PMID- 35167621 OWN - NLM STAT- MEDLINE DCOM- 20220224 LR - 20220224 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 17 IP - 2 DP - 2022 TI - Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature. PG - e0263980 LID - 10.1371/journal.pone.0263980 [doi] LID - e0263980 AB - 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. FAU - Woroniecka, Renata AU - Woroniecka R AUID- ORCID: 0000-0003-2531-2775 AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Rymkiewicz, Grzegorz AU - Rymkiewicz G AD - Department of Pathology and Laboratory Diagnostics, Flow Cytometry Laboratory, Maria Sklodowska - Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Szafron, Lukasz M AU - Szafron LM AUID- ORCID: 0000-0003-1670-0274 AD - Department of Cancer Biology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Blachnio, Katarzyna AU - Blachnio K AD - Department of Pathology and Laboratory Diagnostics, Flow Cytometry Laboratory, Maria Sklodowska - Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Szafron, Laura A AU - Szafron LA AD - Department of Cancer Biology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Bystydzienski, Zbigniew AU - Bystydzienski Z AD - Department of Pathology and Laboratory Diagnostics, Flow Cytometry Laboratory, Maria Sklodowska - Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Pienkowska-Grela, Barbara AU - Pienkowska-Grela B AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Borkowska, Klaudia AU - Borkowska K AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Rygier, Jolanta AU - Rygier J AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Kotyl, Aleksandra AU - Kotyl A AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Malawska, Natalia AU - Malawska N AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Wojtkowska, Katarzyna AU - Wojtkowska K AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Parada, Joanna AU - Parada J AD - Department of Cancer Biology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Borysiuk, Anita AU - Borysiuk A AD - Department of Pathology and Laboratory Diagnostics, Flow Cytometry Laboratory, Maria Sklodowska - Curie National Research Institute of Oncology, Warsaw, Poland. FAU - Murcia Pienkowski, Victor AU - Murcia Pienkowski V AD - Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. FAU - Rydzanicz, Malgorzata AU - Rydzanicz M AD - Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. FAU - Grygalewicz, Beata AU - Grygalewicz B AD - Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20220215 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - 0 (MYC protein, human) RN - 0 (Proto-Oncogene Proteins c-myc) SB - IM MH - Adult MH - Aged MH - Biopsy, Fine-Needle MH - Burkitt Lymphoma/genetics/*pathology MH - Child MH - Child, Preschool MH - Chromosome Breakpoints MH - Female MH - High-Throughput Nucleotide Sequencing MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping/*methods MH - Male MH - Middle Aged MH - *Mutagenesis, Insertional MH - Proto-Oncogene Proteins c-myc/*genetics MH - Sequence Analysis, DNA/*methods MH - Young Adult PMC - PMC8846522 COIS- The authors have declared that no competing interests exist. EDAT- 2022/02/16 06:00 MHDA- 2022/02/25 06:00 PMCR- 2022/02/15 CRDT- 2022/02/15 17:14 PHST- 2021/09/03 00:00 [received] PHST- 2022/02/01 00:00 [accepted] PHST- 2022/02/15 17:14 [entrez] PHST- 2022/02/16 06:00 [pubmed] PHST- 2022/02/25 06:00 [medline] PHST- 2022/02/15 00:00 [pmc-release] AID - PONE-D-21-27800 [pii] AID - 10.1371/journal.pone.0263980 [doi] PST - epublish SO - PLoS One. 2022 Feb 15;17(2):e0263980. doi: 10.1371/journal.pone.0263980. eCollection 2022.