Antineoplastics/granulocyte colony stimulating factors
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Relapse of acute myeloid leukaemia and no therapeutic improvement: case report A 59-year-old man developed relapse of acute myeloid leukaemia (AML) following treatment with cytarabine, daunorubicin, idarubicin, mitoxantrone and aclarubicin for AML. Additionally, he exhibited no therapeutic improvement with cytarabine, aclarubicin and unspecified granulocyte colony stimulating factor for AML [routes and dosages not stated]. The man had been diagnosed with AML along with eosinophilia and hospitalised in August 2008. His AML harboured CBFBMYH11 fusion. He started receiving chemotherapy with IA regimen, comprising idarubicin and cytarabine [Ara-C] followed by three courses of consolidation therapy with mitoxantrone and cytarabine (MA regimen), daunorubicin and cytarabine (DA regimen) and aclarubicin and cytarabine (AA regimen). He achieved a complete remission. However, after 3 years, he developed relapse of AML. A bone marrow aspiration showed predominant monoblastic leukaemia cells and an increased population of immature erythroid cells showing dysplastic morphology. The relapsed leukemia blasts showed complex chromosomal aberrations. A real-time polymerase chain reaction did not detect the CBFB-MYH11 fusion. A cytogenetic analysis of the bone marrow cells showed the following karyotype: 44,XY,–3,der(5)t(5;17)(q11.2;q11.2)ins(5;?)(q11.2;?),–6,–14,–17,+mar1,+mar2[1]/43,idem,–7,–18,–21,+der(?) t(?;7)(?;q11.2),+mar3[4]/44,idem,der(7;14)(q10;q10),–21,+mar3,+mar4 [sic.]. Single nucleotide variants (SNV) analysis from RNA-sequencing data showed alteration of p53 G245S, that occurred at relapse with an allele frequency of 93.5%. Furthermore, NOTCH1 Q1134R and other SNVs with high pathogenic scores were common in both initial as well as relapsed leukaemia. On the basis of all these findings, he was diagnosed with therapy-related AML. Based on the pre-leukaemic clones harboring pathogenic SNVs, it was thought that TP53 mutation caused the therapy-related AML. The man was treated with salvage therapy of CAG regimen, comprising cytarabine, aclarubicin and unspecified granulocyte colony stimulating factor. However, his condition did not improve. Finally, he died of pneumonia and progression of leukaemia. He was found to have harbored a novel variant Runt-related transcription factor 1 (RUNX1) fusion gene resulting from a cryptic rearrangement between 6q16 and 21q22, which yielded a truncated form of RUNX1 that enhanced the sensitivity of leukaemia cells to granulocyte colony-stimulating factor. Abe A, et al. Truncated RUNX1 Generated by the Fusion of RUNX1 to Antisense GRIK2 via a Cryptic Chromosome Translocation Enhances Sensitivity to Granulocyte 803506312 Colony-Stimulating Factor. Cytogenetic and Genome Research 160: 255-263, No. 5, 2020. Available from: URL: http://doi.org/10.1159/000508012
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Reactions 10 Oct 2020 No. 1825
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