Search Results (56)

Molecular testing is recommended in patients with metastatic non-small cell lung cancer (NSCLC), but the extent of its use in Poland is unknown. The aim of the POL-MOL study was to investigate the frequency of using molecular testing in Polish patients with NSCLC. The invited Polish oncologists completed two questionnaires, and data for 1001 patients undergoing systemic treatment for NSCLC were collected. The use of molecular tests for the following genetic mutations was recorded: EGFR (del19, sub21), EGFR (other than del19/sub21), EGFR T790M, ALK (expression and rearrangement), RET, NTRK, ROS1, BRAF, HER2, and MET, as well as for immunochemical assessment of programmed cell death ligand 1 (PD-L1). Thanks to the weighting procedure, the results are representative of the population of Polish patients treated for NSCLC. Molecular tests were applied in 78% of patients with NSCL, 70% of patients with NSCLC not otherwise specified, and in 12% of patients with squamous cell carcinoma of the lung. The frequency of application increased with disease stage in all groups. In patients with squamous cell carcinoma, approximately 30% of tests for EGFR, ALK, and RET mutations were positive, which confirms the importance of testing at least a preselected subgroup of patients. Full article

The emergence of targeted therapies in non-small-cell lung cancer (NSCLC), including inhibitors of epidermal growth factor receptor (EGFR) tyrosine kinase, has increased the need for robust companion diagnostic tests. Nowadays, detection of actionable variants in exons 18–21 of the EGFR gene by qPCR and direct DNA sequencing is often replaced by next-generation sequencing (NGS). In this study, we evaluated the diagnostic usefulness of targeted NGS for druggable EGFR variants testing in clinical NSCLC material previously analyzed by the IVD-certified qPCR test with respect to DNA reference material. We tested 59 NSCLC tissue and cytology specimens for EGFR variants using the NGS ‘TruSight Tumor 15’ assay (Illumina) and the qPCR ‘cobas EGFR mutation test v2’ (Roche Diagnostics). The sensitivity and specificity of targeted NGS assay were evaluated using the biosynthetic and biological DNA reference material with known allelic frequencies (VAF) of EGFR variants. NGS demonstrated a sufficient lower detection limit for diagnostic applications (VAF < 5%) in DNA reference material; all EGFR variants were correctly identified. NGS showed high repeatability of VAF assessment between runs (CV% from 0.02 to 3.98). In clinical material, the overall concordance between NGS and qPCR was 76.14% (Cohen’s Kappa = 0.5933). The majority of discordant results concerned false-positive detection of EGFR exon 20 insertions by qPCR. A total of 9 out of 59 (15%) clinical samples showed discordant results for one or more EGFR variants in both assays. Additionally, we observed TP53 to be a frequently co-mutated gene in EGFR-positive NSCLC patients. In conclusion, targeted NGS showed a number of superior features over qPCR in EGFR variant detection (exact identification of variants, calculation of allelic frequency, high analytical sensitivity), which might enhance the basic diagnostic report. Full article

Background: Fibrotic hypersensitivity pneumonitis (fHP) shares many features with other fibrotic interstitial lung diseases (ILD), and as a result it can be misdiagnosed as idiopathic pulmonary fibrosis (IPF). We aimed to determine the value of bronchoalveolar lavage (BAL) total cell count (TCC) and lymphocytosis in distinguishing fHP and IPF and to evaluate the best cut-off points discriminating these two fibrotic ILD. Methods: A retrospective cohort study of fHP and IPF patients diagnosed between 2005 and 2018 was conducted. Logistic regression was used to evaluate the diagnostic utility of clinical parameters in differentiating between fHP and IPF. Based on the ROC analysis, BAL parameters were evaluated for their diagnostic performance, and optimal diagnostic cut-offs were established. Results: A total of 136 patients (65 fHP and 71 IPF) were included (mean age 54.97 ± 10.87 vs. 64.00 ± 7.18 years, respectively). BAL TCC and the percentage of lymphocytes were significantly higher in fHP compared to IPF (p < 0.001). BAL lymphocytosis >30% was found in 60% of fHP patients and none of the patients with IPF. The logistic regression revealed that younger age, never smoker status, identified exposure, lower FEV₁, higher BAL TCC and higher BAL lymphocytosis increased the probability of fibrotic HP diagnosis. The lymphocytosis >20% increased by 25 times the odds of fibrotic HP diagnosis. The optimal cut-off values to differentiate fibrotic HP from IPF were 15 × 10⁶ for TCC and 21% for BAL lymphocytosis with AUC 0.69 and 0.84, respectively. Conclusions: Increased cellularity and lymphocytosis in BAL persist despite lung fibrosis in HP patients and may be used as important discriminators between IPF and fHP. Full article

