Treatment and outcome of IG-MYC+ neoplasms with precursor B-cell phenotype in childhood and adolescence

Herbrueggen, Heidi; Mueller, Stephanie; Rohde, Jonas; Padilla, Laura; Moericke, Anja; Attarbaschi, Andishe; Zimmermann, Martin; Ratei, Richard; Brueggemann, Monika; Siebert, Reiner; Goehring, Gudrun; Schlegelberger, Brigitte; Bradtke, Jutta; Klapper, Wolfram; Woessmann, Willi; Burkhardt, Birgit

doi:10.1038/s41375-019-0606-6

Cited by 8 publications

(23 citation statements)

References 14 publications

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“…The blast immunophenotypes reported in these publica- rather than ALL, despite the biological similarities to BCP-ALL. 12 In this study, all four patients treated with BL-type chemotherapy, and three of five patients treated with high-risk ALL-type chemotherapy, are alive without disease (Table 1; Figure 1; Supporting Information Table S2). Further, in our literature survey, 10 of 12 patients treated with BL-type chemotherapy were alive without disease; however, two of four patients initially treated with ALL-type chemotherapy died of disease (Table 3).…”

Section: Treatments and Outcomesmentioning

confidence: 68%

“…Wagener et al and Herbrueggen et al reported that BL with IG-MYC rearrangement displaying a BCP immunophenotype, which they termed pre-BLL, has biological similarities to BCP-ALL. 12,13 They described pre-BLL blasts as having genetic abnormalities similar to BCP-ALL, such as aberrant VDJ recombination and/or activating NRAS and/or KRAS mutations. We also identified ten patients with BCP-ALL carrying 8q24/MYC-r in this study.…”

Section: Discussionmentioning

confidence: 99%

“…Of these, two patients lacking flow‐cytometric analysis data on surface κ or λ immunoglobulins, and four patients without 8q24/ MYC ‐r detection at initial diagnosis, were excluded from our analysis. Therefore, 26 patients whose karyotype data and immunophenotyping data diagnostic for BCP‐ALL were complete and available were analyzed 2,4,12,14‐21 (Table 3). The blast immunophenotypes reported in these publications were similar to those of our patients, except for positivity for TdT expression (positive TdT expression: 12/17 vs 2/7 in our cohort), although we cannot explain this discrepancy.…”

Section: Discussionmentioning

confidence: 99%

“…A standard chemotherapeutic regimen for BCP‐ALL with 8q24/ MYC ‐r has yet to be established, whereas the outcomes of children and adolescents with preBLL described by Herbrueggen et al. appeared to be favorable when treated with regimens used for mature B‐cell NHL, rather than ALL, despite the biological similarities to BCP‐ALL 12 . In this study, all four patients treated with BL‐type chemotherapy, and three of five patients treated with high‐risk ALL‐type chemotherapy, are alive without disease (Table 1; Figure 1; Supporting Information Table S2).…”

Section: Discussionmentioning

confidence: 99%

“…patients whose karyotype data and immunophenotyping data diagnostic for BCP-ALL were complete and available were analyzed 2,4,12,[14][15][16][17][18][19][20][21] ( Table 3). The blast immunophenotypes reported in these publications were similar to those of our patients, except for positivity [23][24][25] By contrast, the standard treatment for ALL is long-term chemotherapy that comprises three phases: induction, consolidation, and maintenance.…”

Section: Discussionmentioning

confidence: 99%

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Nationwide study of pediatric B‐cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan

