A novel e8a2 BCR-ABL1 fusion with insertion of MAST2 exon 2 in a four-way translocation t (1;17;9;22) (p35;q24;q44;q11) in a patient with chronic myeloid leukemia

Riva, Eloísa; Arechavaleta, Gonzalo Manrique; Almeida, Cynthia De; Costa, Virginia; Campo, Mariana Fernandez Del; S, Gonźalez; Uriarte, Rosario

doi:10.3109/10428194.2015.1043549

Cited by 5 publications

(5 citation statements)

References 9 publications

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“…Various e8a2 BCR::ABL1 transcript variants have been reported in the literature. Many of them were singular cases showing interposed short nucleotide sequences derived from different chromosomes and genes [14][15][16]. The 55 bp ABL1 insert e8a2 BCR::ABL1 variant is of particular theoretical interest since it has been recurrently observed.…”

Section: Discussionmentioning

confidence: 99%

The Recurrent Atypical e8a2 BCR::ABL1 Transcript with Insertion of an Inverted 55 Base Pair ABL1 Intron 1b Sequence: A Detailed Molecular Analysis

Burmeister¹,

Bullinger²,

Coutre³

2023

Acta Haematol

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Atypical BCR::ABL1 transcripts are found in approximately 2% of cases of chronic myeloid leukemia. It is important to detect them since affected patients also benefit from tyrosine kinase inhibitor therapy. In the rare e8a2 atypical BCR::ABL1 transcript, two out-of-frame exons are fused, thus, interposed nucleotides are usually found at the fusion site to restore the reading frame. In approximately half of previously reported e8a2 BCR::ABL1 cases, an inserted 55 bp sequence homologous to an inverted sequence from ABL1 intron 1b was detected. The generation of this recurrent transcript variant is not obvious. This work describes the molecular analysis of such an e8a2 BCR::ABL1 translocation from a CML patient. The genomic chromosomal breakpoint is identified, and the formation of this transcript is theoretically explained. The clinical course of the patient is reported, and recommendations are provided for the molecular analysis of future e8a2 BCR::ABL1 cases.

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Section: Discussionmentioning

confidence: 99%

The Recurrent Atypical e8a2 BCR::ABL1 Transcript with Insertion of an Inverted 55 Base Pair ABL1 Intron 1b Sequence: A Detailed Molecular Analysis

Burmeister¹,

Bullinger²,

Coutre³

2023

Acta Haematol

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“…However, there were cases of good response to treatment with imatinib with an achievement of a major molecular response [ 8 , 10 , 12 ]. CML cases with this transcript that have been reported so far, additionally had insertions from ABL1 intron 1b or 1a, from BCR intron 8 or another gene such as PRDM12 , MAST2 [ 11 , 16 , 17 ]. Only one patient with CML and e8a2 BCR/ABL1 transcript had no additional insertions and after treatment with imatinib achieved a complete cytogenetic response [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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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.

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“…MAST2, as a microtubule associated kinase, plays important roles in a wide range of life activities. Previous studies have reported the role of MAST2 in evolution 12 , marfan syndrome 13 , neurodegeneration 14 , rabies virus infection 15 , nonobstructive azoospermia 16 , experimental autoimmune encephalomyelitis 17 , chronic myeloid leukemia 18 and breast cancer 4 . Our studies showed the abnormal expression and prognostic effects of MAST2 in liver cancer, which broadened the field of scientific research on MAST2.…”

Section: Discussionmentioning

confidence: 99%

“…The upregulation of MAST2 has been reported in several tumors, including esophageal cancer, pancreatic cancer, sarcomas 5 , chronic myeloid leukemia 18 and breast cancer 4 . Our results showed the overexpression of MAST2 in liver cancer.…”

Section: Discussionmentioning

confidence: 99%

High MAST2 mRNA expression and its role in diagnosis and prognosis of liver cancer

Jiao

Jiang

et al. 2019

Sci Rep

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Liver cancer is a high morbidity and low survival disease all over the world. Chromosomal instability is hallmark of liver cancer. Microtubule-associated serine and threonine kinase 2 (MAST2), as a microtubule associated protein, may involve in tumorous chromosomal instability and plays important roles in cell proliferation and survival. The role of MAST2 in liver cancer has not been well elucidated, which is the aim of our study. In this study, The Cancer Genome Atlas database was used to study the MAST2 mRNA expression in liver cancer, and Chi-squared tests were performed to test the correlation between clinical features and MAST2 expression. ROC curve was performed to examined the diagnostic capacity. The prognostic value of MAST2 in liver cancer was assessed through Kaplan–Meier curves as well as Cox analysis. Our results showed MAST2 was upregulated in liver cancer, and the area under the curve (AUC) was 0.925 and indicated powerful diagnostic capability. High MAST2 expression was associated with advanced clinical status such as histological type (p = 0.0059), histologic grade (p = 0.0142), stage (p = 0.0008), T classification (p = 0.0028), N classification (p = 0.0107), survival status (p = 0.0062), and poor prognosis of patients. Importantly, MAST2 was an independent risk factor for patients’ prognosis after adjusting for other risk factors including stage, T classification, and residual tumor. In total, MAST2 is a potential diagnostic and prognostic biomarker of liver cancer.

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A novel e8a2 BCR-ABL1 fusion with insertion of MAST2 exon 2 in a four-way translocation t (1;17;9;22) (p35;q24;q44;q11) in a patient with chronic myeloid leukemia

Cited by 5 publications

References 9 publications

The Recurrent Atypical e8a2 BCR::ABL1 Transcript with Insertion of an Inverted 55 Base Pair ABL1 Intron 1b Sequence: A Detailed Molecular Analysis

The Recurrent Atypical e8a2 BCR::ABL1 Transcript with Insertion of an Inverted 55 Base Pair ABL1 Intron 1b Sequence: A Detailed Molecular Analysis

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

High MAST2 mRNA expression and its role in diagnosis and prognosis of liver cancer

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