The recommendations were developed as answers to previously formulated questions concerning everyday diagnostic and therapeutic challenges. They were developed based on a review of the current literature using the GRADE methodology. The experts suggest that PF-ILD be diagnosed based on a combination of different criteria, such as the aggravation of symptoms, progression of radiological lesions, and worsening of lung function test parameters. The experts recommend a precise diagnosis of an underlying disease, with serological testing for an autoimmune disease always being included. The final diagnosis should be worked out by a multidisciplinary team (MDT). Patients with an interstitial lung disease other than IPF who do not meet the criteria for the progressive fibrosis phenotype should be monitored for progression, and those with systemic autoimmune diseases should be regularly monitored for signs of interstitial lung disease. In managing patients with interstitial lung disease associated with autoimmune diseases, an opinion of an MDT should be considered. Nintedanib rather than pirfenidon should be introduced in the event of the ineffectiveness of the therapy recommended for the treatment of the underlying disease, but in some instances, it is possible to start antifibrotic treatment without earlier immunomodulatory therapy. It is also admissible to use immunomodulatory and antifibrotic drugs simultaneously. No recommendations were made for or against termination of anti-fibrotic therapy in the case of noted progression during treatment of a PF-ILD other than IPF. The experts recommend that the same principles of non-pharmacological and palliative treatment and eligibility for lung transplantation should be applied to patients with an interstitial lung disease other than IPF with progressive fibrosis as in patients with IPF. Full article

While fibroblast growth factor receptors (FGFRs) are involved in several biological pathways and FGFR inhibitors may be useful in the treatment of squamous non-small cell lung cancer (Sq-NSCLC), FGFR aberrations are not well characterized in Sq-NSCLC. We comprehensively evaluated FGFR expression, fusions, and variants in 40 fresh-frozen primary Sq-NSCLC (stage IA3–IV) samples and tumor-adjacent normal tissues using real-time PCR and next-generation sequencing (NGS). Protein expression of FGFR1–3 and amplification of FGFR1 were also analyzed. FGFR1 and FGFR4 median gene expression was significantly (p < 0.001) decreased in tumors compared with normal tissue. Increased FGFR3 expression enhanced the recurrence risk (hazard ratio 4.72, p = 0.029), while high FGFR4 expression was associated with lymph node metastasis (p = 0.036). Enhanced FGFR1 gene expression was correlated with FGFR1 protein overexpression (r = 0.75, p = 0.0003), but not with FGFR1 amplification. NGS revealed known pathogenic FGFR2,3 variants, an FGFR3::TACC3 fusion, and a novel TACC1::FGFR1 fusion together with FGFR1,2 variants of uncertain significance not previously reported in Sq-NSCLC. These findings expand our knowledge of the Sq-NSCLC molecular background and show that combining different methods increases the rate of FGFR aberrations detection, which may improve patient selection for FGFRi treatment. Full article

