Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant
We describe a 5-year-old boy who initially presented with a large left renal mass, suspected to be Wilms tumor (WT). However, biopsy results revealed B-cell lymphoblastic lymphoma (B-LBL) manifesting as an isolated renal mass. Tumor transcriptome analysis identified an EWSR1::FLI1 fusion, with break...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1569506/full |
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| author | Katelyn P. Daniels Kim E. Nichols Arti S. Pandey Gabriela Gheorghe Sara Helmig Kevin Garrett Asim K. Bag Hiroto Inaba Raul Ribeiro |
| author_facet | Katelyn P. Daniels Kim E. Nichols Arti S. Pandey Gabriela Gheorghe Sara Helmig Kevin Garrett Asim K. Bag Hiroto Inaba Raul Ribeiro |
| author_sort | Katelyn P. Daniels |
| collection | DOAJ |
| description | We describe a 5-year-old boy who initially presented with a large left renal mass, suspected to be Wilms tumor (WT). However, biopsy results revealed B-cell lymphoblastic lymphoma (B-LBL) manifesting as an isolated renal mass. Tumor transcriptome analysis identified an EWSR1::FLI1 fusion, with breakpoints distinct from those typically associated with Ewing's sarcoma. Other somatic pathogenic variants affecting WT1, ETV6, SETD2, ADD2, EZH2, PRDM2, and NF2 were identified. The patient also carried a germline CHEK2 variant of unknown significance, raising concerns for cancer predisposition. Given the unusual clinical presentation, somatic and germline genetic findings, and impossibility of measuring early response to therapy, the classical treatment of lymphoblastic lymphoma was modified. To minimize exposure to agents that increase DNA breakage, blinatumomab was used for consolidation. This approach led to significant tumor regression and the patient remains in remission for eight months post-diagnosis. This case underscores the importance of precise diagnosis, comprehensive somatic and germline genetic evaluation, and adapted treatment in pediatric oncology. |
| format | Article |
| id | doaj-art-6b957d8ef9be48c6b91df4f30c6e04e1 |
| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-6b957d8ef9be48c6b91df4f30c6e04e12025-08-20T03:23:16ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-06-011310.3389/fped.2025.15695061569506Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variantKatelyn P. Daniels0Kim E. Nichols1Arti S. Pandey2Gabriela Gheorghe3Sara Helmig4Kevin Garrett5Asim K. Bag6Hiroto Inaba7Raul Ribeiro8Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Pathology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Radiology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Radiology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesDepartment of Oncology, St. Jude Children’s Research Hospital, Memphis, TN, United StatesWe describe a 5-year-old boy who initially presented with a large left renal mass, suspected to be Wilms tumor (WT). However, biopsy results revealed B-cell lymphoblastic lymphoma (B-LBL) manifesting as an isolated renal mass. Tumor transcriptome analysis identified an EWSR1::FLI1 fusion, with breakpoints distinct from those typically associated with Ewing's sarcoma. Other somatic pathogenic variants affecting WT1, ETV6, SETD2, ADD2, EZH2, PRDM2, and NF2 were identified. The patient also carried a germline CHEK2 variant of unknown significance, raising concerns for cancer predisposition. Given the unusual clinical presentation, somatic and germline genetic findings, and impossibility of measuring early response to therapy, the classical treatment of lymphoblastic lymphoma was modified. To minimize exposure to agents that increase DNA breakage, blinatumomab was used for consolidation. This approach led to significant tumor regression and the patient remains in remission for eight months post-diagnosis. This case underscores the importance of precise diagnosis, comprehensive somatic and germline genetic evaluation, and adapted treatment in pediatric oncology.https://www.frontiersin.org/articles/10.3389/fped.2025.1569506/fullB lymphoblastic lymphomarenal massEWSR1::FLI1 translocationCHEK2Wilms tumor |
| spellingShingle | Katelyn P. Daniels Kim E. Nichols Arti S. Pandey Gabriela Gheorghe Sara Helmig Kevin Garrett Asim K. Bag Hiroto Inaba Raul Ribeiro Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant Frontiers in Pediatrics B lymphoblastic lymphoma renal mass EWSR1::FLI1 translocation CHEK2 Wilms tumor |
| title | Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant |
| title_full | Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant |
| title_fullStr | Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant |
| title_full_unstemmed | Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant |
| title_short | Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant |
| title_sort | case report a rare pediatric case of b cell lymphoblastic lymphoma presenting as an isolated renal mass with ewsr1 fli1 translocation and germline chek2 variant |
| topic | B lymphoblastic lymphoma renal mass EWSR1::FLI1 translocation CHEK2 Wilms tumor |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1569506/full |
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