Acute Lymphoblastic Leukaemia with an e1a3 &lt;i&gt;BCR-ABL1&lt;/i&gt; Fusion

Langabeer, Stephen E.; Haslam, Karl; Kelly, Johanna; Leahy, Martin J.; Vandenberghe, Elisabeth

doi:10.1159/000330956

Cited by 8 publications

(5 citation statements)

References 12 publications

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“…There are relatively few studies on the significance of BCR-ABL1 transcript types in ALL. Some reports have described the presence of the e1a3 transcript in ALL; however, to the best of our knowledge, this is the first report of such in a patient with SCA [ 28 , 29 ]. In addition, this is the first report from Nigeria in which cytogenetic and immunophenotype analyses were done in the diagnosis of acute leukemia in any patient with SCD.…”

Section: Discussionmentioning

confidence: 91%

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Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e1a3 BCR-ABL1 transcript in a Nigerian with sickle cell anemia: a case report

et al. 2021

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Background The occurrence of acute leukemia in patients with sickle cell anemia is uncommon. The Philadelphia chromosome is the hallmark of chronic myeloid leukemia. However, it may also be associated with acute lymphoblastic leukemia and acute myeloblastic leukemia. The common BCR-ABL1 transcripts seen in acute lymphoblastic leukemia are e1a2, e13a2, and e14a2, while other transcripts such as e1a3, e13a3, and e6a2 occur rarely. This report describes the presentation, management, and outcome of the occurrence of B-cell acute lymphoblastic leukemia with the rare e1a3 BCR-ABL1 transcript in a patient with sickle cell anemia. Case presentation A 19-year-old male Nigerian, a known sickle cell anemia patient was admitted on account of severe vaso-occlusive crisis. Examination revealed fever, palor, and jaundice. Full blood count showed anemia and leukocytosis. Peripheral blood and bone marrow smears revealed numerous large and small lymphoblasts in keeping with the L2 subtype of acute lymphoblastic leukemia based on the French–American–British classification. Further evaluation was in keeping with a diagnosis of BCR-ABL1-positive mature B-cell acute lymphoblastic leukemia associated with the rare e1a3 transcript. He was commenced simultaneously on induction chemotherapy and Imatinib while being prepared for allogeneic stem cell transplantation. However, he died six months after diagnosis from meningoencephalitis. Conclusion The occurrence of acute lymphoblastic leukemia with a rare BCR-ABL1 e1a3 transcript in association with sickle cell anemia is uncommon and associated with poor prognosis.

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Section: Discussionmentioning

confidence: 91%

“…reported this rare transcript in a 62-year-old female with Pre-B ALL who also had concomitant chemotherapy with Imatinib therapy. The patient achieved remission with fludarabine, cytarabine, G-CSF, and idarubicin, but relapsed at 18 months and died at 27 months [ 28 ]. Lopez-Andrade et al .…”

Section: Discussionmentioning

confidence: 99%

Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e1a3 BCR-ABL1 transcript in a Nigerian with sickle cell anemia: a case report

et al. 2021

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“…To our knowledge there are no myeloid blast crisis described with the e1a3 rearrangement. Deletion of the exon a2 (ABL) from the BCR-ABL fusion transcript results in a protein that lacks the N-terminal two thirds of the Src homology 3 (SH3) domain [9,16]. Several authors have already indicated that the SH3 domain of the chimeric tyrosine kinase is not necessary for the activation of intracellular signals regulating proliferation and survival (RAS, PI-3K, JNK, MAPK, STATs and c-MYC) of hematopoietic cells but it is essential for full leukemogenic potential in vivo [11,12].…”

Section: Discussionmentioning

confidence: 99%

Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis

et al. 2014

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Chronic myelogenous leukemia (CML) results from the neoplastic transformation of a hematopoietic stem cell. CML is cytogenetically characterized by the presence of the Philadelphia chromosome (Ph’). Most patients with CML express e13a2 or e14a2 mRNAs that result from a rearrangement of the major breakpoint cluster regions (M-BCR) generating the 210-kDa (p210BCR-ABL) fusion proteins b2a2 or b3a2 respectively. The e1a3 CML-related atypical translocation has been reported with an indolent clinical course, low leukocyte count, long chronic phase even without treatment and good response to therapy. We report the case of a patient initially diagnosed as CML in chronic phase whose cells expressed the e1a3 variant. The patient readily responded to imatinib 400 mg with the achievement of a rapid complete cytogenetic response and the normalization of the blood count values, but after 5 months transformed into lymphoid blast crisis.

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“…Summarized within are the variant BCR-ABL1 fusions that have been reported in Ph+ ALL to date (Table 1 (Tab. 1) ; References in Table 1: Soekarman et al, 1990[ 19 ]; Iwata et al, 1994[ 10 ]; Wilson et al, 2000[ 24 ]; Burmeister et al, 2007[ 3 ]; Fujisawa et al, 2008[ 8 ]; Langabeer et al, 2011[ 14 ]; Chen et al, 2013[ 5 ]; Shin et al, 2015[ 18 ]; Sonu et al, 2015[ 20 ]; López-Andrade et al, 2016[ 15 ]; Burmeister et al, 2007[ 3 ]; Zhang et al, 2016[ 25 ]; Kurita et al, 2016[ 13 ]; Hirota et al, 2000[ 9 ]; Burmeister et al, 2007[ 3 ]; Deshpande et al, 2016[ 7 ]; McCarron et al, 2011[ 16 ]; Kim et al, 2012[ 12 ]; Jeon et al, 2011[ 11 ]) and that result in the presence or absence of the encoded functional domains of the oncogenic BCR-ABL1 protein contributing to altered cellular adhesion, enhanced proliferation, inhibition of apoptosis and increased genomic instability of Ph+ ALL (Figure 1 (Fig. 1) ).…”

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confidence: 99%

Variant BCR-ABL1 fusion genes in adult Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia

Langabeer

2017

EXCLI Journal; 16:Doc1144; ISSN 1611-2156

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Acute Lymphoblastic Leukaemia with an e1a3 <i>BCR-ABL1</i> Fusion

Cited by 8 publications

References 12 publications

Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e1a3 BCR-ABL1 transcript in a Nigerian with sickle cell anemia: a case report

Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e1a3 BCR-ABL1 transcript in a Nigerian with sickle cell anemia: a case report

Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis

Variant BCR-ABL1 fusion genes in adult Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia

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