Three Novel Aberrations Involving PLAG1 Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement
| Autor: | Miguel A. Guzman, Guoliang Wang, Jacqueline R. Batanian |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0303 health sciences
medicine.medical_specialty Breakpoint Cytogenetics Chromosome Chromosomal translocation Chromosomal rearrangement Biology medicine.disease 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis Genetics Cancer research medicine Neoplasm Lipoblastoma Molecular Biology Gene Genetics (clinical) 030304 developmental biology |
| Zdroj: | Cytogenetic and Genome Research. 159:81-87 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | Lipoblastoma is a rare benign neoplasm with overlapping histology with other lipomatous tumors. Genetic aberrations including translocations of 8q and splitting of the PLAG1 probe leading to “promoter swapping” and gains of chromosome 8 or PLAG1 foci have been described in lipoblastoma. Here, we report 3 lipoblastomas revealing novel genetic aberrations involving PLAG1: a high level of PLAG1 amplification up to 50 copies in a 4-year-old girl with recurrence of a right flank mass, a partial deletion of PLAG1 with the flanking junction breakpoints involving the 3′PLAG1 and 5′HAS2 genes in a 17-month-old boy with a retroperitoneal mass, and an insertion of 2q31 into 8q11.2 and translocation of 8q to 2q with the latter translocated onto 12q leading to separation of the PLAG1 FISH probe in a 5-year-old girl with a left back mass. Our novel cytogenetic findings further expand the mechanisms of PLAG1 transcriptional upregulation in lipoblastoma pathogenesis. |
| Databáze: | OpenAIRE |
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