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1.
ScientificWorldJournal ; 2014: 462634, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25177726

RESUMEN

In the dermatopathology field, some simple available laboratory tests require minimum equipment for establishing a diagnosis. Among them, the cyanoacrylate skin surface stripping (CSSS), formerly named skin surface biopsy or follicular biopsy, represents a convenient low cost procedure. It is a minimally invasive method collecting a continuous sheet of stratum corneum and horny follicular casts. In the vast majority of cases, it is painless and is unassociated with adverse events. CSSS can be performed in subjects of any age. The method has a number of applications in diagnostic dermatopathology and cosmetology, as well as in experimental dermatology settings. A series of derived analytic procedures include xerosis grading, comedometry, corneofungimetry, corneodynamics of stratum corneum renewal, corneomelametry, corneosurfametry, and corneoxenometry.


Asunto(s)
Quimioexfoliación/métodos , Cianoacrilatos , Fármacos Dermatológicos , Dermatología/métodos , Enfermedades de la Piel/patología , Medicina Tropical/métodos , Cianoacrilatos/uso terapéutico , Fármacos Dermatológicos/uso terapéutico , Humanos , Piel/efectos de los fármacos , Piel/patología , Enfermedades de la Piel/terapia
2.
Front Oncol ; 12: 835581, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35280729

RESUMEN

Objective: The link between BRCA1 and homologous recombination deficiency (HRD) in cancer has gained importance with the emergence of new targeted cancer treatments, while the available data on the role of the gene in colorectal cancer (CRC) remain contradictory. The aim of this case series was to elucidate the role of known pathogenic BRCA1 variants in the development of early-onset CRC. Design: Patients were evaluated using targeted next generation sequencing, exome sequencing and chromosomal microarray analysis of the paired germline and tumor samples. These results were used to calculate the HRD score and the frequency of mutational signatures in the tumors. Results: Three patients with metastatic CRC were heterozygous for a previously known BRCA1 nonsense variant. All tumors showed remarkably high HRD scores, and the HRD-related signature 3 had the second highest contribution to the somatic pattern of variant accumulation in the samples (23% in 1 and 2, and 13% in sample 3). Conclusions: A BRCA1 germline pathogenic variant can be involved in CRC development through HRD. Thus, BRCA1 testing should be considered in young patients with a personal history of microsatellite stable CRC as this could further allow a personalized treatment approach.

3.
Clin Cancer Res ; 25(6): 1838-1850, 2019 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-30504427

RESUMEN

PURPOSE: Here, we investigated the clinical relevance of an unprecedented combination of three biomarkers in triple-negative breast cancer (TNBC), both in human samples and in patient-derived xenografts of TNBC (PDX-TNBC): EGFR, its recently identified partner (MT4-MMP), and retinoblastoma protein (RB).Experimental Design: IHC analyses were conducted on human and PDX-TNBC samples to evaluate the production of the three biomarkers. The sensitivity of cancer cells expressing or not MT4-MMP to anti-EGFR (erlotinib) or anti-CDK4/6 inhibitor (palbociclib) was evaluated in vitro in 2D and 3D proliferation assays and in vivo using xenografts and PDX-TNBC displaying different RB, MT4-MMP, and EGFR status after single (erlotinib or palbociclib) or combined (erlotinib + palbociclib) treatments. RESULTS: EGFR and MT4-MMP were coexpressed in >70% of TNBC samples and PDX-TNBC, among which approximately 60% maintained RB expression. Notably, approximately 50% of all TNBC and PDX-TNBC expressed the three biomarkers. Single erlotinib and palbociclib treatments drastically reduced the in vitro proliferation of cells expressing EGFR and MT4-MMP when compared with control cells. Both TNBC xenografts and PDX expressing MT4-MMP, EGFR, and RB, but not PDX-TNBC with RB loss, were sensitive to erlotinib and palbociclib with an additive effect of combination therapy. Moreover, this combination was efficient in another PDX-TNBC expressing the three biomarkers and resistant to erlotinib alone. CONCLUSIONS: We defined a new association of three biomarkers (MT4-MMP/EGFR/RB) expressed together in 50% of TNBC and demonstrated its usefulness to predict the TNBC response to anti-EGFR and anti-CDK4/6 drugs used in single or combined therapy.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/farmacología , Biomarcadores de Tumor/metabolismo , Metaloproteinasas de la Matriz Asociadas a la Membrana/metabolismo , Proteínas de Unión a Retinoblastoma/metabolismo , Neoplasias de la Mama Triple Negativas/tratamiento farmacológico , Ubiquitina-Proteína Ligasas/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Animales , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biomarcadores de Tumor/análisis , Células COS , Línea Celular Tumoral , Chlorocebus aethiops , Resistencia a Antineoplásicos/genética , Receptores ErbB/análisis , Receptores ErbB/antagonistas & inhibidores , Receptores ErbB/metabolismo , Clorhidrato de Erlotinib/farmacología , Clorhidrato de Erlotinib/uso terapéutico , Estudios de Factibilidad , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Inmunohistoquímica , Metaloproteinasas de la Matriz Asociadas a la Membrana/análisis , Ratones , Persona de Mediana Edad , Piperazinas/farmacología , Piperazinas/uso terapéutico , Pronóstico , Piridinas/farmacología , Piridinas/uso terapéutico , Proteínas de Unión a Retinoblastoma/análisis , Neoplasias de la Mama Triple Negativas/genética , Neoplasias de la Mama Triple Negativas/patología , Ubiquitina-Proteína Ligasas/análisis , Ensayos Antitumor por Modelo de Xenoinjerto
4.
Acta Clin Belg ; 73(5): 356-363, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28954600

RESUMEN

Case report We report the case of a young Cameroonian woman who presented with cough, hyperthermia, weight loss, pancytopenia, and hepatosplenomegaly. A positive HIV serology was discovered and a chest radiography revealed a 'miliary pattern'. Bone marrow aspiration pointed out yeast inclusions within macrophages. Given the morphological aspect, the clinical presentation and immunosuppression, histoplasmosis was retained as a working hypothesis. Antiretroviral and amphotericin B treatments were promptly initiated. Review Given the immigration wave that Europe is currently experiencing, we think it is important to share experience and knowledge, especially in non-endemic areas such as Europe, where clinicians are not used to face this disease. Histoplasmosis is due to Histoplasma capsulatum var. capsulatum, a dimorphic fungus. Infection occurs by inhaling spores contained in soils contaminated by bat or bird droppings. The clinical presentation depends on the immune status of the host and the importance of inoculum, varying from asymptomatic to disseminated forms. AIDS patients are particularly susceptible to develop a severe disease. Antigen detection, molecular biology techniques, and microscopic examination are used to make a rapid diagnosis. However, antigen detection is not available in Europe and diagnosis needs a strong clinical suspicion in non-endemic areas. Because of suggestive imagery, clinicians might focus on tuberculosis. Our case illustrates the need for clinicians to take histoplasmosis in the differential diagnosis, depending on the context and the patient's past history.


Asunto(s)
Infecciones Oportunistas Relacionadas con el SIDA , Histoplasmosis , Adulto , Anfotericina B/administración & dosificación , Anfotericina B/uso terapéutico , Antirretrovirales/administración & dosificación , Antirretrovirales/uso terapéutico , Antifúngicos/administración & dosificación , Antifúngicos/uso terapéutico , Células de la Médula Ósea/microbiología , Células de la Médula Ósea/patología , Femenino , Infecciones por VIH/diagnóstico , Infecciones por VIH/tratamiento farmacológico , Histoplasma , Humanos , Pancitopenia
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