Translational pediatrics · 2025
Case report: diagnostic challenges and long-term survival of a child with bronchial mucoepidermoid carcinoma.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Lan Bui Ngoc, Anh Nguyen Hoai, Diep Pho Hong, Chuong Le Thanh, Linh Nguyen Van, An Vu Van, Khoi Nguyen Ngoc, Truong Nguyen Ly Thinh, Anh Nguyen Tho, Ninh Tran Phan, Santiago Teresa, Furtado Larissa, Rodriguez-Galindo Carlos
Аннотация
BACKGROUND: Bronchial mucoepidermoid carcinoma (MEC) is a rare pediatric malignant neoplasm of difficult diagnosis.
CASE DESCRIPTION: We report on the case of a 15-year-old patient who presented with cough, fever, left chest pain, and difficulty breathing. A chest computed tomography (CT) scan revealed collapse of the left lung with a solid mass with poorly defined margins located close to the left lung hilum, and another smaller enhancing solid nodule located adjacent to the aortic arch. Biopsy of the lesion revealed a malignant epithelial neoplasm with clear cell morphology, overexpression of TFE3 by immunohistochemistry (IHC), but without TFE3 rearrangement by fluorescence in situ hybridization (FISH) analysis. Transcriptome [RNA sequencing (RNA-seq)] analysis of the specimen was positive for CRTC3::MAML2 fusion transcript, and a diagnosis of bronchial MEC was made. The patient received three courses of PLADO (cisplatin and doxorubicin) and three surgeries to remove the tumor completely and is currently in remission for 5 years off therapy.
CONCLUSIONS: Clinical presentation of bronchial MEC is similar to that of other pulmonary neoplasms. In our challenging case, the identification of CRTC3::MAML2 fusion was essential for diagnosis. The successful outcome in this case was made possible by the coordinated efforts of multiple specialties and close consultation for advanced molecular tests.
CASE DESCRIPTION: We report on the case of a 15-year-old patient who presented with cough, fever, left chest pain, and difficulty breathing. A chest computed tomography (CT) scan revealed collapse of the left lung with a solid mass with poorly defined margins located close to the left lung hilum, and another smaller enhancing solid nodule located adjacent to the aortic arch. Biopsy of the lesion revealed a malignant epithelial neoplasm with clear cell morphology, overexpression of TFE3 by immunohistochemistry (IHC), but without TFE3 rearrangement by fluorescence in situ hybridization (FISH) analysis. Transcriptome [RNA sequencing (RNA-seq)] analysis of the specimen was positive for CRTC3::MAML2 fusion transcript, and a diagnosis of bronchial MEC was made. The patient received three courses of PLADO (cisplatin and doxorubicin) and three surgeries to remove the tumor completely and is currently in remission for 5 years off therapy.
CONCLUSIONS: Clinical presentation of bronchial MEC is similar to that of other pulmonary neoplasms. In our challenging case, the identification of CRTC3::MAML2 fusion was essential for diagnosis. The successful outcome in this case was made possible by the coordinated efforts of multiple specialties and close consultation for advanced molecular tests.