Browsing by Subject "Burkitt lymphoma"

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    Burkitt lymphoma presenting as multifocal doughnut-shaped masses in the stomach of a patient with AIDS
    (Thieme, 2014) Sey, Michael Sai Lai; Czader, Magdalena; DeWitt, John M.
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    Improvement of diagnosis in children with Burkitt lymphoma in Kenya: feasibility study for the implementation of fluorescence in situ hybridisation testing for MYC and the MYC/IGH translocation
    (eCancer, 2023-02-08) Vance, Gail H.; Lotodo, Teresa; Kigen, Nicholas; Stohler, Ryan; Choi, Haki; Njuguna, Festus; Moormann, Ann M.; Kirwa, Erastus; Langat, Sandra; Loehrer, Patrick; Vik, Terry; Medical and Molecular Genetics, School of Medicine
    Background: Indiana University (IU) initiated fluorescence in situ hybridisation (FISH) methodology for Burkitt Lymphoma (BL) to advance the accuracy and speed of diagnosis in the AMPATH Reference Laboratory at Moi Teaching and Referral Hospital (MTRH) in Eldoret, Kenya. Standard diagnostic testing for BL at MTRH includes morphology of the biopsy specimen or aspirate and limited immunohistochemistry panels. Methods: Tumour specimens from 19 children enrolled from 2016 to 2018 in a prospective study to improve the diagnosis and staging of children with suspected BL were evaluated. Touch preps from biopsy specimens or smears from fine needle aspiration were collected, stained with Giemsa and/or H&E and reviewed by pathologists to render a provisional diagnosis. Unstained slides were stored and later processed for FISH. Duplicate slides were split between two laboratories for analysis. Flow cytometry results were available for all specimens. Results from the newly established FISH laboratory in Eldoret, Kenya were cross-validated in Indianapolis, Indiana. Results: Concordance studies found 18 of 19 (95%) of specimens studied yielded analysable FISH results for one or both probe sets (MYC and MYC/IGH) in both locations. There was 94% (17/18) concordance of results between the two FISH laboratories. FISH results were 100% concordant for the 16 specimens with a histopathological diagnosis of BL and two of three non-BL cases (one case no result in IU FISH lab). FISH was similarly concordant with flow cytometry for specimens with positive flow results with the exception of a nasopharyngeal tumour with positive flow results for CD10 and CD20 but was negative by FISH. The modal turn-around time for FISH testing on retrospective study specimens performed in Kenya ranged between 24 and 72 hours. Conclusion: FISH testing was established, and a pilot study performed, to assess the feasibility of FISH as a diagnostic tool for the determination of BL in a Kenyan paediatric population. This study supports FISH in limited resource settings to improve the accuracy and speed of diagnosis of BL in Africa.
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    Molecular characterization and clinical outcome of B-cell precursor acute lymphoblastic leukemia with IG-MYC rearrangement
    (Ferrata-Storti Foundation, 2023-03-01) Bomken, Simon; Enshaei, Amir; Schwalbe, Edward C.; Mikulasova, Aneta; Dai, Yunfeng; Zaka, Masood; Fung, Kent T. M.; Bashton, Matthew; Lim, Huezin; Jones, Lisa; Karataraki, Nefeli; Winterman, Emily; Ashby, Cody; Attarbaschi, Andishe; Bertrand, Yves; Bradtke, Jutta; Buldini, Barbara; Burke, G. A. Amos; Cazzaniga, Giovanni; Gohring, Gudrun; De Groot-Kruseman, Hesta A.; Haferlach, Claudia; Lo Nigro, Luca; Parihar, Mayur; Plesa, Adriana; Seaford, Emma; Sonneveld, Edwin; Strehl, Sabine; Van der Velden, Vincent H. J.; Rand, Vikki; Hunger, Stephen P.; Harrison, Christine J.; Bacon, Chris M.; Van Delft, Frederik W.; Loh, Mignon L.; Moppett, John; Vormoor, Josef; Walker, Brian A.; Moorman, Anthony V.; Russell, Lisa J.; Medicine, School of Medicine
    Rarely, immunophenotypically immature B-cell precursor acute lymphoblastic leukemia (BCP-ALL) carries an immunoglobulin- MYC rearrangement (IG-MYC-r). This can result in diagnostic confusion with Burkitt lymphoma/leukemia and use of individualized treatment schedules of unproven efficacy. Here we compare the molecular characteristics of these conditions and investigate historic clinical outcome data. We identified 90 cases registered in a national BCP-ALL clinical trial/registry. When present, diagnostic material underwent cytogenetic, exome, methylome and transcriptome analyses. The outcomes analyzed were 3-year event-free survival and overall survival. IG-MYC-r was identified in diverse cytogenetic backgrounds, co-existing with either established BCP-ALL-specific abnormalities (high hyperdiploidy, n=3; KMT2A-rearrangement, n=6; iAMP21, n=1; BCR-ABL1, n=1); BCL2/BCL6-rearrangements (n=15); or, most commonly, as the only defining feature (n=64). Within this final group, precursor-like V(D)J breakpoints predominated (8/9) and KRAS mutations were common (5/11). DNA methylation identified a cluster of V(D)J-rearranged cases, clearly distinct from Burkitt leukemia/lymphoma. Children with IG-MYC-r within that subgroup had a 3-year event-free survival of 47% and overall survival of 60%, representing a high-risk BCP-ALL. To develop effective management strategies this group of patients must be allowed access to contemporary, minimal residual disease-adapted, prospective clinical trial protocols.