Non-invasive, fast, and high-performance EGFR gene mutation prediction method based on deep transfer learning and model stacking for patients with Non-Small Cell Lung Cancer.

Purpose: To propose an intelligent, non-invasive, highly precise, and rapid method to predict the mutation status of the Epidermal Growth Factor Receptor (EGFR) to accelerate treatment with Tyrosine Kinase Inhibitor (TKI) for patients with untreated adenocarcinoma Non-Small Cell Lung Cancer. Materials and methods: Real-world data from 521 patients with adenocarcinoma NSCLC who performed a CT scan and underwent surgery or pathological biopsy to determine EGFR gene mutation between January 2021 and July 2022, is collected. Solutions to the problems that prevent the model from achieving very high precision, namely: human errors made during the annotation of the database and the low precision of the output decision of the model, are proposed. Thus, among the 521 analyzed cases, only 40 were selected as patients with EGFR gene mutation and 98 cases with wild-type EGFR. Results: The proposed model is trained, validated, and tested on 12,040 2D images extracted from the 138 CT scans images where patients were randomly partitioned into training (80 %) and test (20 %) sets. The performance obtained for EGFR gene mutation prediction was 95.22 % for accuracy, 960.2 for F1_score, 95.89 % for precision, 96.92 % for sensitivity, 94.01 % for Cohen kappa, and 98 % for AUC. Conclusion: An EGFR gene mutation status prediction method, with high-performance thanks to an intelligent prediction model entrained by highly accurate annotated data is proposed. The outcome of this project will facilitate rapid decision-making when applying a TKI as an initial treatment.

Quality of life and its determinants in patients with chronic respiratory diseases in the Fes-Meknes region, Morocco.

Chronic respiratory diseases (CRDs) pose a serious public health issue, affecting social functioning and psychological well-being and leading to a deterioration in the quality of life. The aim of this study was to assess the quality of life of patients with CRDs and determine the factors associated with their impairment in Morocco. A cross-sectional study was conducted in the Pulmonology Department of the Hassan II University Hospital in Fez in 2021. Data collection was carried out using an anonymous questionnaire containing sociodemographic, clinical, and therapeutic information. We employed the Moroccan version of the 12-item short-form (SF-12) scale to assess the mental and physical quality of life of patients. Bivariate analysis was performed to investigate the association between various factors and quality of life, using tests appropriate to the types of variables studied. Subsequently, multivariate analysis through multiple linear regression was employed to determine factors associated with quality of life, taking into account confounding factors. The threshold for inclusion in the model was set at 20%. Significant associations are presented as ß values along with their 95% confidence intervals (CI). Our study included 209 patients, with 50.7% being female and 74.2% aged over 50 years. The most frequent clinical symptom was coughing. The average physical quality of life was estimated at 34.45±13.78, and the mental quality of life was 33.72±19.79. Multivariate analysis revealed that the deterioration of physical quality of life was associated with marital status (single) [ß=-6.84; 95% CI (-11.43; -2.25); p=0.004], stage II dyspnea on the Modified Medical Research Council scale [ß=-4.94; 95% CI (-9.41; -0.52); p=0.029], and the presence of cyanosis [ß=-9.65; 95% CI (-15.64; -3.67); p=0.002]. The factors negatively associated with mental health in our patients were age ≥50 [ß=-7.84; 95% CI (-15.05; -0.62); p=0.033], marital status (single) [ß=-7.81; 95% CI (-15.14; -0.48); p=0.037], and presence of cyanosis [ß=-10.70; 95% CI (-20.08; -1.32); p=0.026]. The SF-12 calculation reflected an impairment in the quality of life of patients with CRDs. It is imperative to integrate the assessment of quality of life into the management strategy for this pathology.

Molecular Testing for EGFR Mutation in Moroccan NSCLC Patients: CHU Hassan II-Fez Experience.

