Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection
Abstract: Extramedullary plasmacytomas (EMPs) are exceedingly rare in children and adolescents. We describe clinical, pathological, and molecular features of 13 patients with EMP in this age group (8 males and 5 females; age 3-18 years). EMPs presented as localized disease involving the Waldeyer’s r...
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Elsevier
2025-08-01
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| Series: | Blood Advances |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2473952925003246 |
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| author | Ilske Oschlies Julia Richter Amelie Alfert Fernando Chahud Stephanie Mueller Ingrid Simonitsch-Klupp Hannah von Mersi Andishe Attarbaschi Karoline Koch Christoph Schaefers Monika Brüggemann Cecilia Bozzetti Wilhelm Woessmann Birgit Burkhardt Wolfram Klapper |
| author_facet | Ilske Oschlies Julia Richter Amelie Alfert Fernando Chahud Stephanie Mueller Ingrid Simonitsch-Klupp Hannah von Mersi Andishe Attarbaschi Karoline Koch Christoph Schaefers Monika Brüggemann Cecilia Bozzetti Wilhelm Woessmann Birgit Burkhardt Wolfram Klapper |
| author_sort | Ilske Oschlies |
| collection | DOAJ |
| description | Abstract: Extramedullary plasmacytomas (EMPs) are exceedingly rare in children and adolescents. We describe clinical, pathological, and molecular features of 13 patients with EMP in this age group (8 males and 5 females; age 3-18 years). EMPs presented as localized disease involving the Waldeyer’s ring (n = 9), larynx (n = 2), ocular adnexa (n = 1), or epipharynx and conjunctiva simultaneously (n = 1). One patient with EMP of the tonsils had a concurrent Epstein-Barr virus infection. Twelve of 13 patients with follow-up information reached sustained complete remissions after surgical resection (median follow-up, 38 months). However, local relapses were observed in 3 patients. Irradiation was applied in only 1 patient with laryngeal involvement. Histologically, sheets of mature plasma cells with light chain restriction, low proliferation, and predominant expression of immunoglobulin A (11/13 [92%]) were observed. Epstein-Barr virus, CD56, and cyclin D1 were not detected in the plasma cells. Amyloidosis confined to the lesion was observed in 1 case. Clonal, mostly productive immunoglobulin gene rearrangements with somatic hypermutation (3.3%-5.7%) were detectable in all informative cases. Fluorescence in situ hybridization revealed absence of chromosomal abnormalities associated with plasma cell neoplasia (eg, breaks in IGH, MAF, FGFR3, and copy number alterations of 1p32, 1q21, RB1, and TP53). Targeted next-generation sequencing did not reveal any somatic alterations predicted as pathogenic. We conclude that EMP in children and adolescents is a plasma cell neoplasia with low malignant potential lacking systemic dissemination, differing clinically and molecularly from adult plasma cell myeloma. |
| format | Article |
| id | doaj-art-5f1f81237f64492aa768e2a54a03b99e |
| institution | DOAJ |
| issn | 2473-9529 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Blood Advances |
| spelling | doaj-art-5f1f81237f64492aa768e2a54a03b99e2025-08-20T03:16:02ZengElsevierBlood Advances2473-95292025-08-019153909391810.1182/bloodadvances.2025016596Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resectionIlske Oschlies0Julia Richter1Amelie Alfert2Fernando Chahud3Stephanie Mueller4Ingrid Simonitsch-Klupp5Hannah von Mersi6Andishe Attarbaschi7Karoline Koch8Christoph Schaefers9Monika Brüggemann10Cecilia Bozzetti11Wilhelm Woessmann12Birgit Burkhardt13Wolfram Klapper14Hematopathology Section and Lymph Node Registry, Department of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany; Correspondence: Ilske Oschlies, Hematopathology Section and Lymph Node Registry, Department of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str 3, Haus U33, D-24105 Kiel, Germany;Hematopathology Section and Lymph Node Registry, Department of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, GermanyDepartment of Pediatric Hematology and Oncology and NHL-BFM Study Center, University Hospital Muenster, Muenster, GermanyDepartment of Pathology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, BrazilDepartment of Pediatric Hematology and Oncology and NHL-BFM Study Center, University Hospital Muenster, Muenster, GermanyDepartment of Pathology, Medical University of Vienna, Vienna, AustriaDepartment of Pediatric Hematology and Oncology, St. Anna Children’s Hospital, Medical University of Vienna, Vienna, AustriaDepartment of Pediatric Hematology and Oncology, St. Anna Children’s Hospital, Medical University of Vienna, Vienna, Austria; Department of Pediatric Hematology and Oncology, St. Anna Children’s Cancer Research Institute, Vienna, AustriaHematopathology Section and Lymph Node Registry, Department of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, GermanyDepartment of Oncology, Hematology and Stem Cell Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Hematology and Oncology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, GermanyDepartment of Hematology and Oncology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, GermanyPediatric Hematology and Oncology and NHL-BFM Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Pediatric Hematology and Oncology and NHL-BFM Study Center, University Hospital Muenster, Muenster, GermanyHematopathology Section and Lymph Node Registry, Department of Pathology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, GermanyAbstract: Extramedullary plasmacytomas (EMPs) are exceedingly rare in children and adolescents. We describe clinical, pathological, and molecular features of 13 patients with EMP in this age group (8 males and 5 females; age 3-18 years). EMPs presented as localized disease involving the Waldeyer’s ring (n = 9), larynx (n = 2), ocular adnexa (n = 1), or epipharynx and conjunctiva simultaneously (n = 1). One patient with EMP of the tonsils had a concurrent Epstein-Barr virus infection. Twelve of 13 patients with follow-up information reached sustained complete remissions after surgical resection (median follow-up, 38 months). However, local relapses were observed in 3 patients. Irradiation was applied in only 1 patient with laryngeal involvement. Histologically, sheets of mature plasma cells with light chain restriction, low proliferation, and predominant expression of immunoglobulin A (11/13 [92%]) were observed. Epstein-Barr virus, CD56, and cyclin D1 were not detected in the plasma cells. Amyloidosis confined to the lesion was observed in 1 case. Clonal, mostly productive immunoglobulin gene rearrangements with somatic hypermutation (3.3%-5.7%) were detectable in all informative cases. Fluorescence in situ hybridization revealed absence of chromosomal abnormalities associated with plasma cell neoplasia (eg, breaks in IGH, MAF, FGFR3, and copy number alterations of 1p32, 1q21, RB1, and TP53). Targeted next-generation sequencing did not reveal any somatic alterations predicted as pathogenic. We conclude that EMP in children and adolescents is a plasma cell neoplasia with low malignant potential lacking systemic dissemination, differing clinically and molecularly from adult plasma cell myeloma.http://www.sciencedirect.com/science/article/pii/S2473952925003246 |
| spellingShingle | Ilske Oschlies Julia Richter Amelie Alfert Fernando Chahud Stephanie Mueller Ingrid Simonitsch-Klupp Hannah von Mersi Andishe Attarbaschi Karoline Koch Christoph Schaefers Monika Brüggemann Cecilia Bozzetti Wilhelm Woessmann Birgit Burkhardt Wolfram Klapper Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection Blood Advances |
| title | Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection |
| title_full | Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection |
| title_fullStr | Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection |
| title_full_unstemmed | Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection |
| title_short | Extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection |
| title_sort | extramedullary plasmacytoma in children is a genetically distinct localized neoplasia curable by surgical resection |
| url | http://www.sciencedirect.com/science/article/pii/S2473952925003246 |
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