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Case Reports
. 2024 Sep;38(9):2037-2040.
doi: 10.1038/s41375-024-02327-2. Epub 2024 Jul 4.

Treatment-free remission after third-line therapy with asciminib in chronic myeloid leukemia with an atypical e19a2 BCR::ABL1 transcript and T315I mutation

Philipp Ernst  1 , Jenny Rinke  1 , Georg-Nikolaus Franke  2 , Frank Dicker  3 , Torsten Haferlach  3 , Thomas Ernst  1 , Andreas Hochhaus  4
Affiliations
Case Reports

Treatment-free remission after third-line therapy with asciminib in chronic myeloid leukemia with an atypical e19a2 BCR::ABL1 transcript and T315I mutation

Philipp Ernst et al. Leukemia. 2024 Sep.
No abstract available

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Conflict of interest statement

PE, JR, GNF, TE, and AH received support from Novartis through the European Treatment and Outcome Study (EUTOS) for CML. AH received research support from Novartis, BMS, Pfizer, Incyte, Enliven, and TERNS and is Editor-in-Chief of the journal LEUKEMIA. TH declares equity ownership. FD is employed by the MLL. GNF received fees and travel support from Novartis and served on scientific boards for Incyte. PE received fees for consulting services from Pfizer.

Figures

Fig. 1
Fig. 1. Bone marrow aspirate (May Gruenwald–Giemsa stain) and qualitative multiplex PCR for BCR::ABL1 transcripts [14] at diagnosis in November 2011.
(a) Bone marrow shows hypercellularity with maturing myelopoiesis and increased basophil and eosinophil granulocytes consistent with CML in chronic phase, scale bar = 10 µm. (b) Qualitative multiplex PCR revealed in lane 5 the atypical transcript e19a2 of the patient (925 bp). BCR bands (808 bp) are internal positive controls in lanes 1 to 5. L- ladder (HSD1000 tapestation). M—DNA free master mix; lane 1—negative control; lane 2—SD1 cell line (BCR::ABL1 transcript e1a2, 481 bp); lane 3—K562 cell line (BCR::ABL1 transcript e14a2, 385 bp); lane 4—BV173 cell line (BCR::ABL1 transcript e13a2, 310 bp); marker—upper and lower tapestation marker.
Fig. 2
Fig. 2. Base sequence of BCR::ABL1 e19a2 transcript of the patient (exemplary excerpt) and course of individual molecular response (IMR).
(a) Following Sanger sequencing of the e19a2 transcript, the forward primer E19A2F (5′-GGA GGA GGT GGG CAT CTA CCG-3′) and the conventional reverse primer ENR561 (5′-CAC TCA GAC CCT GAG GCT CAA-3′) with the ENP541 (5′-CCC TTC AGC GGC CAG TAG CAT CTGA-3′) probe were used for MRD analysis by RT-qPCR. (b) To calculate the individual molecular response (IMR), log reduction during treatment with asciminib was determined by comparison to the ratio BCR::ABL1/GUSB [4]. ENP European network TaqMan probe, ENR European network reverse primer, Bcr breakpoint cluster region, Abl Abelson murine leukemia viral oncogene homolog; GUSB - beta-glucuronidase; TFR treatment-free remission.
See this image and copyright information in PMC

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