Burkitt Lymphoma

Their diagnosis requires careful consideration to accurately distinguish rare indolent entities, recently defined large B‑cell lymphomas, and reactive mimics. Recent classifications, including the newly introduced WHO Classification of Pediatric Tumors, increasingly reflect these unique aspects.

P=N/A, N=153, Active, not recruiting, City of Hope Medical Center | Trial completion date: Dec 2025 --> Dec 2026

An improved diagnostic algorithm based on the combined use of FISH and NGS methods makes it possible to increase the accuracy of identification of genetic subtypes of aggressive B-cell lymphomas in children. This helps to categorize the diagnosis based on the molecular and genetic characteristics of the tumor, paving the way for improved prognosis and treatment effectiveness.

Immunohistochemical analysis revealed positivity for B-cell markers (CD20, CD79α, etc.), with MYC expression in approximately 80% of cells, fluorescence in situ hybridization staining showed positivity for MYC translocation and molecular testing confirmed IG rearrangement. The diagnosis of Burkitt's lymphoma is based on its distinctive histological morphology in combination with immunohistochemistry and molecular testing.

This case underscores the importance of recognizing atypical presentations of Burkitt's lymphoma, such as skull base involvement and hearing loss. A high index of suspicion and a multimodal diagnostic approach (imaging and histopathology) were crucial for accurate diagnosis. Early identification of such rare presentations is vital to initiate prompt, appropriate therapy and improve patient outcomes.

The patient responded to chemotherapy and remains in remission under follow-up. In conclusion, this case expands the phenotypic spectrum of hypomorphic RAG1 variants to include EBV-negative Burkitt lymphoma without overt immunodeficiency, suggesting a possible link between partial RAG1 dysfunction and pediatric lymphoma susceptibility.

The treatment was well tolerated, with a notable reduction in the cardiac mass and no cardiovascular complications associated with treatment during monitoring of the patient. A literature review was conducted to identify all the documented cases of adult cardiac BL of the past 15 years, outlining the low prevalence and high risk of these lymphoid tumors and main diagnostic methods, highlighting the importance of early imaging and multidisciplinary management of these rare but life-threatening cases.

This latter result may be relevant to the occasional misdiagnosis of lymphoma for ovarian epithelial carcinoma. In sum, the results justify a more detailed study of the role of EBV and the anti-EBV immune response in the ovarian cancer and lymphoma settings.

Although a definitive causal relationship cannot be established, hematologic malignancies in pediatric HME patients appear to be disproportionately represented among reported cases. This finding highlights the need for further investigation through large-scale, population-based studies incorporating both clinical and genetic data.

P1/2, N=276, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2025 --> Dec 2027 | Trial primary completion date: Dec 2025 --> Dec 2027

P2, N=18, Recruiting, University of Washington | Not yet recruiting --> Recruiting

P1/2, N=50, Not yet recruiting, National Cancer Institute (NCI) | Initiation date: Dec 2025 --> Mar 2026