The e19a2 BCR/ABL fusion transcript with additional chromosomal aberrations on a new case of chronic myeloid leukemia (CML) of mild type

Bertorelle, Roberta; Bonaldi, Laura; Bianchini, E; Ramazzina, Emilio; Mistro, Annarosa Del; Zamboni, S; Chieco‐Bianchi, Luigi; Paolini, Rossella

doi:10.1038/sj.leu.2402292

Cited by 5 publications

(2 citation statements)

References 11 publications

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“…Rare cases of variant BCR-ABL mRNAs have been reported in which the fusion occurs between BCR exon e13 or e14 and ABL exon 3, i.e., e13a3 or e14a3, or between other BCR exons such as e1 (m-BCR) or e19 (m-BCR), and ABL exon 3 or 2, i.e., e1a3 or e19a2 [1][2][3][4][5][6][7][8]. ABL exon 2 codes for a portion of the Src homology (SH) 3 domain, which has been shown to have inhibitory effects on the ABL tyrosine kinase.…”

Section: Introductionmentioning

confidence: 99%

Chronic myeloid leukemia with an e13a3 BCR‐ABL fusion: Benign course responsive to imatinib with an RT‐PCR advisory

et al. 2004

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A case of a patient with chronic myeloid leukemia whose cells expressed an e13a3 (b2a3) variant BCR-ABL p210 mRNA is presented. The variant splice was detected by a qualitative reverse transcriptase polymerase chain reaction using primers complementary to BCR exon 13 (b2) and ABL exon 3 (a3). The patient responded well to imatinib and achieved a complete cytogenetic response. Am. J. Hematol. 75:92-95, 2004.

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Section: Introductionmentioning

confidence: 99%

Chronic myeloid leukemia with an e13a3 BCR‐ABL fusion: Benign course responsive to imatinib with an RT‐PCR advisory

et al. 2004

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“…Among typical CML, chronic phase CML presents with significant basophilia, marked splenomegaly, and elevation of circulating immature granulocytes [5]. Atypical CML with thrombocytosis (>1,000×10 9 /L) presents as low WBC count, high platelet count, and mild or absent splenomegaly, having a clinical course featuring ET [6]. The present case was a typical CML in the chronic phase, but lacked marked splenomegaly and monocytosis.…”

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confidence: 93%

Concurrence of e1a2 and e19a2 BCR-ABL1 Fusion Transcripts in a Typical Case of Chronic Myeloid Leukemia

et al. 2017

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First and second line imatinib treatment in chronic myelogenous leukemia patients expressing rare e1a2 or e19a2 BCR–ABL transcripts

Andrikovics¹,

Nahajevszky²,

Szilvási³

et al. 2007

Hematological Oncology

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During the formation of the Philadelphia (Ph) chromosome, in the majority of chronic myelogenous leukemia (CML) patients, the chromosome 22 breakpoint is located in the major breakpoint cluster region of the BCR gene (M-bcr). Minor and micro breakpoint cluster regions (m-bcr with e1a2 transcript and micro-bcr with e19a2 transcript) are rarely affected and have been suggested to be associated with peculiar CML phenotypes. Despite the different clinical characteristics, it is currently not established, whether different therapeutic options are preferably recommended for the treatment of e1a2 or e19a2 CML. Here we report two patients with e1a2 and one patient with e19a2 translocations, treated with different approaches including imatinib. First and second line imatinib treatments induced haematologic response in all of the three patients, and major cytogenetic response in one patient with e1a2, as well as in the patient with e19a2 CML. However, relapse occurred in the patient with e19a2 CML, possibly caused by the presence of additional chromosomal abnormalities such as an extra Ph chromosome, and loss of chromosome Y. Stem cell transplantation (SCT) therapy caused complete haematologic response with molecular remission; however, the patient died of infectious complication. We conclude that in patients with rare BCR-ABL variants, the effectiveness of imatininb treatment may be influenced by the CML stage besides the actual molecular type of the rare transcript. However, this conclusion cannot be generalized to larger patient groups with rare BCR-ABL variants for which further studies may be needed.

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The e19a2 BCR/ABL fusion transcript with additional chromosomal aberrations on a new case of chronic myeloid leukemia (CML) of mild type

Cited by 5 publications

References 11 publications

Chronic myeloid leukemia with an e13a3 BCR‐ABL fusion: Benign course responsive to imatinib with an RT‐PCR advisory

Chronic myeloid leukemia with an e13a3 BCR‐ABL fusion: Benign course responsive to imatinib with an RT‐PCR advisory

Concurrence of e1a2 and e19a2 BCR-ABL1 Fusion Transcripts in a Typical Case of Chronic Myeloid Leukemia

First and second line imatinib treatment in chronic myelogenous leukemia patients expressing rare e1a2 or e19a2 BCR–ABL transcripts

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