Nilotinib and allogeneic stem cell transplantation in a chronic myeloid leukemia patient with e6a2 and e1a2 BCR-ABL transcripts

Langabeer, Stephen E.; Crampe, Mireille; Kelly, Johanna; Fadalla, Kamal; Connaghan, G.; Conneally, Eibhlin

doi:10.1016/j.leukres.2010.02.022

Cited by 9 publications

(8 citation statements)

References 7 publications

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“…Table 1 is a summary of the clinical features of e6a2 BCRABL-positive leukemia patients described so far. Notably, co-expression of e6a2 and e1a2 transcripts was previously described in only few cases of CML [15, 16]. Here we reported the first evidence of coexpression in AML.…”

Section: Discussionsupporting

confidence: 67%

“…Despite the clinical heterogeneity, all previously reported cases and the one here reported indicate that the atypical e6a2 transcript is associated with aggressive disease and underline the potential advantage of TKIs and allo-SCT in improving prognosis of these patients [6, 14, 15, 17–20, 25]. As suggested, the poor prognosis could be attributed to the partial loss of the Guanine Exchange Factor (GEF)/dbl-like domain [26].…”

Section: Discussionmentioning

confidence: 82%

“…In conclusion, hematological malignancies with the atypical e6a2 show an aggressive phenotype with an higher capacity of transformation to blast crisis in CML. Ph + AML is more rare, but with the same worse prognosis [15]. Therapeutic options include TKIs and allo-SCT.…”

Section: Discussionmentioning

confidence: 99%

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A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review

et al. 2019

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BackgroundPhiladelphia (Ph) chromosome results from the reciprocal translocation t(9;22)(q34.1;q11.2) and is diagnostic for chronic myeloid leukemia (CML). However, this translocation is also found in acute lymphoid leukemia (ALL), as well as in rare cases of acute myeloid leukemias (AML). Most patients with CML harbor either the e13a2 or the e14a2 BCR-ABL fusion product, while a small subset of the cases expresses e1a2 or e19a2 transcripts. Moreover, several atypical BCR-ABL1 transcripts, beside the most common e1a2, e13a2 and e14a2, have been described, mainly in patients with CML. However, ALL and de novo AML may also carry BCR-ABL1 atypical transcripts which will confer a poor prognosis.Case presentationA 78-years old male was admitted at our hospital with clinical and laboratory features allowing to make the diagnosis of AML. No evidence of a preceding CML (splenomegaly or basophilia) was found. The karyotype on G-banded metaphases was 46,XY, t(9;22)(q34;q11). While the molecular analysis was ongoing, the patient started treatment based on hydroxyurea followed by 5-aza-2′-deoxycytidine. The molecular biology analysis revealed the simultaneous presence of the common p190 e1a2 and the rare e6a2 isoforms. Because of persistent pancytopenia and presence of blasts, according to the molecular data, he was then switched to tyrosine kinase inhibitors (TKIs) treatment. Nevertheless, after 2 months, the patient was still refractory to second line treatment dying because of a pulmonary infection.ConclusionThe atypical p190 e6a2 transcript seems to be associated in AML with aggressive disease. TKI therapy alone does not seem to control the disease. Prompt observations on these patients carrying rare BCR-ABL1 transcripts may help to establish optimal treatment approaches on these aggressive BCR-ABL1 phenotypes in different setting of patients.

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 82%

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A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review

et al. 2019

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“… Dasatinib: effective on subsequent myeloid sarcoma Death from hematemesis 9 Vefring [7] 48/M CML-CP e6a2 Imatinib, CDA, αIFN, ASCT Disease progression Hematologic remission after ASCT Alive at 62 mo. 10 Langabeer [8] 36/M CML-CP e6a2, e1a2 Imatinib, nilotinib, ASCT Imatinib: progression to AP with clonal evolution Complete molecular remission Alive at 28 mo. Nilotinib: complete cytogenetic remission 11 Hayette [9] 64/F CMML e6a2 (acquired) Imatinib Reduction of BCR/ABL transcript after 3 months NR Alive at 3 mo.…”

mentioning

confidence: 99%

“…CML with BCR-ABL1 e6a2 fusion transcript appears to be associated with more aggressive clinical features, including accelerated/blastic phase on presentation [5] , [7] , rapid disease progression [1] , [3] , [8] , and imatinib treatment failure [1] , [7] , [8] . Their response to TKI treatment is variable ( Table 1 ).…”

mentioning

confidence: 99%

A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia

Yao

Douer

Wang

et al. 2017

Leukemia Research Reports

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Philadelphia (Ph) chromosome is a cytogenetic hallmark of chronic myeloid leukemia (CML). Most patients with CML harbor either the e13a2 or e14a2 BCR-ABL fusion product, while a small subset of the cases expresses e1a2 or e19a2 transcripts. We report a patient with chronic myelomonocytic leukemia (CMML), initially Ph chromosome negative at presentation, with rapid disease progression to acute myeloid leukemia (AML) and appearance of Ph chromosome and BCR-ABL e6a2, a very uncommon fusion transcript. The AML was refractory to treatment with subsequent emergence and dominance of a Ph negative leukemic clone. The patient expired shortly after disease progression.

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CML with e6a2 BCR-ABL1 transcript: an aggressive entity?

Beel

Lemmens

Vranckx³

et al. 2011

Ann Hematol

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Nilotinib and allogeneic stem cell transplantation in a chronic myeloid leukemia patient with e6a2 and e1a2 BCR-ABL transcripts

Cited by 9 publications

References 7 publications

A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review

A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review

A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia

CML with e6a2 BCR-ABL1 transcript: an aggressive entity?

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