SOX10, Melan-A, and HMB-45). The clinical, histologic, and immunohistochemical findings were recorded and follow-up was obtained. The patients were mostly elderly (median: 81 years; range: 42-86 years) without significant gender predilection, and the sun-exposed skin of the head and neck area was most commonly affected. The tumors were deeply invasive with a mean depth of 7 mm (range: 4-80 mm). The dedifferentiated component showed atypical fibroxanthoma-like features in the majority of cases (7), while additional rhabdomyosarcomatous and epithelial transdifferentiation was noted histologically and/or immunohistochemically in two tumors each. The background conventional melanoma component was of desmoplastic (4), superficial spreading (3), nodular (2), lentigo maligna (1), or spindle cell (1) types. For the seven patients with available follow-up data (median follow-up period of 25 months; range: 8-36 months), two died from their disease, and three developed metastases. Next-generation sequencing of the cohort revealed somatic mutations of established melanoma drivers including mainly NF1 mutations (5) in the conventional component, which was also detected in the corresponding de-/trans-differentiated component. In summary, the diagnosis of primary cutaneous de-/trans-differentiated melanoma is challenging and depends on the morphologic identification of conventional melanoma. Molecular analysis is diagnostically helpful as the mutated gene profile is shared between the conventional and de-/trans-differentiated components. Importantly, de-/trans-differentiation does not appear to confer a more aggressive behavior.


Assuntos
Genômica , Melanoma/patologia , Neurofibromina 1/genética , Neoplasias Cutâneas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Diferenciação Celular , DNA de Neoplasias/genética , Diagnóstico Diferencial , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Melanoma/genética , Melanoma/metabolismo , Pessoa de Meia-Idade , Proteínas de Neoplasias/metabolismo , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismo
3.
J Cutan Pathol ; 48(1): 128-132, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32918316

RESUMO

Adenomatoid tumors are benign tumors of mesothelial origin that are usually encountered in the genital tract. Although they have been observed in other organs, the skin appears to be a very rare location, with only one case reported in the literature to our knowledge. We report a second case of an adenomatoid tumor, arising in the umbilicus of a 44-year-old woman. The patient presented with an 8-month-old erythematous and firm plaque under the umbilicus. A skin biopsy showed numerous microcystic spaces dissecting a fibrous stroma and lined by flattened to cuboidal cells with focal intraluminal papillary formation. This little-known diagnosis constitutes a diagnostic pitfall for dermatopathologists and dermatologists, and could be misdiagnosed as other benign or malignant entities. Through this case report, a practical approach and diagnostic keys have been devised to avoid misdiagnosis and overtreatment.


Assuntos
Tumor Adenomatoide/diagnóstico , Tumor Adenomatoide/patologia , Neoplasias Cutâneas/patologia , Umbigo/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Cutâneas/diagnóstico
4.
J Cutan Pathol ; 48(3): 384-389, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33051901

RESUMO

Spiradenocarcinoma (SC) is a very rare malignant skin adnexal tumor with sweat gland differentiation that develops from a pre-existing spiradenoma, cylindroma, or hybrid tumor called spiradenocylindroma, or arises de novo. We present two exceptionally rare SC cases showing sarcomatous differentiation; we also discuss the clinicopathologic features of SC, as well as its differential diagnoses and available therapeutic modalities. Given the aggressive behavior of SC, rapid diagnosis and complete removal of the tumor with tumor-free margins is mandatory. Owing to the marked morphological heterogeneity of individual SC cases, dermatopathologists must be familiar with the different possible histopathologic manifestations of this neoplasm.


Assuntos
Adenocarcinoma/diagnóstico , Metaplasia/patologia , Sarcoma/patologia , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Acrospiroma/complicações , Acrospiroma/patologia , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Adulto , Idoso , Carcinoma Adenoide Cístico/complicações , Carcinoma Adenoide Cístico/patologia , Diferenciação Celular , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica/métodos , Perda de Seguimento , Margens de Excisão , Sarcoma/diagnóstico , Neoplasias Cutâneas/cirurgia , Coloração e Rotulagem/métodos , Neoplasias das Glândulas Sudoríparas/cirurgia
7.
Ann Pathol ; 35(1): 114-25, 2015 Jan.
Artigo em Francês | MEDLINE | ID: mdl-25541116

RESUMO

Connective tissue tumors located inside the abdomen are a rare heterogeneous group of tumors, except for gastro-intestinal stromal tumors. They may be benign, malignant, or intermediate in terms of biologic potential. Pathologists have to remember the list of all the lesions possibly involved, with their immunohistochemical characteristics, and to know which molecular analyses are needed, with which expected results, and by which team they can be performed. The main tumor types are discussed with diagnostic tools and treatment consequences.


Assuntos
Neoplasias Abdominais/diagnóstico , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Técnicas de Diagnóstico Molecular , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias Abdominais/química , Neoplasias Abdominais/genética , Neoplasias Abdominais/patologia , Biomarcadores Tumorais/análise , Neoplasias Gastrointestinais/química , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/genética , Neoplasias Gastrointestinais/patologia , Humanos , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/genética , Neoplasias de Tecido Conjuntivo/química , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/genética , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia
9.
EJNMMI Res ; 14(1): 47, 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38753288

RESUMO

BACKGROUND: Indocyanine green (ICG)-guided surgery has proven effective in the identification of neoplastic tissues. The effect of radiation therapy (RT) on lymph node fluorescence after intravenous injection of ICG has not been addressed yet. The objective of this study was to evaluate the influence of RT on node fluorescence during neck dissection in head and neck squamous cell carcinoma (HNSCC). RESULTS: Twenty-four patients with planned neck dissection for HNSCC were prospectively enrolled. Eleven were included without previous radiation therapy and 13 after RT. ICG was intravenously administered in the operating room. The resected specimen was analyzed by the pathology department to determine the status of each resected lymph node (invaded or not). The fluorescence of each resected node was measured in arbitrary units (AU) on paraffin blocs. The surface area (mm2) of all metastatic nodes and of the invaded component were measured. The values of these surface areas were correlated to fluorescence values. A total of 707 nodes were harvested, the mean fluorescence of irradiated nodes (n = 253) was 9.2 AU and of non-irradiated nodes (n = 454) was 9.6 AU (p = 0.63). Fifty nodes were invaded, with a mean fluorescence of 22 AU. The mean fluorescence values in the invaded irradiated nodes (n = 20) and the invaded non-irradiated nodes (n = 30) were 19 AU and 28 AU (p = 0.23), respectively. The surface area of metastatic nodes and of the invaded component were correlated to fluorescence values even after previous RT (p = 0.02). CONCLUSION: No differences were observed between the fluorescence of irradiated and non-irradiated lymph nodes, including invaded nodes. ICG-guided surgery can be performed after failed RT. TRIAL REGISTRATION: EudraCT ref. 2013-004498-29, registered 29 November 2013. https://www.clinicaltrialsregister.eu/ctr-search/search?query=2013-004498-29.

10.
Cureus ; 15(6): e40400, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37456419

RESUMO

Gout is a common disease, and its prevalence is increasing. After several years of untreated gout, in very rare cases tophi may cause a spontaneous fracture. This type of fracture may be difficult to distinguish from others, especially when gout is not yet diagnosed. We present a case of a pathological fracture caused by tophus in a young man, which led to the diagnosis of gout.

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