Background: Large pericardial effusion (LPE) is associated with high mortality. In patients with cardiac tamponade or with suspected bacterial etiology of pericardial effusion, urgent pericardial decompression is necessary. Aim: The aim of the present retrospective study was to assess the short-term results of pericardial decompression combined with prolonged drainage in LPE. Material: This study included consecutive patients with LPE who had been treated with pericardial fluid drainage between 2007 and 2017 in the National Tuberculosis and Lung Diseases Research Institute. Methods: Echocardiographic examination was used to confirm LPE and the signs of cardiac tamponade. Pericardiocentesis or surgical decompression were combined with pericardial fluid (PF) drainage. Short-term effectiveness of therapy was defined as less than 5 mm of fluid behind the left ventricular posterior wall in echocardiography. Results: The analysis included 74 patients treated with pericardial fluid drainage (33 female and 41 male), mean age 58 years, who underwent pericardial decompression. Out of 74 patients, 26 presented with cardiac tamponade symptoms. Pericardiocentesis was performed in 18 patients and pericardiotomy in 56 patients. Median PF drainage duration was 13 days. In 17 out of 25 patients with neoplastic PF, intrapericardial cisplatin therapy was implemented. In 4 out of 49 patients with non-malignant PF, purulent pericarditis was recognized and intrapericardial fibrinolysis was used. Short-term effectiveness of the therapy was obtained in all of patients. Non-infective complications were noted in 16% of patients and infective ones in 10%. Conclusion: Pericardial decompression combined with prolonged PF drainage was safe and efficient method of LPE treatment. Full article

Introduction: This document presents the Guideliness of the Polish Respiratory Society (PTChP, Polskie Towarzystwo Chorób Płuc) for diagnosis and treatment of idiopathic pulmonary fibrosis (IPF), developed by agroup of Polish experts. Material and methods: The recommendations were developed in the form of answers to previously formulated questions concer-ning everyday diagnostic and therapeutic challenges. They were developed based on acurrent literature review using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. Results: We formulated 28 recommendations for diagnosis (8), pharmacological treatment (12) as well as non-pharma-cological and palliative therapy (8). The experts suggest that surgical lung biopsy (SLB) not be performed in patients with the probable usual interstitial pneumonia (UIP) pattern, with an appropriate clinical context and unanimous opinion of a multidisciplinary team. The experts recommend using antifibrotic agents in IPF patients and suggest their use irrespective of the degree of functional impairment. As regards non-pharmacological and palliative treatment, strong re-commendations were formulated regarding pulmonary rehabilitation, oxygen therapy (in patients with chronic respiratory failure), preventive vaccinations as well as referring IPF patients to transplant centres. Table 1 presents an aggregate list of recommendations. Conclusions: The Polish Respiratory Society Working Group developed Guideliness for IPF diagnosis and treatment. Full article

Granulomatosis with polyangiitis (GPA) is defined as a necrotizing granulomatous inflammation usually involving the upper and lower respiratory tract with necrotizing vasculitis affecting predominantly small to medium vessels. Because of non-specific symptoms, its radiological presentation, and the diversity of its clinical expression, it is not uncommon to for it to be misdiagnosed, especially in the elderly. Although biopsy and histological examination seem to be essential for GPA diagnosis, their results are sometimes ambiguous and not helpful in making a decision. In this report, we present difficulties in the recognition of GPA in two elderly patients in whom, despite twice performing a diagnostic thoracotomy, GPA was recognized almost 4 and 6 years after the first symptoms. Full article

Introduction: Hypersensitivity pneumonitis (HP) is the third most common interstitial lung disease after idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia. Pathogenesis of HP is related to repeated exposure to inhaled environmental antigens that sensitise the susceptible, genetically predisposed persons. The aim of the present retrospective study was to summarise the diagnostic methods used in consecutive patients with HP, recognised in a single pulmonary unit, between 2005 and 2015, and to compare them with current diagnostic criteria. Material and methods: 135 patients, 68 males, 67 females, median age 53 years (18–75 years), entered the study. Chest CT features characteristic of HP were defined as: mosaic attenuation of lung parenchyma, air trapping and/or ill-defined centrilobular nodules. Lymphocytosis in BAL was defined as ≥30%. Results: Median time from first symptoms to diagnosis was 12 months. The exposure to one or more allergens was found in 94% of patients, chest CT features characteristic of HP have been reported in 87%, BAL lymphocytosis—in 86%. According to recent diagnostic criteria—in 54% of patients, clinical diagnosis of HP was confident, in 16%—probable, in 26%—possible and in 4%—unlikely. The confirmation of HP with lung biopsy has been obtained in 36% of non-confident cases (16% of the study group). Conclusions: HP diagnosis was confirmed according to current diagnostic criteria in 70% of patients diagnosed between 2005 and 2015. Contradictions to lung biopsy have been the main reason for inability to confirm HP in non-confident cases. Full article

