t(9;22) as secondary alteration in core‐binding factor <i>de novo</i> acute myeloid leukemia

Vitale, Candida; Lu, Xinyan; Abderrahman, Balkees; Takahashi, Koichi; Ravandi, Farhad; Jabbour, Elias

doi:10.1002/ajh.24143

Cited by 7 publications

(6 citation statements)

References 10 publications

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“…Regarding the outcome of this favorable subgroup of patients with BCR-ABL 1 AML, it is surprising that many of these patients were long-term survivors, although they had been treated with chemotherapy 6 TKI alone (without allogeneic stem cell transplantation). 5,[8][9][10] These data clearly suggest that the presence of BCR-ABL did not alter the overall favorable outcome in these subgroups ( In this patient cohort, which was in part recently published, 13 a 2-year overall survival of 34% was observed. Interestingly, the survival did not substantially differ between patients achieving a CR before HSCT and patients who did not (34.7% vs 33.5%; Figure 1).…”

supporting

confidence: 56%

BCR-ABL + acute myeloid leukemia: are we always dealing with a high-risk disease?

et al. 2018

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BCR-ABL 1 acute myeloid leukemia (AML) has recently been listed in the 2016 revised World Health Organization (WHO) classification of myeloid malignancies as a provisional entity. 1 BCR-ABL 1 AML comprises a group of de novo AML in patients without evidence of an underlying chronic myeloid leukemia (CML) and without cooccurring aberrations such as CEBPA, NPM1, inv(16), and inv(3) that would lead to the classification as "AML with recurrent genetic aberrations." Although there is some overlap between BCR-ABL 1 AML, myeloid CML blast crisis, and BCR-ABL 1 mixed phenotype acute leukemia, no definite criteria have yet been defined to distinguish among these entities. However, a loss of IKZF1 and CDKN2A as well as cryptic deletions in IGH and TRG genes have recently been reported in BCR-ABL 1 AML and seem to be absent in myeloid blast crisis of CML. Therefore, these additional molecular markers may be helpful for differential diagnosis in clinically difficult situations. 2

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supporting

confidence: 56%

BCR-ABL + acute myeloid leukemia: are we always dealing with a high-risk disease?

et al. 2018

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“…In this context, secondary BCR::ABL1 fusion could act as a late cooperating event within the multi-step pathogenesis. It may also arise from de novo AML, in which CBFB::MYH11, GATA2::MECOM, KMT2A::AFDN, PML::RARA, or RUNX1::RUNX1T1 are rearranged at diagnosis [20][21][22][23][24][25][26][27]. Secondary BCR::ABL1 fusion has also been found to occur in AML after treatment with an FLT3 inhibitor [28,29].…”

Section: Discussionmentioning

confidence: 99%

Deciphering Potential Molecular Signatures to Differentiate Acute Myeloid Leukemia (AML) with BCR::ABL1 from Chronic Myeloid Leukemia (CML) in Blast Crisis

Boucher,

Sorel,

Desterke

et al. 2023

IJMS

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Acute myeloid leukemia (AML) with BCR::ABL1 has recently been recognized as a distinct subtype in international classifications. Distinguishing it from myeloid blast crisis chronic myeloid leukemia (BC-CML) without evidence of a chronic phase (CP), remains challenging. We aimed to better characterize this entity by integrating clonal architecture analysis, mutational landscape assessment, and gene expression profiling. We analyzed a large retrospective cohort study including CML and AML patients. Two AML patients harboring a BCR::ABL1 fusion were included in the study. We identified BCR::ABL1 fusion as a primary event in one patient and a secondary one in the other. AML-specific variants were identified in both. Real-time RT-PCR experiments demonstrated that CD25 mRNA is overexpressed in advanced-phase CML compared to AML. Unsupervised principal component analysis showed that AML harboring a BCR::ABL1 fusion was clustered within AML. An AML vs. myeloid BC-CML differential expression signature was highlighted, and while ID4 (inhibitor of DNA binding 4) mRNA appears undetectable in most myeloid BC-CML samples, low levels are detected in AML samples. Therefore, CD25 and ID4 mRNA expression might differentiate AML with BCR::ABL1 from BC-CML and assign it to the AML group. A method for identifying this new WHO entity is then proposed. Finally, the hypothesis of AML with BCR::ABL1 arising from driver mutations on a BCR::ABL1 background behaving as a clonal hematopoiesis mutation is discussed. Validation of our data in larger cohorts and basic research are needed to better understand the molecular and cellular aspects of AML with a BCR::ABL1 entity.

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“…In none of these patients a mutation in KIT was reported, although further molecular testing was reported in only seven of these patients. [12][13][14] Additionally, six cases with co-occurrence of t(9,22) and inv (16) were identified by the Munich Leukemia Laboratory. In two, mutations in KIT exon 8 were excluded, while no further mutation analyses were performed in the remaining cases.…”

Section: Cbfb-myh11_a Nilotinibmentioning

confidence: 99%

“…To assess the prevalence of our observations, we performed a systematic search for published cases and revealed 65 cases with co‐occurrence of t(9;22) and inv(16)/t(16;16) (Table S6). In none of these patients a mutation in KIT was reported, although further molecular testing was reported in only seven of these patients 12–14 . Additionally, six cases with co‐occurrence of t(9,22) and inv(16) were identified by the Munich Leukemia Laboratory.…”

Section: Figurementioning

confidence: 99%

Blastic transformation of BCR‐ABL1 positive chronic myeloid leukaemia through acquisition of CBFB‐MYH11 and mutant KIT

et al. 2020

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Blastic transformation of BCR-ABL1 positive chronic myeloid leukaemia through acquisition of CBFB-MYH11 and mutant KIT Chromosomal aberrations in addition to BCR-ABL1 at diagnosis of chronic myeloid leukaemia (CML) in chronic phase (CP-CML) occur in~5-12% of patients. 1-3 Progression to blast phase (BP) is accompanied by genetic evolution with concomitant resistance to tyrosine kinase inhibitor (TKI) treatment. 3 Among aberrations described in BP-CML but very rarely in CP-CML is the acute myeloid leukaemia (AML) defining inv(16)/t(16;16) leading to CBFB-MYH11. 4 CBFB-MYH11-positive AML is associated with mutations in exons 8 or 17 of the KIT gene, which occur in~30% of patients and likely confer an adverse prognosis. 5 We report a patient with BCR-ABL1_p210-positive CP-CML with co-occurrence of CBFB-MYH11_A at initial diagnosis, which progressed to myeloid BP-CML under treatment with nilotinib after acquiring three different in-frame indel mutations in exon 8 of KIT.

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t(9;22) as secondary alteration in core‐binding factor de novo acute myeloid leukemia

Cited by 7 publications

References 10 publications

BCR-ABL + acute myeloid leukemia: are we always dealing with a high-risk disease?

BCR-ABL + acute myeloid leukemia: are we always dealing with a high-risk disease?

Deciphering Potential Molecular Signatures to Differentiate Acute Myeloid Leukemia (AML) with BCR::ABL1 from Chronic Myeloid Leukemia (CML) in Blast Crisis

Blastic transformation of BCR‐ABL1 positive chronic myeloid leukaemia through acquisition of CBFB‐MYH11 and mutant KIT

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