Epidermal growth factor receptor (EGFR) mutation screening in non-small cell lung cancer (NSCLC) is now used to guide treatment decisions to identify patients with EGFR positive mutations that predict response to EGFR tyrosine kinase inhibitors. This study aimed to explore with a prospective study the current testing practices and the predictive value of EGFR mutations in a series of 261 patients with NSCLC. EGFR mutation testing was conducted using 2 different assays: bidirectional Sanger sequencing of polymerase chain reaction (PCR) and real-time PCR on the Rotor-Gene Q instrument. Epidermal growth factor receptor mutation testing was performed for 261 patients with lung cancer. Exons 18 to 21 were successfully analyzed in 113 tumors by Direct sequencing and in 148 tumors by real-time PCR. The prevalence of positive EGFR-mutations in each method was 22.1% (N = 25) and 24.3% (N = 36), respectively (P = .3). In total, EGFR mutations were detected in 59 patients among 261 patients with NSCLC. A statistically significant association between female sex, nonsmoking history, nonsolid major pattern, and a higher EGFR mutation frequency. In this study, we investigated clinicopathological differences between tumors harboring exon 19del and those harboring L858R. We did not find any significant differences between the 2 mutations and gender or smoking features, interestingly, the prevalence of patients aged >60 years was significantly higher in the L858R group than in the exon 19del group (81.8% vs 55.8%, P = .05). A significant association was observed between exon 19 deletions and the papillary major pattern, but no correlation was detected between exon 21 mutation and any histological pattern. This prospective study documented the real-world clinical testing of EGFR mutation in Moroccan NSCLC patients. Our experience confirms the need to develop standards-based guidelines for the routine performance and evaluation of EGFR testing to improve clinical care for this subset of lung cancer. On the other hand, our study demonstrated that tumors with exon 19 deletions and L858R harbor specific clinicopathological features in NSCLC.

Anti-Synthetase Syndrome: A Case Report on the Elevated Risk of Pneumocystosis.

Pneumocystis carinii pneumonia (PCP), now referred to as Pneumocystis jirovecii pneumonia (PJP), occurs in immunocompromised patients. It is particularly associated with cellular immunodeficiency due to certain diseases or treatments. The risk of PCP is likely correlated with the severity of cellular immunity damage. However, excluding AIDS, the precise degree of immunosuppression required to develop PCP is not yet clearly understood. We report the case of a 58-year-old patient who presented with progressively worsening dyspnea. The clinical examination revealed a SaO2 of 88% on room air and the appearance of mechanic's hands. A thoracic CT scan showed interstitial lung disease (ILD). The immunological work-up was positive for antinuclear antibodies (ANA) and anti-JO-1 antibodies. Bronchoscopy with bronchoalveolar lavage (BAL) was performed, and the test for PJP came back positive.

Radioclinical Profile of Eosinophilic Lung: A Case Series.

In this study, we present findings from an analysis of 17 patients diagnosed with eosinophilic lung disease, with a majority (64.70%) being male. The average age of the patients was 54 ± 13.22 years. A history of uncontrolled asthma was noted in nine cases. The clinical picture was characterized by persistent dyspnea and cough. Blood hypereosinophilia was present in all cases, with a median of 1770 cells/ul. Two patients had a pulmonary eosinophilia greater than 25%. Radiological findings were consistent with diffuse bilateral ground-glass opacities or areas of consolidation in the majority of cases. The main etiologies identified were chronic eosinophilic pneumonia (12 cases), followed by eosinophilic granulomatosis with polyangiitis (3 cases), idiopathic hypereosinophilic syndrome (1 case) and drug-induced hypereosinophilia (1 case). All patients were treated with systemic corticosteroids, with the addition of immunosuppressive therapy necessary in three cases. Notably, five relapses were recorded after corticosteroid therapy was stopped.

Variable Expression Common Immune Deficiency: A Report of Five Cases.

We present five cases of common variable immunodeficiency (CVID), comprising three women and two men with a mean age of 23.8 ± 9.2 years. All our patients suffered from recurrent bronchopneumonitis, with complications of purulent pleurisy in two cases, requiring decortication in one case, and resulting in bronchiectasis in three cases. Digestive tract infections were observed in four patients, while two patients presented with ENT infections. One case was complicated by bacterial meningitis. All patients presented with global hypogammaglobulinemia, with CVID and granulomatous manifestation in one case. Treatment consisted of monthly immunoglobulin infusions.

A rare cause of bronchial obstruction: Endobronchial hamartoma case report.

Most of the pulmonary endobronchial lesions are malignant in origin. In rare instances, benign lesions such as endobronchial hamartoma may be the cause of the endobronchial tree obstruction. We present the case of a 57-year-old male patient from North Africa who presents with a history of a 5-month cough. Imaging, particulary CT scan, showed a mass on the right intermediate bronchus whose radiological characteristics are consistent with hamartoma. A biopsy of the mass obtained via bronchoscopy revealed chronic inflammation with no evidence for malignancy. The patient was treated surgically, and anatomopathology confirmed the diagnosis of hamartoma.

