RESUMO
Disseminated histoplasmosis is a fungal infection caused by Histoplasma capsulatum. It often involves immunodeficient patients and can occur in two forms, i.e., the large- and small-celled variants. The purpose of this report is to describe a case of disseminated histoplasmosis with cutaneous and digestive involvement observed four years after kidney transplantation in a man from Senegal. The patient developed severe sepsis secondary to colonic perforation. Outcome was fatal due to delayed diagnosis and extent of disease.
Assuntos
Doenças do Ceco/etiologia , Histoplasmose/diagnóstico , Perfuração Intestinal/etiologia , Transplante de Rim , Humanos , Hospedeiro Imunocomprometido , Imunossupressores/uso terapêutico , MasculinoRESUMO
BACKGROUND: Despite recent advances, non-small cell lung cancer carries a grim prognosis. For appropriate treatment selection, the updated guidelines recommend broad molecular profiling for all patients with pulmonary adenocarcinoma. Precise histological subtyping and targeted epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) testing are mandatory. METHODS: Herein, we assessed the EGFR mutation status of 26 formalin fixed-paraffin embedded (FFPE) samples of lung adenocarcinoma. Mutational analysis concerned exons 18-21 of EGFR by real-time polymerase chain reaction (Real time-PCR) using the Therascreen EGFR RGQ PCR mutation kit. ALK status was established on 22 among 26 patients using D5F3 antibody with a fully automated Ventana CDx technique. RESULTS: Activating EGFR mutations were found in 3 men among 26 patients (11.5%). Positive ALK expression was found in 2 cases among 22 patients (9.09%). CONCLUSION: Frequency of EGFR mutations in pulmonary adenocarcinomas of our series is similar to that found in the European ones with some particularities. The mutations detected are uncommon. Whereas, we found a high frequency of positive ALK expression in our series compared to frequency reported in literature. Further studies with larger Tunisian series are required to obtain more conclusive results.
Assuntos
Adenocarcinoma de Pulmão/genética , Neoplasias Pulmonares/genética , Mutação , Adenocarcinoma de Pulmão/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Quinase do Linfoma Anaplásico/genética , Estudos de Coortes , Análise Mutacional de DNA/métodos , Receptores ErbB/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Neoplasias Pulmonares/epidemiologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real , Tunísia/epidemiologiaRESUMO
Desmoplastic small round cell tumor (DSRCT) is a rare clinicopathological entity individualized in 1989. Its etiopathogenesis is still unknown, and diagnosis can be achieved only by immunohistochemistry and cytogenetic studies. The objective of this work is to report two new cases of DSRCT and to review the literature to clarify its epidemiological, clinical and pathological aspects.
Assuntos
Neoplasias Abdominais/patologia , Adolescente , Adulto , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Primary squamous cell carcinoma of the endometrium is exceedingly rare. It has been described in association with pyometra but its etiology is still unclear. CASE: The authors report the case of a 75-year-old woman who presented with pelvic pain and pyometra. No gross tumor was identified in the uterus; however, extensive epidermalization of the endometrial mucosa was noted. Microscopic findings were consistent with a primary in situ squamous carcinoma of the endometrium associated with extensive squamous metaplasia and areas of dysplasia. HPV antigen and DNA detection were negative in both the endometrial lesions and the cervix. CONCLUSIONS: These results support the sequence of change with squamous metaplasia, progressing through dysplasia to carcinoma as a possible pathogenetic process. HPV's role, however, remains uncertain.