Wstęp: Wysięk do worka osierdziowego o etiologii nowotworowej (NPE) stanowi częstą przyczynę zachorowalności i umieralności u chorych onkologicznych. Często przebiega w postaci tamponady serca wymagającej pilnego odbarczenia: perikardiocentezy lub perikardiotomii wraz z drenażem płynu. Pomimo dużej skuteczności tych zabiegów, nawrót płynu w osierdziu występuje u 30–60% pacjentów. Cisplatyna podawana doosierdziowo jest skuteczną i uznaną metodą przeciwdziałania ponownemu gromadzeniu się płynu w osierdziu w przebiegu raka płuc i raka piersi. Natomiast jej efektywność w leczeniu tamponady serca u chorych na raka nerki pozostaje nieznana. Opis przypadku: Przedstawiono przypadek 82-letniego mężczyzny chorego na raka nerki, który został przyjęty na oddział intensywnej terapii z powodu zagrażającej tamponady serca. W trybie pilnym wykonano zabieg perikardiotomii podmostkowej i ewakuowano z osierdzia 1000 ml krwistego płynu. Na wewnętrznej powierzchni osierdzia zauważono kilka różowych guzków, które pobrano do badania histopatologicznego, gdzie stwierdzono komórki raka jasnokomórkowego nerki. W związku z utrzymującymi się dużymi drenażami z osierdzia zdecydowano o konieczności zastosowania cisplatyny doosierdziowo. Ponadto już w pierwszej dobie po zabiegu chory otrzymał kolchicynę doustnie w dawce 0,5 mg dziennie. Nie zaobserwowano skutków niepożądanych terapii. Pacjent zmarł po 12 miesiącach z powodu progresji nowotworu i wyniszczenia. Nie odnotowano nawrotu wysięku do worka osierdziowego. Wnioski: Jest to pierwszy opis przypadku prezentujący długotrwałą skuteczność w prewencji nawrotu płynu w osierdziu po doosierdziowym podaniu cisplatny w połączeniu z doustną kolchicyną w leczeniu NPE w przebiegu jasnokomórkowego raka nerki z przerzutami. Full article

Introduction: Neoplastic pericardial effusion (NPE) represents a common cause of morbidity and mortality in patients with cancer. NPE presents frequently as cardiac tamponade, requiring urgent pericardiocentesis or pericardiotomy, with subsequent pericardial fluid drainage. Despite high effectiveness of such procedures, the recurrence of effusion is noted in 30–60% of patients. Intrapericardial therapy with cisplatin was found to be effective in NPE due to lung and breast cancer. Its role in cardiac tamponade due to renal cancer is unknown. Case presentation: We presented an 82-year-old man with renal cancer who was admitted to the Intensive Care Unit because of threatening pericardial tamponade due to NPE. Urgent subxiphoid pericardiotomy was performed with subsequent evacuation of 1000 ml of bloody fluid. On the inner surface of the pericardium, several pink nodules were found. Histological examination revealed carcinoma clarocellulare. In view of the persistent high drainage of the pericardium, intrapericardial cisplatin therapy was performed. On the first day after surgery, colchicine 0.5 mg/day/po was also introduced. No side effects of the treatment were observed. The patient died 12 months later due to cancer progression and cachexia. No recurrence of pericardial effusion was observed. Conclusion: This is the first case study demonstrating long-term efficacy and safety of intrapericardial cisplatin combined with oral colchicine in NPE due to metastatic renal cell carcinoma. Full article