Post-tuberculosis fibrosing mediastinitis: A report of 3 cases.

Fibrosing mediastinitis is a rare entity generally caused by granulomatous disease. Most cases develop as a complication of histoplasmosis. Association with tuberculosis has been rarely documented. We report the case of 3 young patients who presented with superior vena cava syndrome several years after treated tuberculosis. Biological, radiological, and histological investigations led to the diagnosis of fibrosing mediastinitis.

Clinicopathological and prognostic implications of EGFR mutations subtypes in Moroccan non-small cell lung cancer patients: A first report.

BACKGROUND: Non-small cell lung cancer (NSCLC) remains a significant global health concern, with EGFR mutations playing a pivotal role in guiding treatment decisions. This prospective study investigated the prevalence and clinical implications of EGFR mutations in Moroccan NSCLC patients. METHODS: A cohort of 302 NSCLC patients was analyzed for EGFR mutations using multiple techniques. Demographic, clinical, and pathological characteristics were assessed, and overall survival (OS) outcomes were compared among different EGFR mutation subtypes. RESULTS: EGFR mutations were present in 23.5% of patients, with common mutations (81.69%) dominating. Common mutations showed strong associations with female gender and non-smoking status, while rare mutations were associated with a positive smoking history. Patients with EGFR mutations receiving tyrosine kinase inhibitors (TKIs) had significantly improved OS compared to wild-type EGFR patients. Notably, patients with common EGFR mutations had the highest OS, while those with rare mutations had a shorter survival period, albeit not statistically significant. CONCLUSION: This study highlights the relevance of EGFR mutation status in NSCLC patients, particularly in therapeutic decision-making. The association between smoking history and rare mutations suggests the need for tailored approaches. The survival advantage for patients with common EGFR mutations underscores the significance of personalized treatment strategies.

An epidermal growth factor receptor compound mutation of L858R with S768I in advanced non-small-cell lung cancer: a case report.

BACKGROUND: In the current treatment landscape for non-small cell lung cancers, epidermal growth factor receptor-tyrosine kinase inhibitors have emerged as a well-established treatment option for patients with advanced or metastatic disease. This is particularly true for those with commonly occurring epidermal growth factor receptor mutations. However, the therapeutic efficacy of these agents for so-called rare epidermal growth factor receptor mutations, and in particular those characterized by a high degree of complexity, such as double mutations, remains a subject of clinical uncertainty. CASE PRESENTATION: In this context, we present the case of a 64-year-old man of Moroccan descent, a lifelong non-smoker, diagnosed with metastatic non-small cell lung cancer characterized by a complex epidermal growth factor receptor mutation encompassing L858R and S768I. The patient subsequently underwent afatinib-based treatment, showing notable clinical results. These included a remarkable overall survival of 51 months, with a median progression-free survival of more than 39 months. CONCLUSIONS: This case report is a compelling testimony to the evolving therapeutic landscape of non-small cell lung cancers, providing valuable insight into the potential therapeutic efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors in the realm of rare and complex epidermal growth factor receptor mutations.

Pseudotumor pulmonary sarcoidosis: A case report.

Sarcoidosis is a benign multisystem granulomatosis of unknown etiology. The mediastino-hilar sphere is a preferred site for the disease. It can sometimes reveal a confusing pseudotumoral presentation, constituting a diagnostic trap to be considered. We report the case of a 56-year-old woman whose lesional process rapidly resolved after 2 months of corticosteroid therapy.

Anxiety and Depression in Patients With Chronic Respiratory Diseases in the Fès-Meknès Region of Morocco.

