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1.
Mod Pathol ; 34(1): 116-130, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32728225

RESUMO

Despite a growing incidence in developed countries and a recent improved understanding of its pathogenesis, anal cancer management has not evolved over the past decades and drug combination used as first-line regimen still largely depends on clinician preferences. Aiming at paving the way for precision medicine, a large cohort of 372 HIV-negative patients diagnosed over a 20-year time period with locally advanced anal carcinoma was collected and carefully characterized at the clinical, demographic, histopathologic, immunologic, and virologic levels. Both the prognostic relevance of each clinicopathological parameter and the efficacy of different concurrent chemoradiation strategies were determined. Overall, the incidence of anal cancer peaked during the sixth decade (mean: 63.4) and females outnumbered males (ratio: 2.51). After completion of treatment, 95 (25.5%) patients experienced progression of persistent disease or local/distant recurrence and 102 (27.4%) died during the follow-up period (median: 53.8 months). Importantly, uni-multivariate analyses indicated that both negative HPV/p16ink4a status and aberrant p53 expression were far better predictors for reduced progression-free survival than traditional risk factors such as tumor size and nodal status. As for overall survival, the significant influences of age at diagnosis, p16ink4a status, cTNM classification as well as both CD3+ and CD4+ T-cell infiltrations within tumor microenvironment were highlighted. Cisplatin-based chemoradiotherapy was superior to both radiotherapy alone and other concurrent chemoradiation therapies in the treatment of HPV-positive tumors. Regarding their HPV-uninfected counterparts, frequent relapses were observed, whatever the treatment regimen administered. Taken together, our findings reveal that current anal cancer management and treatment have reached their limits. A dualistic classification according to HPV/p53 status should be considered with implications for therapy personalization and optimization.


Assuntos
Algoritmos , Neoplasias do Ânus/patologia , Neoplasias do Ânus/terapia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/terapia , Adulto , Idoso , Neoplasias do Ânus/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prognóstico , Intervalo Livre de Progressão , Resultado do Tratamento
2.
Ann Pathol ; 39(1): 18-23, 2019 Feb.
Artigo em Francês | MEDLINE | ID: mdl-30554834

RESUMO

Drug-induced crystalline nephropathies are secondary to abnormal accumulation of crystals leading to parenchymal renal injuries. Methotrexate, used to treat a wide range of malignancies, is one of the various drugs accountable in this particular condition. We report a case of acute renal injury during the course of high-dose methotrexate therapy in a patient presenting primary cerebral diffuse large B-cell lymphoma. Interestingly, the kidney biopsy revealed intratubular methotrexate crystal formations. We also summarize the distinctive characteristics of main crystalline nephropathies in order to guide pathologists toward the many types of crystals encountered on renal biopsy.


Assuntos
Injúria Renal Aguda/induzido quimicamente , Antimetabólitos Antineoplásicos/efeitos adversos , Metotrexato/efeitos adversos , Injúria Renal Aguda/patologia , Idoso , Biópsia , Cristalização , Humanos , Rim/patologia , Masculino
4.
Arch Pathol Lab Med ; 141(8): 1127-1131, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28745569

RESUMO

Fabry disease is a rare X-linked recessive lysosomal storage disease. Multiple mutations of the GLA gene lead to a deficient or absent activity of the lysosomal enzyme α-galactosidase A, resulting in progressive glycotriaosylceramide accumulation in many organs. Low α-galactosidase A activity and mutations in the GLA gene confirm the diagnosis. Clinical signs are multisystemic, heterogeneous, and progressive. Renal, cardiac, and neurovascular involvements are the main life-threatening complications, highlighting the importance of an early initiation of enzyme replacement therapy improving long-term outcome. Fabry nephropathy lesions are characterized by a cell vacuolization of glomeruli, tubules, interstitium, and arteries and by ultrastructural myelin bodies. The main histologic differential diagnoses are toxicity of lysosomal inhibitors and other renal lipidoses. Renal biopsies are not necessary for diagnosis but have an important role in the evaluation of disease evolution and treatment efficiency, which is a major challenge for improving outcome and quality of life.


Assuntos
Doença de Fabry/complicações , Nefropatias/etiologia , Humanos
5.
Oncol Rep ; 37(3): 1573-1578, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28184945

RESUMO

Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene. There is no known Ashkenazi Jewish ancestry. We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Predisposição Genética para Doença , Mutação/genética , Neoplasias da Mama/patologia , Feminino , Triagem de Portadores Genéticos , Humanos , Pessoa de Meia-Idade , Linhagem , Prognóstico
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