RESUMEN
A total of three cases with novel constellations regarding mutation patterns in non-small-cell lung cancer (NSCLC) are reported. The mutation patterns that are observed are novel and unexpected. First, a combined simultaneous KRAS mutation and EML4-ALK translocation, both in the main tumor and a bone metastasis, were observed, these mutations are assumed to mutually exclude each other. A further two cases include a father and a daughter, both of whom are suffering from NSCLC with different EGFR mutation patterns. A common cause was assumed; however, could not be deduced to mutations in the KRAS, BRAF and EGFR genes. The aforementioned cases are important, as it must be taken into account that mutations previously assumed to be exclusive can occur in combination, may influence the clinical outcome and may require different therapy compared with single mutated tumors. It has to be discussed whether diagnostic algorithms need to be adapted. The cases of father and daughter show that further unknown factors can influence development of NSCLC.
Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/genética , Receptores ErbB/genética , Neoplasias Pulmonares/genética , Proteínas de Fusión Oncogénica/genética , Proteínas Proto-Oncogénicas/genética , Proteínas ras/genética , Adulto , Anciano , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Carcinoma de Pulmón de Células no Pequeñas/terapia , Resultado Fatal , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/terapia , Masculino , Persona de Mediana Edad , Proteínas Proto-Oncogénicas p21(ras) , Translocación Genética , Resultado del TratamientoRESUMEN
Non-pneumonia Pneumocystis jirovecii colonization is thought to occur frequently in immunocompetent individuals. The aim was to analyze if P. jirovecii low-titer detections have more impact than just colonization. From our total cohort of patients for which P. jirovecii testing by qPCR was requested, we selected exclusively those that were fully immunocompetent. Patients were defined as fully immunocompetent if they did not receive immunosuppressive therapy, displayed regular antibody titers, and did not suffer from acquired, inherited or autoimmune diseases. Only those patients with complete medical records available were included. A retrospective analysis identified patients with P. jirovecii colonization and successful antibiotic therapy in response to laboratory pathogen detection. We identified 30 fully immunocompetent patients with P. jirovecii colonization suspected to suffer from infection with the pathogen, but with milder symptoms than pneumonia. All patients were successfully treated with cotrimoxazole against P. jirovecii and resolved from chronic cough and recurrent pulmonary infections. The fact that all patients displayed recovery from their clinical symptoms gives raise to the hypothesis that P. jirovecii infections may also occur in immunocompetent patients but with milder symptoms.