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1.
Balkan J Med Genet ; 22(2): 17-24, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31942412

RESUMO

Several studies demonstrated the utility of plasma-based cell-free circulating tumor DNA (ccfDNA) in determination of mutations in non-small cell lung cancer (NSCLC). We aimed to report our results of next generation sequencing (NGS) using liquid biopsy in patients with NSCLC. Patients with advanced stage NSCLC were enrolled and their genomic profiling results were recorded. Next generation sequencing targeted panel includes 19 hot-spot genes. The plasma was separated from the peripheral blood sample and ccfDNAs were isolated for NGS. We performed genomic profiling in 100 patients (20 females and 80 males) with a median age of 59.3 (range 26-79). A second liquid biopsy was performed in eight patients who developed progressive disease after the first treatment. The study population had adenocarcinoma (AC) (n = 73), squamous cell carcinoma (SCC) (n = 14), or NSCLC-NOS (not otherwise specified) (n = 13). In the SCC group, three of 14 patients had variants on EGFR and MET genes. In the AC and NSCLC-NOS groups, 39 out of 86 patients (45.3%) had variants. The most common one was in the EGFR gene (n = 27, 31.4%) including seven mutations related to drug resistance and two were polymorphisms. Three patients had both driver and resistance mutations (EGFR T790M, n = 2; KRAS exon 2 G12S and MET exon 14 E1012K, n = 1). Fifteen patients (17.4%) had an activating EGFR mutation and eight patients (9.3%) had variants in the KRAS gene. We reported our results regarding genomic profiling related to treatment using liquid biopsy in patients with NSCLC. Advantages of this method are the non invasiveness and reproducibility.

2.
Gen Thorac Cardiovasc Surg ; 60(9): 610-3, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22610163

RESUMO

Primary intrapulmonary thymomas are very rare. So far, research in the field has identified only 31 cases. In all databases, a total of two published articles describing primary intrapulmonary thymoma with myasthenia gravis were encountered between 1950 and 2010. We admitted a 58-year-old male patient with a mass in the right lower lobe of his lung. The tumor was excised, and histological findings were found to be consistent with Type AB thymoma. The patient was intubated due to respiratory distress during the postoperative period, and his acetylcholine receptor antibody was determined positive. He was diagnosed with myasthenia gravis. Pyridostigmine therapy and plasmapheresis were scheduled; yet, we could not begin therapy because of rapid deterioration of the patient's respiratory status due to myasthenia gravis and subsequently resulting in intubation-associated pneumonia. The patient's health rapidly worsened, and he died.


Assuntos
Neoplasias Pulmonares/etiologia , Miastenia Gravis/complicações , Timoma/etiologia , Neoplasias do Timo/etiologia , Biópsia , Progressão da Doença , Evolução Fatal , Humanos , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Pneumonectomia , Timoma/patologia , Timoma/cirurgia , Neoplasias do Timo/patologia , Neoplasias do Timo/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
3.
J BUON ; 16(4): 759-64, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22331734

RESUMO

PURPOSE: Sorafenib has been found to have significant clinical activity against hepatocellular carcinoma (HCC). Hand-foot skin syndrome (HFS) has been described with the usage of sorafenib. It is a dose-limiting toxicity and may lead to compromised efficacy because of dose reduction. METHODS: From 14 patients diagnosed with HCC 10 who developed HFS while on treatment with sorafenib were included in this study. Sorafenib was administered orally at a dose of 400 mg twice daily vitamin E usage can be effective in HFS due to sorafenib, therefore vitamin E 300 mg/day was started when HFS occurred. HFS was graded according to the National Cancer Institute (NCI) criteria. RESULTS: Grade 2-3 HFS was found in 10 of 14 patients. Vitamin E was started to all patients without using topical agents. Mean time to the appearance of HFS was 15 ± 3 days (range 10-22) after starting sorafenib. Grade was 3 in 4 patients, 2 in 4 patients and 1 in 2 patients. Vitamin E administration had a marked effect after 10-12 days of its initiation. Skin lesions disappeared without any dose modification. CONCLUSION: Sorafenib is the gold standard for HCC treatment. Dose modification due to HFS decreases the effectiveness of this agent. Adding vitamin E to sorafenib is effective in HFS without dose reduction or treatment interruption. This is the first clinical study to report resolution of HFS with vitamin E due to sorafenib therapy.


Assuntos
Antineoplásicos/efeitos adversos , Benzenossulfonatos/efeitos adversos , Carcinoma Hepatocelular/tratamento farmacológico , Síndrome Mão-Pé/tratamento farmacológico , Síndrome Mão-Pé/etiologia , Neoplasias Hepáticas/tratamento farmacológico , Piridinas/efeitos adversos , Vitamina E/uso terapêutico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Niacinamida/análogos & derivados , Compostos de Fenilureia , Sorafenibe
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