RESUMO
BACKGROUND: Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex-deficiency have been described. CASE PRESENTATION: A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as a tumor-forming liver abscess, possibly caused by gallbladder perforation. Subsequent liver segment resection was performed. Microscopic examination showed an undifferentiated carcinoma with rhabdoid morphology and prominent inflammatory infiltrate in the gallbladder base. With SWI/SNF immunohistochemistry, intact expression of SMARCB1, SMARCA4, ARID1A, but loss of SMARCA2 and PBRM1 was detected. Next-generation-sequencing detected KRAS, PBRM1 and ARID1B mutations, a deleterious splice-site mutation in the POLE-gene and a mutation in the TP53-gene. CONCLUSIONS: We were able to demonstrate loss of SMARCA2 expression and mutations characteristic of an SWI/SNF-deficient carcinoma in a tumor derived from the gallbladder. This is the first reported case of an undifferentiated carcinoma with rhabdoid features in the gallbladder carrying a POLE mutation and SWI/SNF-deficiency of PBRM1 and SMARCA2.
Assuntos
Biomarcadores Tumorais , Proteínas Cromossômicas não Histona/deficiência , DNA Polimerase II/genética , Neoplasias da Vesícula Biliar/patologia , Mutação , Proteínas de Ligação a Poli-ADP-Ribose/genética , Tumor Rabdoide/patologia , Fatores de Transcrição/deficiência , Adulto , Biomarcadores Tumorais/deficiência , Biomarcadores Tumorais/genética , Diferenciação Celular , Análise Mutacional de DNA , Proteínas de Ligação a DNA/deficiência , Evolução Fatal , Feminino , Neoplasias da Vesícula Biliar/química , Neoplasias da Vesícula Biliar/genética , Neoplasias da Vesícula Biliar/cirurgia , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Fenótipo , Tumor Rabdoide/química , Tumor Rabdoide/genética , Tumor Rabdoide/cirurgia , Resultado do TratamentoRESUMO
INTRODUCTION: The insertion of a chest tube in cases of large pleural effusion or spontaneous pneumothorax is a common surgical procedure often performed by a physician in training under the supervision of a senior physician. CASE PRESENTATION: The authors report the case of a 35-year-old man with a persistent, complete spontaneous pneumothorax of approximately 30 hours' duration. Within 90 minutes after insertion of a chest tube, he developed severe unilateral pulmonary edema and required mechanical ventilation. FINDINGS AND CLINICAL COURSE: Computerized tomography revealed severe, unilateral pulmonary edema referred to as re-expansion pulmonary edema. After emergency endotracheal intubation and mechanical ventilation with continuous positive airway pressure, the pulmonary edema resolved completely and the patient recovered. CONCLUSION: Re-expansion edema is a rare, potentially life-threatening complication of the drainage of a spontaneous pneumothorax. With early recognition and timely treatment, complete resolution can be achieved. Risk factors include rapid re-expansion of the lung, young patient age, and a large pneumothorax persisting longer than 24 hours. If these risk factors are present, the chest tube should be inserted without primary suction. Doing so allows the lung to re-expand more slowly and may prevent this severe complication.