Background Chronic respiratory diseases (CRDs) are a major public health problem in Morocco. Several studies have shown that anxiety and depression are important comorbidities of CRDs and are often associated with CRDs. This study aimed to estimate the prevalence of depression and anxiety and identify their determinants in patients with CRDs. Methodology A cross-sectional study was conducted in the Pneumology Department at the Hassan II University Hospital in Fez in 2021. An anonymous questionnaire was used to collect sociodemographic, clinical, and therapeutic data. The Moroccan version of the Hospital Anxiety and Depression Scale (HADS) was used to measure depression and anxiety. A descriptive analysis was performed, followed by a bivariate analysis to investigate the association between anxiety and depression and other factors using tests appropriate to the types of variables studied. A p-value ≤0.05 was considered significant. Data entry was performed in Excel 2013 (Microsoft Corp., Redmond, WA, USA), and data analysis was done using SPSS software version 26 (IBM Corp., Armonk, NY, USA). Results The study included 209 patients, 50.7% (n = 106) of whom were female, with an average age of 57.84 ± 15.36 years. Chronic obstructive bronchopneumopathy was the most represented CRD (43.1%; n = 90), followed by asthma (32.2%; n = 67). The prevalence of depression and anxiety was 46.4% (n = 97) (95% confidence interval (CI) = 39.2-52.8) and 57.4 % (n = 120) (95% CI = 50.3-63.7), respectively. In the univariate analysis, depression was associated with the presence of dyspnea (51.3% vs. 32.7%; p = 0.018), the presence of asthenia (56.5% vs. 38.5%; p = 0.009), the use of oxygen therapy (66.7% vs. 42.7%; p = 0.015), and a higher number of hospitalizations (76.9% vs. 44.4%; p = 0.023). Moreover, 87.6% of patients with depression also had anxiety (p < 0.001). Anxiety was associated with a history of surgery (37.2% vs. 62.4%; p = 0.003) and with the presence of chronic obstructive pulmonary disease (66.7% vs. 50.4%; p = 0.019). Conclusions The results reveal the importance of screening for anxiety-depressive disorders in patients with CRDs and taking into account psychological aspects in the management of the disease to improve quality of life.

Hydatid pulmonary embolism secondary to a right ventricular hydatid cyst: A case report.

Hydatid pulmonary embolism is an exceptional but serious condition. It complicates the rupture of a hydatid cyst in the venous return circulation, often of hepatic origin, or the endo-cavitary rupture of a hydatid cyst in the right heart. We report the case of a young patient with hydatid pulmonary embolism revealed by recurrent episodes of hemoptysis.

Thirteen Cases of Pulmonary Pneumocystis in HIV-Negative Patients.

We report 13 cases of pulmonary pneumocystis (PCP) in human immunodeficiency virus (HIV)-uninfected patients. Of eight males and five females, with a mean age of 55 years, one had breast neoplasia, two had common variable immunodeficiency (CVID), one had an autoimmune disease "Goodpasture's syndrome", and one had idiopathic fibrosis (nonspecific interstitial pneumonia/fibrosis (NIP)) undergoing prolonged corticosteroid therapy for two years, with no known immunosuppression in the remaining cases. The clinical picture was characterized by constant dyspnea and severe hypoxia in 11 cases. Lymphopenia was present in nine cases with an average rate of 920.76 elements/mm3. The diagnosis was confirmed by isolation of Pneumocystis jirovecii (PCJ) from induced sputum, except in two cases where analysis of bronchoalveolar lavage (BAL) fluid was required. With trimethoprim/sulfamethoxazole (TMP/SMX) and corticosteroid therapy, the course was favorable in all cases. Prophylactic treatment was indicated in three cases.

Hydatid pulmonary embolism underlying cardiac hydatid cysts - A case report.

Cystic hydatidosis is an endemic parasitic disease with usual localization in liver and lungs. Rarely it localizes in uncommon sites, the right ventricle being an exceptional localization. We present an extremely rare case of a young man with hydatid pulmonary embolism complicating right-ventricle hydatid cysts. Echocardiography, CT pulmonary angiogram and MR-angiography were performed for the diagnostic evaluation. Our patient did not undergo surgery. He was discharged on a regimen of albendazole, and is still being followed-up. Hydatid disease rarely presents with pulmonary embolism. It has uncharacteristic clinical features, requiring particular diagnosis and therapy.

Heterogeneous distribution of EGFR mutation in NSCLC: Case report.

Background: We herein report the case of a patient with advanced lung adenocarcinoma who presented a heterogeneous distribution of EGFR mutation. Case report: A 74-year-old Moroccan male former smoker was diagnosed with advanced lung adenocarcinoma, harboring S768I exon 20 substitution mutation confirmed by Real Time PCR and Pyrosequencing, but not detected by direct sequencing despite 70% of tumor cells. The present report describes a case of minor histologic intratumoral heterogeneity with heterogeneous distribution of EGFR mutation. Conclusion: Both sensitivity and specificity of molecular methods can provide evidence of intratumoral heterogeneity, which may explain the mismatch between the validation of oncology biomarkers and predicting therapeutic response to targeted therapy.

