Simultaneous occurrence of ETV6-RUNX1 and BCR-ABL1 (e1a2) transcripts in a child with B-cell acute lymphoblastic leukemia

Balatzenko, Gueorgui; Margarita, Guenova; Kalinova, Ivelina; Belcheva, Milena; Hristozova, Hristina; Kaleva, Valeria

doi:10.1016/j.cancergen.2013.01.004

Cited by 5 publications

(3 citation statements)

References 15 publications

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“…Remission was achieved after the first induction with residual disease of 0.035% for ETV6/ RUNX1 and 0.023% for BCR/ABL1 after 12 months with no adverse events reported. 25 Using the Hyper-CVAD protocol with imatinib mesylate, our patient has achieved a morphologic and cytogenetic remission after the first induction cycle with residual undetectable BCR-ABL1/ABL and ETV6-RUNX1/GUSB of 0.16%.…”

Section: Discussionmentioning

confidence: 84%

“…The testing was via molecular analysis, as both cytogenetic and molecular cytogenetic testing were unsuccessful, and as such, it was not possible to determine which gene rearrangement was the initiating event or, indeed, whether there were 2 de novo diseases present. 25 The acquisition of a BCR-ABL1 gene rearrangement as a subclonal change suggests a role for BCR-ABL1 in clonal evolution and disease progression in these cases. The aberrant tyrosine kinase generated plays a role in cellular proliferation, and hence may result in a proliferative advantage to those leukemic cells containing the BCR-ABL1 rearrangement, 2,22 and indeed an increased resistance to the mode of treatment often used in lower-risk B-ALL, including ETV6-RUNX1-positive cases.…”

Section: Discussionmentioning

confidence: 99%

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BCR-ABL1 gene rearrangement as a subclonal change in ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia

et al. 2016

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Key Points• BCR-ABL1 rearrangement as a subclonal change in ETV6-RUNX1-positive B-ALL is a rare occurrence not previously reported.• The prognosis of this rare subclonal change has not been determined, yet inclusion of tyrosine kinase inhibitors in treatment is ubiquitous.We report here on a case of ETV6-RUNX1-positive B-cell acute lymphoblastic leukemia (B-ALL) that has acquired a BCR-ABL1 gene rearrangement as a subclonal change. The 19-year-old female patient presented with B symptoms, pancytopenia, and circulating blasts.The bone marrow aspirate was hypercellular and was infiltrated by an immature blast population that was confirmed as B-ALL by flow cytometry. Sequential fluorescent in situ hybridization was performed on the patient's leukemic cells, which were shown to contain both ETV6-RUNX1 and BCR-ABL1 gene rearrangements. The majority of nuclei (85%) showed only the ETV6-RUNX1 gene rearrangement; however, an additional 10% also showed a variant BCR-ABL1 gene rearrangement, indicating the ETV6-RUNX1 gene rearrangement was the primary change. A review of the literature has shown that acquisition of a BCR-ABL1 gene rearrangement as a secondary change in B-ALL is a very rare occurrence, and the effect it may have on prognosis is uncertain in the modern therapy age.

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

BCR-ABL1 gene rearrangement as a subclonal change in ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia

et al. 2016

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“…Interestingly, few other RUNX1 translocations have been detected in association with the BCR‐ABL1 fusion gene in de novo ALL. Indeed, the co‐expression of ETV6‐RUNX1 and BCR‐ABL1 fusion transcripts was only recently reported in one case of B‐cell ALL (Balatzenko et al, ). However, several other RUNX1 rearrangements have been described in the blastic phase of BCR‐ABL1 ‐positive chronic myeloid leukemia, including the t(3;21)(q26;q22), t(8;21)(q22;q22) and t(1;21)(p36;q22), along with one case of transformed myeloproliferative neoplasm with a FGFR1 translocation (Agerstam et al, ; Maki et al, ; Roche‐Lestienne et al, ; Solari et al, ).…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel fusion gene involving RUNX1 and the antisense strand of SV2B in a BCR‐ABL1‐positive acute leukemia

Giguère

2013

Genes Chromosomes & Cancer

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RUNX1, a key regulator of hematopoiesis, is frequently mutated or implicated in chromosomal translocations in acute leukemia. About half of RUNX1 translocations remain uncharacterized at the molecular level. We describe here one such event, a t(15;21)(q26.1;q22) translocation identified in an adult patient diagnosed with a t(9;22)(q34;q11.2)-positive acute leukemia. This previously unreported rearrangement yields a fusion of RUNX1 with the antisense strand of the SV2B gene, a new translocation partner of RUNX1, resulting in the expression of out-of-frame mRNA chimeric transcripts and the production of putative truncated RUNX1 isoforms. The t(15;21) translocation also dissociates the P1 promoter of RUNX1 from its open reading frame, reducing RUNX1 expression levels in the patient's leukemic cells. Our data suggest that RUNX1 haploinsufficiency collaborates with the BCR-ABL1 oncogene in this leukemia. The description of this atypical gene fusion is an important addition to the characterization of the pathogenomic mechanisms leading to RUNX1 structural and functional alterations. Furthermore, our data strongly suggests that inadequate dosage of this gene plays an essential role in leukemogenesis.

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Rare concomitance of ETV6::RUNX1 and BCR::ABL1p210 in a child diagnosed with B-cell precursor acute lymphoblastic leukemia

Barbosa¹,

Oliveira²,

Blunck³

et al. 2023

Cancer Genetics

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Simultaneous occurrence of ETV6-RUNX1 and BCR-ABL1 (e1a2) transcripts in a child with B-cell acute lymphoblastic leukemia

Cited by 5 publications

References 15 publications

BCR-ABL1 gene rearrangement as a subclonal change in ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia

BCR-ABL1 gene rearrangement as a subclonal change in ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia

Identification of a novel fusion gene involving RUNX1 and the antisense strand of SV2B in a BCR‐ABL1‐positive acute leukemia

Rare concomitance of ETV6::RUNX1 and BCR::ABL1p210 in a child diagnosed with B-cell precursor acute lymphoblastic leukemia

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