Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion
Background: Lipoblastoma is a benign tumor arising from embryonic white fat, commonly observed in infancy and early childhood. It manifests in two pathologically identical forms: circumscribed and diffuse. Typically, it is found in the extremities, trunk, and head and neck regions. The genetic hallm...
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Elsevier
2025-03-01
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| Series: | Human Pathology Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772736X25000015 |
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| author | Rayan Sibira Anna Vu Ryan Martinez Emilian Racila Siddhartha Sen Diana Oramas |
| author_facet | Rayan Sibira Anna Vu Ryan Martinez Emilian Racila Siddhartha Sen Diana Oramas |
| author_sort | Rayan Sibira |
| collection | DOAJ |
| description | Background: Lipoblastoma is a benign tumor arising from embryonic white fat, commonly observed in infancy and early childhood. It manifests in two pathologically identical forms: circumscribed and diffuse. Typically, it is found in the extremities, trunk, and head and neck regions. The genetic hallmark involves clonal rearrangements of the chromosomal region 8q11 > q13 (8q12). The oncogene PLAG1 (pleomorphic adenoma gene 1) is situated on band 8q12. PLAG1 gene rearrangements have been identified in various lipomatous tumors and, more recently, in a superficial spindle cell lipoma.Here, we present the case of a 54-year-old gentleman with a sizable right pleural mass, histologically characterized as a spindle cell lipomatous tumor. Immunohistochemistry revealed diffuse expression of CD34 in spindle cells, mosaic staining of RB1, diffuse positivity for p16, and patchy positivity for desmin, while adipocytes were positive for S100. Remarkably, the next-generation sequencing assay unveiled a previously unreported RUNX1T1::PLAG1 fusion, in addition to RB1 gene deletion. The patient underwent excision of the right pleural mass. Based on morphology, location, immunohistochemistry, and molecular analysis, this results confirms pleural-based (deep seated) lipomatous tumor with features of lipoblastoma and spindle cell lipoma. This case introduces a unique pleural-based lipomatous tumor with a novel PLAG1 fusion partner, associated with RB1 gene deletion, further expanding the spectrum of genetic findings within this category of lipogenic neoplasms. |
| format | Article |
| id | doaj-art-60840204830245d5b869026db60dcda1 |
| institution | Kabale University |
| issn | 2772-736X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
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| series | Human Pathology Reports |
| spelling | doaj-art-60840204830245d5b869026db60dcda12025-01-11T06:42:20ZengElsevierHuman Pathology Reports2772-736X2025-03-0139300769Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene DeletionRayan Sibira0Anna Vu1Ryan Martinez2Emilian Racila3Siddhartha Sen4Diana Oramas5Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United States; Corresponding author at: Department of Laboratory Medicine and Pathology, University of Minnesota, Mayo Memorial Building, 420 Delaware Street SEMinneapolis, MN 55455, United States.University of Minnesota Medical School, Minneapolis, MN, United StatesDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United StatesDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United StatesDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United StatesDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United StatesBackground: Lipoblastoma is a benign tumor arising from embryonic white fat, commonly observed in infancy and early childhood. It manifests in two pathologically identical forms: circumscribed and diffuse. Typically, it is found in the extremities, trunk, and head and neck regions. The genetic hallmark involves clonal rearrangements of the chromosomal region 8q11 > q13 (8q12). The oncogene PLAG1 (pleomorphic adenoma gene 1) is situated on band 8q12. PLAG1 gene rearrangements have been identified in various lipomatous tumors and, more recently, in a superficial spindle cell lipoma.Here, we present the case of a 54-year-old gentleman with a sizable right pleural mass, histologically characterized as a spindle cell lipomatous tumor. Immunohistochemistry revealed diffuse expression of CD34 in spindle cells, mosaic staining of RB1, diffuse positivity for p16, and patchy positivity for desmin, while adipocytes were positive for S100. Remarkably, the next-generation sequencing assay unveiled a previously unreported RUNX1T1::PLAG1 fusion, in addition to RB1 gene deletion. The patient underwent excision of the right pleural mass. Based on morphology, location, immunohistochemistry, and molecular analysis, this results confirms pleural-based (deep seated) lipomatous tumor with features of lipoblastoma and spindle cell lipoma. This case introduces a unique pleural-based lipomatous tumor with a novel PLAG1 fusion partner, associated with RB1 gene deletion, further expanding the spectrum of genetic findings within this category of lipogenic neoplasms.http://www.sciencedirect.com/science/article/pii/S2772736X25000015Lipomatous tumorLipoblastomaSpindle cell lipomaPleural-basedRUNX1T1PLAG1 |
| spellingShingle | Rayan Sibira Anna Vu Ryan Martinez Emilian Racila Siddhartha Sen Diana Oramas Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion Human Pathology Reports Lipomatous tumor Lipoblastoma Spindle cell lipoma Pleural-based RUNX1T1 PLAG1 |
| title | Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion |
| title_full | Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion |
| title_fullStr | Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion |
| title_full_unstemmed | Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion |
| title_short | Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion |
| title_sort | pleura based lipomatous neoplasm with runx1t1 plag1 rearrangement and rb1 gene deletion |
| topic | Lipomatous tumor Lipoblastoma Spindle cell lipoma Pleural-based RUNX1T1 PLAG1 |
| url | http://www.sciencedirect.com/science/article/pii/S2772736X25000015 |
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