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Case Reports
. 2022 Feb 5;15(1):20.
doi: 10.1186/s12920-022-01169-0.

A case report of pediatric acute lymphoblastic leukemia with e8a2 BCR/ABL1 fusion transcript

Aleksandra Mroczkowska  1 , Bożena Jaźwiec  2   3 , Justyna Urbańska-Rakus  4 , Sylwia Szymanowska  2 , Anna Tessmann  2 , Sonia Pająk  4 , Katarzyna Machnik  4 , Olga Haus  5 , Tomasz Wróbel  3
Affiliations
Case Reports

A case report of pediatric acute lymphoblastic leukemia with e8a2 BCR/ABL1 fusion transcript

Aleksandra Mroczkowska et al. BMC Med Genomics. .

Abstract

Background: Acute lymphoblastic leukemia is the most common type of cancer in children. Most often it affects the age group between 2 and 5 years of age. Studies have shown an improvement in general survivability, more than 90% 5-year overall survival (OS). Current treatment protocols for acute lymphoblastic leukemia require verification of the presence of favorable and unfavorable genetic abnormalities, which help qualify patients to the appropriate risk group and select a more suitable treatment. The presence of the BCR/ABL1 fusion gene stratifies the patient into a high-risk group and requires special treatment with tyrosine kinase inhibitors (TKI). The three dominant mRNA transcripts are e1a2, e13a2, and e14a2. Nevertheless, cases of atypical BCR/ABL1 transcripts have also been reported.

Case presentation: This paper presents the case of a pediatric patient with Ph + B-cell precursor acute lymphoblastic leukemia with rare atypical e8a2 BCR/ABL1 fusion transcript. Our patient achieved complete remission after 33 days of treatment. Molecular and cytogenetic studies in TP1 did not reveal the presence of the BCR/ABL1 transcript. The PCR-MRD test in TP1b was negative, the patient did not require hematopoietic stem cell transplantation.

Conclusion: Genetic evaluation of the bone marrow sample is crucial in the initial stage of the diagnosis. Fluorescent in situ hybridization and reverse transcriptase polymerase chain reaction with Sanger sequencing are the appropriate methods used in the detection of rare variants of BCR/ABL1 transcripts.

Keywords: Acute lymphoblastic leukemia; BCR/ABL1; Case report; FISH; RT-PCR; e8a2.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
A—Conventional G-banding karyotype analysis showing typical translocation between chromosome 9 and 22. B—FISH analysis on interphase and metaphase with LSI BCR/ABL1 Dual Color, Dual Fusion Translocation Probe
Fig. 2
Fig. 2
A—Detection of e8a2 BCR/ABL1 transcript by RT-PCR. Lane 1: size marker; lane 2: patient sample; lane 3: negative control, lane 4: internal reference gene—ABL1. B—Sanger sequencing demonstrating the direct junction between BCR exon e8 and ABL1 exon a2
Fig. 3
Fig. 3
A—FISH study on day 33 of treatment, B—RT-PCR test on day 33 of treatment. Lane 1: size marker; lane 2: positive control; lane 3: patient; lane 4: negative control, lane 5: internal reference gene—ABL1
See this image and copyright information in PMC

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