Second Report of PDE10A-BRAF Fusion in Pediatric Spindle Cell Sarcoma With Infantile Fibrosarcoma-Like Morphology Suggesting PDE10A-BRAF Fusion Is a Recurrent Event
| Autor: | Janos Sumegi, Julia A. Bridge, Brianna N Smith, Daniel J. Benedetti, Hernan Correa, Caitlin Hughes |
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| Rok vydání: | 2021 |
| Předmět: |
Proto-Oncogene Proteins B-raf
0301 basic medicine Pathology medicine.medical_specialty Myeloid Oncogene Proteins Fusion Congenital Mesoblastic Nephroma Fibrosarcoma Chromosomal translocation Article Pathology and Forensic Medicine Fusion gene 03 medical and health sciences 0302 clinical medicine medicine Humans Receptor trkC Nephroma Mesoblastic Child Proto-Oncogene Proteins c-ets Phosphoric Diester Hydrolases business.industry Sarcoma General Medicine medicine.disease Kidney Neoplasms Repressor Proteins 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Spindle cell sarcoma Infantile Fibrosarcoma business Secretory Breast Carcinoma |
| Zdroj: | Pediatr Dev Pathol |
| ISSN: | 1615-5742 1093-5266 |
| DOI: | 10.1177/10935266211012186 |
| Popis: | Infantile/congenital fibrosarcoma (IFS) is the most common soft tissue tumor in children less than one year of age. The most common anatomic site of IFS is in the extremities or trunk, and rarely in the abdomen or retroperitoneum. Approximately 70-90% of cases are characterized by a distinct t(12;15)(p13;q25) translocation resulting in an ETV6-NTRK3 gene fusion. As such, TRK inhibitors are considered frontline therapy in TRK-fusion positive IFS. The ETV6-NTRK3 fusion is also detected in congenital mesoblastic nephroma (CMN) and less frequently in myeloid leukemias, secretory breast carcinoma, and mammary-type secretory carcinoma of the skin and salivary glands. Infrequently, cases of tumors with IFS-like morphology without the characteristic ETV6-NTRK3 gene fusion have been identified. Herein, an ETV6-NTRK3 fusion negative spindle cell sarcoma with IFS-like morphology subjected to genomic profiling revealed a PDE10A-BRAF fusion, a fusion event that has been detected previously in an isolated case of undifferentiated infantile sarcoma. |
| Databáze: | OpenAIRE |
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