EBUS-TBNA Cytological Samples for Comprehensive Molecular Testing in Non-Small Cell Lung Cancer.

Clinical guidelines promote the identification of several targetable biomarkers to drive treatment decisions in advanced non-small cell lung cancer (NSCLC), but half of all patients do not have a viable biopsy. Specimens from endobronchial-ultrasound transbronchial needle aspiration (EBUS-TBNA) are an alternative source of material for the initial diagnosis of NSCLC, however their usefulness for a complete molecular characterization remains controversial. EBUS-TBNA samples were prospectively tested for several biomarkers by next-generation sequencing (NGS), nCounter, and immunohistochemistry (PD-L1). The primary objectives were to assess the sensitivity of EBUS-TBNA samples for a comprehensive molecular characterization and to compare its performance to the reference standard of biopsy samples. Seventy-two EBUS-TBNA procedures were performed, and 42 NSCLC patients were diagnosed. Among all cytological samples, 92.9% were successfully genotyped by NGS, 95.2% by nCounter, and 100% by immunohistochemistry. There were 29 paired biopsy samples; 79.3% samples had enough tumor material for genomic genotyping, and 96.6% for PD-L1 immunohistochemistry. A good concordance was found between both sources of material: 88.9% for PD-L1, 100% for NGS and nCounter. EBUS-TBNA is a feasible alternative source of material for NSCLC genotyping and allows the identification of patient candidates for personalized therapies with high concordance when compared with biopsy.

[Wilkie Syndrome. A case report]. / Síndrome de Wilkie. Reporte de un caso.

BACKGROUND: Wilkie syndrome, also referred as superior mesenteric artery syndrome, is an unusual cause of a proximal small bowel obstruction. It is characterised by the compression of the duodenum in its third portion due to a narrowing of the space between the superior mesenteric artery and the aorta. Its presentation symptoms are consistent and include the obstruction of the proximal small bowel. However, the physical and laboratory findings are non-specific. Nevertheless, many imaging methods are useful for its diagnosis. The management of this condition varies between observation and surgery, depending on each particular case. CLINICAL CASE: The case is presented of a 19 year-old male who began with acute, intense abdominal pain, nausea, vomiting, and diarrhoea. On examination, he had abdominal wall rigidity and hyperesthesia. Imaging studies were requested, revealing a decreased superior mesenteric artery angle, a shortening of the aortic mesenteric distance, and a decrease in the calibre of the third duodenal portion, all findings concomitant with Wilkie syndrome. Conservative treatment was applied and the patient was discharged without complications. CONCLUSIONS: Wilkie syndrome continues to be an unknown condition to the general practitioner, and the underdiagnosis of this condition may put a patient at risk of serious complications. A high index of suspicion is required to reach a diagnosis. Early treatment should give a good outcome most of the time.

[Frequency of heart tumors and their histopathological correlation]. / Frecuencia de tumores cardiacos y su correlación histopatológica.

BACKGROUND: The presentation of heart tumors is very uncommon. Eighty percent of primary heart neoplasias are benign, and myxomas represent the first cause in frequency among adult populations. Due to the frequency of presentation of these tumors, it is common to make the clinical/surgical diagnosis without obtaining histopathologic confirmation. Our objective was to determine the frequency of presentation of heart tumors and its correlation between the surgical/clinical and histopathologic diagnosis in our Institute. METHODS: This is a case series with 16 patients with cardiac tumors treated surgically at the Department of Cardiothoracic Surgery during a 4-year period. We used descriptive statistics, and quantitative variables are expressed as mean, range and standard deviation whereas qualitative variables were described as proportions. RESULTS: We included 3 men (19%) and 13 women (81%) with a mean age of 41.4 +/- 16.2 years. Clinical presentation was predominantly of congestive heart failure. Clinical diagnosis was determined in 15 patients (94%) and just one case of intracardiac thrombus (6%), whereas the histopathologic diagnosis reported myxoma in only 11 cases (68.8%), three patients with intra-cardiac thrombus (18.7%) and two patients with sarcomas (12.5%), leiomiosarcoma and angiosarcoma, respectively. We found a positive correlation between the clinical diagnosis and the histopathology results. There was no mortality. CONCLUSIONS: Even though myxomas represent the most frequent proportion of presentation in heart tumors, histopathological confirmation is necessary for diagnosis. Clinical and histopathologic correlation represents the basis for the choice of adequate management strategies and prognosis for the patient.