Correlation of Epidermal Growth Factor Receptor Mutation With Major Histologic Subtype of Lung Adenocarcinoma According to IASLC/ATS/ERS Classification.

OBJECTIVE: Our prospective study aims to define the correlation of EGFR(epidermal growth factor receptor) mutations with major histological subtypes of lung adenocarcinoma from resected and non-resected specimens, according to the WHO 2015 classification, in Moroccan North East Population. METHODS: Epidermal growth factor receptor mutations of 150 primary lung adenocarcinoma were performed using Real-Time PCR or SANGER sequencing. SPSS 21 was used to assess the relationship between histological subtypes of lung adenocarcinoma and EGFR mutation status. RESULTS: 25 mutations were detected in the series of 150 lung adenocarcinomas, most of which were found in cases with papillary, acinar, patterns than without these patterns and more frequently occurred in the cases without solid pattern than with this pattern. A significant correlation was observed between EGFR mutation and acinar (P = 0,024), papillary pattern (P = 0,003) and, negative association with a solid pattern (P < 0,001). In females, EGFR mutations were significantly correlated with the acinar pattern (P = 0,02), whereas in males with the papillary pattern (P = 0,01). Association between the histologic component and exon 19 deletions and exon 21 mutations were also evaluated and, we found a significant correlation between the papillary major pattern with exon 19 mutations (P = 0,004) and, ex21 with the acinar component (P = 0,03). CONCLUSION: An analysis of resected and non-resected lung ADC specimens in 150 Moroccan Northeast patients, revealed that acinar and papillary patterns may predict the presence of a mutation in the EGFR gene. While the solid major pattern may indicate a low mutation rate of the EGFR gene.

AB thymoma revealed by a huge intraparenchymal lung mass: a case report.

Thymoma is an epithelial neoplasm of the thymus, which commonly lies in the anterior mediastinum. Unusually it can be found in other locations as well. Ectopic thymoma rarely presents as an intrathoracic tumor. We report a case of ectopic thymoma presenting as a giant right intrathoracic tumor, the patient was 51-year-old, and who was presented with heaviness in chest and breathlessness. Detailed investigation including chest computed tomography scan revealed a well-defined large solid tumor in the right thoracic cavity, in this case, immunohistochemical analysis demonstrated a thymome AB. The tumor was metastatic to the lung. Patient received a neoadjuvant chemotherapy, with favorable evolution.

Οbstructive tracheal neοplasm: Primary tracheοbrοnchial nοn-hοdgkin lymphοma.

The trachea is an unusual site οf primary malignancy. Very few cases οf primary tracheal lymphοma with central airway οbstructiοn have been repοrted sο far. Cοmmοn cοmplaints are dyspnea and cοugh that cοuld mimic a partially refractοry asthma in sοme cases. In this article; we will present the case οf a 63-year-οld wοman diagnοsed with a tracheal lymphοma causing life-threatening airway οbstructiοn, this was cοnfirmed by brοnchοscοpy biοpsy and histοpathοlοgical exminatiοn. The mοrtality depends οn the prοgressiοn οf the disease, the οbstructiοn οf the airway. Hοwever, this entity has a gοοd prοgnοsis if diagnοsed immediately and treated with specific chemοtherapy. This case will shοw that the diagnοsis οf tracheal lymphοma shοuld be kept in mind within the differential diagnοsis οf central airway οbstructiοn.

Diffuse pulmonary ossification associated with fibrosing interstitial lung disease.

Diffuse pulmonary ossification (DPO) is a rare condition that presents with metaplastic mature bone formation in the pulmonary parenchyma. DPO is usually associated with cardiovascular or respiratory disease. We report a case of 75-year-old man with chronic dyspnea, cough, asthenia and low sputum production. A chest x-ray revealed reticular pulmonary infiltrates on both sides. Computed tomography (CT) revealed peripheral, basilar predominant reticular opacities with areas of subpleural cystic change, compatible with fibrosis, fine branching calcifications within areas of linear reticulations were also visible in both mid and lower zones. Based on the clinical presentation and CT results, the patient was diagnosed with diffuse pulmonary ossification associated with idiopathic pulmonary fibrosis. Despite its rarity, the radiologist must know suggest the diagnosis of DPO especially in the presence of idiopathic pulmonary fibrosis associated with linear branched calcified densities in areas of fibrosis, avoiding a surgical biopsy that is not stripped of risk.