Mutations in the mismatch repair (MMR) system predict the response to immune checkpoint inhibitors (ICIs) like colon or gastric cancer. However, the MMR system’s involvement in non-small cell lung cancer (NSCLC) remains unknown. Addressing this issue will improve clinical guidelines in the case of mutations in the main genes of the MMR system (MLH1, MSH2, MSH6, and PMS2). This work retrospectively assessed the role that these gene mutations play in the response to and survival of ICIs in NSCLC. Patients with NSCLC treated with nivolumab as the second-line treatment in the University Hospital of Salamanca were enrolled in this study. Survival and response analyses were performed according to groups of MMR system gene expression (MMR expression present or deficiency) and other subgroups, such as toxicity. There was a statistically significant relationship between the best response obtained and the expression of the MMR system (p = 0.045). The presence of toxicity grade ≥ 3 was associated with the deficiency expression of MMR (dMMR/MSI-H) group (p = 0.022; odds ratio = 10.167, 95% confidence interval (CI) 1.669–61.919). A trend towards greater survival and response to ICIs was observed in NSCLC and dMMR. Assessing the genes in the MMR system involved in NSCLC is key to obtaining personalized immunotherapy treatments.
Ewing sarcomas are an uncommon group of malignant neoplasms. A multidisciplinary approach is highly recommended to reach a correct diagnosis, considering the clinical, radiological, and histopathological aspects. Since in up to 90% of cases, the translocation t (11; 22) (q24; q12) occurs resulting in a chimeric fusion transcript EWSR1-FLI-1. The pathologist has several tools in addition to conventional techniques (hematoxylin and eosin), such as immunohistochemistry, which plays a very important role in the differential diagnosis. We present a series of 15 cases of molecularly confirmed ES, in which we found a sensitivity of 100% for CD99 and 80% for PAX8 by immunohistochemistry. This indicates a high sensitivity; however, it is known that both CD99 and PAX8 are also expressed in other tumours. Therefore, molecular confirmation should be performed in all cases.
Introducción y objetivo: La punción aspiración con aguja fina es el método de elección para el diagnóstico del nódulo tiroideo, permitiendo discriminar entre lesiones malignas y benignas en un alto porcentaje de pacientes. Sin embargo, las categorías diagnósticas I (No diagnóstico o insatisfactorio) y III (Atipia o Lesión folicular de Significado Incierto) del Sistema Bethesda suponen un reto en el manejo de los nódulos tiroideos. El objetivo del presente trabajo es exponer las opciones de que se disponen en el momento actual para intentar incrementar la rentabilidad de estos diagnósticos. Síntesis: En primer lugar, el abordaje multidisciplinar de los casos, la posibilidad de seguimiento, la repetición de la punción aspiración, la complementación del diagnóstico incorporando técnicas inmunohistoquímicas o moleculares, y finalmente la posibilidad de realizar una biopsiacilindro. Conclusiones: Estas alternativas son especialmente útiles en la categoría diagnóstica III, mientras que se prefiere la opción de seguimiento o repetición de PAAF en la categoría diagnóstica I.
We present a case of a myxoid and lipomatous solitary fibrous tumor that was observed in a 67-year-old man. The tumor, which had a maximum diameter of 10 cm, was located in the soft tissues of the dorsal region and appeared macroscopically well delimited and encapsulated. Upon cutting, a markedly gelatinous internal surface was observed. A microscopic study revealed an intense and diffusely myxoid neoplasia, with small areas of adipose aspect, in which histological (staghorn vessels, perivascular hyalinization, fusiform cells of benign aspect) and immunohistochemical (intensive positivity for CD34, Bcl-2 and Cd99 and negativity for muscle markers) data were consistent with a solitary fibrous tumor were observed. To conclude, the main characteristics of this lesion are discussed, and a differential diagnosis is established with other entities.
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