Introduction: Lung cancer is the most common cancer in Poland and worldwide, and the leading cause of cancer-related deaths. Compared to the present day, the annual number of new cases of lung cancer will have increased by approximately 50%, by 2030. The overall ratio of mortality to incidence totals 0.87 and is among the highest. The five-year survival rate in Poland has recently achieved 13.4%. In 2015, lung cancer screening using low-dose computed tomography (LDCT) was introduced to routine clinical practice in the United States following the publication of the largest randomised study, The National Lung Screening Trial. The implementation of screening programmes in Poland and the rest of Europe also seems unavoidable. Due to the differences, both in the socioeconomic considerations and healthcare funding, compared to that in the United States, the current approach comes down to the awaited results of the European randomised study, NELSON. Material and methods: During the meeting of an expert panel at the “Torakoneptunalia 2016” conference in Jastarnia, Poland, a decision was made to summarise and publish the current data on LDCT lung cancer screening in the form of recommendations, or a position statement. The document was prepared by a team composed of a radiologist, thoracic surgeons, pulmonologists, clinical oncologists, epidemiologists, internists, health prevention specialists and pathologists. It reflects the current body of knowledge about lung cancer, its diagnosis and treatment, and provides recommendations on early detection of lung cancer using LDCT. The recommendations address the screening procedure, the requirements for the teams conducting the screening, and the requirements for radiologists, pathologists and surgeons involved in the diagnosis and treatment of patients. Results: While awaiting the results of the NELSON study on lung cancer screening methodology, the multidisciplinary group of experts presents their position, laying grounds for the development of an action plan for early detection of lung cancer in the upcoming future in Poland. Conclusions: Primary and secondary prophylaxis are the principal ways to reduce lung cancer mortality. While smoking cessation is a task of utmost importance, it must be accompanied by an effective screening programme if the outcome of the disease is to be improved. Full article

A 29-year old man was admitted to the intensive care unit after losing consciousness. On physical examination, a loud systolic murmur over the heart was found. Echocardiography revealed narrowing of pulmonary artery with high pressure gradient. Computed tomography of the chest revealed the presence of large tumour localised in the upper anterior mediastinum. Due to the risk of total closure of the pulmonary artery, interventional mediastinotomy was performed and diagnosis of carcinoma embryonale was established. Subsequent chemotherapy (BEP regimen) has brought regression of tumour and significant improvement in haemodynamic parameters (relief of pressure gradient in pulmonary artery). During the second surgery, the resection of all accessible tumour mass together with marginal resection of the right upper lobe was performed. No signs of cardiac or great vessels infiltration was found. Histopathologic examination revealed the necrotic masses and neoplastic foci diagnosed as teratoma immaturum. In a four-month follow-up the patient’s condition remained good. The patient is still under the care of both oncological and cardiological specialists. Thus far he has not required further chemotherapy. Holter ECG monitoring revealed no arrhythmia, but the patient is still treated with mexiletine. The patient is planning to return to work. Full article

Leflunomide is a disease-modifying anti-rheumatic drug that is used in patients with rheumatoid arthritis (RA), who do not respond well to standard RA treatment. Leflunomide therapy may, however, be related with significant pulmonary complications in predisposed individuals. We present a patient with RA treated with leflunomide, in whom leflunomide lung injury had a fatal outcome. Potential risk factors for pulmonary complications of leflunomide treatment and the management of patients with leflunomide lung injury are discussed. Full article

Zarostowe zapalenie oskrzelików jest rzadką chorobą płuc, której istotą jest podśluzówkowe i okołooskrzelikowe włóknienie oskrzelików prowadzące do koncentrycznego zwężenia ich światła. J edną z częstych przyczyn powyższych zmian jest inhalacja toksycznych gazów, oparów i dymów. Z a kluczowe we wstępnej diagnostyce uważa się stwierdzenie nieodwracalnej obturacji ze zmniejszeniem wartości FEV₁ poniżej 60%, po wykluczeniu innych przyczyn tych zaburzeń. Ostateczne rozpoznanie opiera się na badaniu histologicznym wycinka płuca. Niezależnie od czynnika sprawczego, rokowanie jest złe, a efekty podejmowanych prób leczenia pozostają niezadowalające. W pracy przedstawiono przypadek młodego chemika narażonego wskutek niestosowania środków ochronnych na toksyczne działanie gazów i oparów. Duszność wysiłkowa oraz nieodwracalne zaburzenia obturacyjne stały się powodem diagnostyki chorego na oddziale chorób płuc. Na podstawie badania histologicznego wycinka płuca rozpoznano zarostowe zapalenie oskrzelików. Full article