Sakaguchi

Imamura

Ishimaru

et al. 2020

Pediatric Blood & Cancer

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Background: Rearrangements of chromosome 8q24/MYC (8q24/MYC-r), resulting from t(8;14)(q24;q32), t(2;8)(p11;q24), or t(8;22)(q24;q11), are mainly associated with Burkitt lymphoma/leukemia (BL) and rarely observed in patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The characteristics of BCP-ALL with 8q24/MYC-r are poorly understood.Procedure: A retrospective nationwide study of data from patients with pediatric BCP-ALL with 8q24/MYC-r in Japan was conducted to clarify the clinical and biological characteristics associated with 8q24/MYC-r BCP-ALL.Results: Ten patients with BCP-ALL with 8q24/MYC-r, including three with double-hit leukemia (DHL) (two with t(8;14)(q24;q32) and t(14;18)(q32;q21) and one with t(8;14) and t(3;22)(q27;q11)), were identified. Patients with BCP-ALL with 8q24/MYC-r had higher median age and uric acid and lactate dehydrogenase levels, than those without 8q24/MYC-r. All patients were initially treated with ALL-type chemotherapy; however, four, including one with DHL, were switched to BL-type chemotherapy, based on cytogenetic findings. One patient relapsed after standard-risk ALL-type chemotherapy, and two patients with DHL did not attain complete remission with chemotherapy; all three died within 11 months. The other seven patients treated with BL-type or high-risk ALL-type chemotherapy are alive without disease. Conclusions: The clinical and laboratory features of BL with IG-MYC rearrangement, displaying a BCP immunophenotype (Wagener et al. and Herbrueggen et al. termed it as pre-BLL), are similar to those of BCP-ALL with 8q24/MYC-r. Low-risk ALL-type chemotherapy may not be appropriate for them, and further studies are required to establish an adequate therapeutic strategy. Further studies of DHL to identify new treatment strategies are also needed. K E Y W O R D S 8q24/MYC rearrangement, B-cell precursor acute lymphoblastic leukemia, Burkitt lymphoma/leukemia, double-hit lymphoma/leukemia, immunophenotype

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Section: Treatments and Outcomesmentioning

confidence: 68%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Nationwide study of pediatric B‐cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan

Sakaguchi

Imamura

Ishimaru

et al. 2020

Pediatric Blood & Cancer

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Genetic features of precursor B‐cell phenotype Burkitt leukemia with IGH‐MYC rearrangement

et al. 2021

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Background: An atypical form of Burkitt leukemia/lymphoma (BL), BL with a phenotype of precursor B-cells (preBLL), is listed in the WHO Classification. Recent reports suggested that preBLL and classical BL could be distinguished by the differences in IG-MYC translocation architecture and an additional mutated genes profile. The characteristics of classical BL are IG-MYC by aberrant somatic hypermutation or class switch recombination, and BL-specific gene mutations such as MYC, ID3, and CCND3.Meanwhile, preBLL is characterized by IG-MYC due to aberrant VDJ recombination and mutations in NRAS and KRAS. However, it is not clear whether all preBLL cases can be differentiated. This report investigated the molecular characteristics of an infant preBLL case, with a more advanced stage of maturity than typical preBLL. Case:The patient showed BL-like morphology with IGH-MYC rearrangement. In the immunophenotyping, CD20 and surface immunoglobulin were negative, whereas other markers were consistent with BL. To evaluate the genetic contribution, we performed whole-exome sequencing. The breakpoint analysis revealed the IG-MYC occurred due to an aberrant VDJ recombination. Meanwhile, additional somatic mutations were detected in FBXO11, one of the mutant genes specific to BL. In the analysis of the specimen in complete remission, mutation in KRAS, frequently mutated in preBLL, was detected with low frequency, suggesting somatic mosaicism. Conclusion:The present case showed the characteristics of both typical preBLL and classical BL. Because preBLL includes atypical cases such as the present case, further studies are required to elucidate preBLL features.

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Diagnosis and management of lymphoblastic lymphoma in children, adolescents and young adults

Temple

Mueller

Hermiston

et al. 2023

Best Practice & Research Clinical Haematology

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Treatment and outcome of IG-MYC+ neoplasms with precursor B-cell phenotype in childhood and adolescence

Cited by 8 publications

References 14 publications

Nationwide study of pediatric B‐cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan

Nationwide study of pediatric B‐cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan

Genetic features of precursor B‐cell phenotype Burkitt leukemia with IGH‐MYC rearrangement

Diagnosis and management of lymphoblastic lymphoma in children, adolescents and young adults

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