MOLECULAR ANALYSES AND AN INNOVATIVE DIAGNOSTIC ALGORITHM IN <i>MYC</i>‐NEGATIVE BURKITT‐LIKE LYMPHOMA WITH 11Q ABERRATION: A SINGLE INSTITUTION EXPERIENCE

Rymkiewicz, Grzegorz; Zajdel, Michalina; Paziewska, Agnieszka; Błachnio, Katarzyna; Grygalewicz, Beata; Woroniecka, Renata; Dabrowska, Magdalena; Bystydzieński, Zbigniew; Romejko‐Jarosińska, Joanna; Kulecka, Maria; Kulińczak, Mariusz; Sromek, Maria; Rygier, Jolanta; Borysiuk, Anita; Pieńkowska-Grela, Barbara; Czyz-Domanska, Katarzyna; Miłoszewska, Joanna; Szafron, Lukasz; Prochorec‐Sobieszek, Monika; Walewski, Jan; Ostrowski, Jerzy; Siwicki, Jan Konrad; Chechlińska, Magdalena

doi:10.1002/hon.4_2630

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“…In the remaining 22/108 patients, FISH (20/108) or CC (2/108) were carried out. Some of the HP, FCM, molecular, and clinical data of these patients have been published previously [ 6 , 7 , 21 , 27 ]. Routine FISH analysis with MYC BAP, BCL2 BAP, and BCL6 BAP probes, performed in 106/108 patients, demonstrated a lack of BCL2 and BCL6 rearrangements in all cases and confirmed MYC R in 94/108 patients.…”

Section: Resultsmentioning

confidence: 99%

“…In the present study, we describe two BL cases with MYC insertion, which were found during routine diagnostics for 108 patients with suspBL. At our institution, in all cases of clinically suspected BL/BLL,11q or HP/IHC-confirmed BL/BLL,11q, attempts are made to perform FNAB for further diagnostic tests [ 7 , 27 ]. The high diagnostic accuracy and effectiveness of FNAB/FCM in BL/BLL,11q have been presented before [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

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Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature

et al. 2022

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The occurrence of MYC-negative Burkitt lymphoma (BL) has been discussed for many years. The real frequency of the MYC insertion in MYC-negative BL is still unknown. Fine-needle aspiration biopsies of 108 consecutive patients with clinicopathologically suspected BL (suspBL) were evaluated by flow cytometry, classical cytogenetics, and fluorescence in situ hybridization (FISH). We found 12 cases (11%) without the MYC rearrangement by FISH with a MYC breakapart probe: two patients (1.9%) with cryptic MYC/IGH fusion (finally diagnosed as BL) and 10 patients (9.3%) with 11q gain/loss (finally diagnosed as Burkitt-like lymphoma with 11q aberration). The exact breakpoints of the cryptic MYC/IGH were investigated by next-generation sequencing. The MYC insertions’ breakpoints were identified in PVT1 in the first case, and 42 kb upstream of 5′MYC in the second case. To date, a molecular characterization of the MYC insertion in BL has only been reported in one case. Detailed descriptions of our MYC insertions in a routinely and consecutively diagnosed suspBL cohort will contribute to resolving the issue of MYC negativity in BL. In our opinion, the presence of the MYC insertions in BL and other lymphomas might be underestimated, because routine genetic diagnostics are usually based on FISH only, without karyotyping.

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