Shengmei Zhou, Ryan Schmidt, Paul Zamiara, Nick Shillingford
{"title":"高级别胸膜肺恶性肿瘤与YAP1::MAML2基因融合。","authors":"Shengmei Zhou, Ryan Schmidt, Paul Zamiara, Nick Shillingford","doi":"10.1177/10935266251374255","DOIUrl":null,"url":null,"abstract":"<p><p>A 17-month-old male presented with a 4-week history of cough, and a CT scan revealed a large right intrathoracic mass with metastases to the brain and femur. Tumor biopsy demonstrated a high-grade malignant neoplasm with histological and immunostaining features most suggestive of, but not entirely typical for type III pleuropulmonary blastoma (PPB). Molecular analysis identified a <i>YAP1::MAML2</i> gene fusion and a complex copy number profile, with no mutations in <i>DICER1</i> or <i>TP53</i>. The patient initially improved with chemotherapy, but progressive brain metastases led to palliative care, and he passed away 10 months later. This is the first reported case of a <i>YAP1::MAML2</i> fusion in a pleuropulmonary neoplasm.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251374255"},"PeriodicalIF":1.3000,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"High-Grade Malignant Pleuropulmonary Neoplasm With <i>YAP1::MAML2</i> Gene Fusion.\",\"authors\":\"Shengmei Zhou, Ryan Schmidt, Paul Zamiara, Nick Shillingford\",\"doi\":\"10.1177/10935266251374255\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 17-month-old male presented with a 4-week history of cough, and a CT scan revealed a large right intrathoracic mass with metastases to the brain and femur. Tumor biopsy demonstrated a high-grade malignant neoplasm with histological and immunostaining features most suggestive of, but not entirely typical for type III pleuropulmonary blastoma (PPB). Molecular analysis identified a <i>YAP1::MAML2</i> gene fusion and a complex copy number profile, with no mutations in <i>DICER1</i> or <i>TP53</i>. The patient initially improved with chemotherapy, but progressive brain metastases led to palliative care, and he passed away 10 months later. This is the first reported case of a <i>YAP1::MAML2</i> fusion in a pleuropulmonary neoplasm.</p>\",\"PeriodicalId\":520743,\"journal\":{\"name\":\"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society\",\"volume\":\" \",\"pages\":\"10935266251374255\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-09-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/10935266251374255\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/10935266251374255","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
High-Grade Malignant Pleuropulmonary Neoplasm With YAP1::MAML2 Gene Fusion.
A 17-month-old male presented with a 4-week history of cough, and a CT scan revealed a large right intrathoracic mass with metastases to the brain and femur. Tumor biopsy demonstrated a high-grade malignant neoplasm with histological and immunostaining features most suggestive of, but not entirely typical for type III pleuropulmonary blastoma (PPB). Molecular analysis identified a YAP1::MAML2 gene fusion and a complex copy number profile, with no mutations in DICER1 or TP53. The patient initially improved with chemotherapy, but progressive brain metastases led to palliative care, and he passed away 10 months later. This is the first reported case of a YAP1::MAML2 fusion in a pleuropulmonary neoplasm.