ABSTRACT
Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant, pediatric brain tumor typically arising de novo. Inactivation of SMARCB1 is a defining molecular event. We present here a rare case of an adult (35 years) low-grade SMARCB1-deleted brain tumor with transition into prototypical AT/RT over 14 years. Molecular analysis was performed for 3 tumor presentations including copy number analysis, DNA methylation analysis (450k), and whole exome sequencing. We detected the identical somatic SMARCB1 deletion at all 3 time-points. In an unsupervised hierarchical clustering of methylation data together with 127 reference cases comprising 9 brain tumor classes all 3 manifestations clustered with AT/RT. Exome sequencing revealed an increase of mutational burden over time. The acquired mutations and additional copy number changes did not affect known cancer genes. In conclusion, we demonstrate molecular changes associated with histological and clinical transition of a low-grade brain tumor to an adult AT/RT. Our observation of a stable disease course for nearly 10 years in a tumor with SMARCB1 loss and an AT/RT-like DNA methylation profile indicates that caution may be required in the diagnostic interpretation of such findings in adult patients.
Subject(s)
Brain Neoplasms/genetics , Rhabdoid Tumor/genetics , SMARCB1 Protein/genetics , Sequence Deletion/genetics , Teratoma/genetics , Adult , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/pathology , Cerebral Cortex/metabolism , Cerebral Cortex/pathology , DNA Methylation/genetics , DNA Mutational Analysis , Humans , Longitudinal Studies , Male , Phosphopyruvate Hydratase/metabolism , Rhabdoid Tumor/diagnostic imaging , Rhabdoid Tumor/pathology , Teratoma/diagnostic imaging , Teratoma/pathology , Tomography Scanners, X-Ray ComputedABSTRACT
A case with chronic necrotizing pulmonary aspergillosis that was mimicking the radiomorphology of malignant tumor was reported. The patient was admitted to hospital with progression of a left upper lobe infiltrate which was known and under regular observation for 8 years, and haemoptoe. Computer tomography scan showed a spiculated abnormality in the left upper lobe with mediastinal lymphadenomegaly. Based on this finding pulmonary malignancy was suspected and, therefore, the patient was referred to surgical intervention. The post surgical histology revealed aspergillus in the specimen. Since signs of vascular invasion could not be detected microscopically and the disease developed in immunocompromised patient (due to diabetes mellitus and long term steroid treatment) the clinical condition was determined as chronic necrotizing aspergillosis. It is very likely that the pathogen infected the patient during his daily work in a bakery. The present paper also summarizes the clinical aspects, differential diagnosis and therapy of different forms of pulmonary aspergillosis with emphasis on chronic necrotizing pulmonary aspergillosis.
Subject(s)
Aspergillosis/diagnosis , Immunocompromised Host , Lung Diseases, Fungal/diagnosis , Adrenal Cortex Hormones/administration & dosage , Adrenal Cortex Hormones/adverse effects , Antifungal Agents/therapeutic use , Aspergillosis/drug therapy , Chronic Disease , Diabetes Mellitus, Type 2/complications , Diagnosis, Differential , Humans , Lung Diseases, Fungal/classification , Lung Diseases, Fungal/drug therapy , Male , Middle Aged , Occupational Exposure/adverse effects , Prognosis , Risk FactorsABSTRACT
The authors performed thoracotomies on 47 patients because of NSCLC between 1 January 2000 and 31 December 2003. All patients had neoadjuvant therapy which was indicated by IIIA stage NSCLC with N2 nodal status. After the neoadjuvant therapy almost all tumors (92.7%) became resectable. The combinations of therapy types, the operations type and the surgical complications are analysed. Long term outcome proves, that multimodal therapy of NSCLC (in IIIA stage) is an effective treatment method.
