Acute promyelocytic leukemia with <em>PML/RARA</em> (bcr1, bcr2 and bcr3) transcripts in a pediatric patient

Santana-Hernández,Jennifer; Santana-Hernández,Jennifer; Corona-Rivera,Alfredo; Corona-Rivera,Alfredo; Mendoza-Maldonado,Lucero; Mendoza-Maldonado,Lucero; Santana-Bejarano,Uriel Francisco; Santana-Bejarano,Uriel Francisco; Cuero-Quezada,Idalid; Cuero-Quezada,Idalid; Marquez-Mora,Aurea; Marquez-Mora,Aurea; Serafín-Saucedo,Graciela; Serafín-Saucedo,Graciela; Brukman-Jiménez,Sinhue Alejandro; Brukman-Jiménez,Sinhue Alejandro; Corona-Rivera,Román; Corona-Rivera,Román; Ortuño-Sahagún,Daniel; Ortuño-Sahagún,Daniel; Cruz-Osorio,Rosa Margarita; Cruz-Osorio,Rosa Margarita; Sánchez-Zubieta,Fernando Antonio; Sánchez-Zubieta,Fernando Antonio; Bobadilla-Morales,Lucina; Bobadilla-Morales,Lucina

doi:10.3892/ol.2024.14246

Acute promyelocytic leukemia with PML/RARA (bcr1, bcr2 and bcr3) transcripts in a pediatric patient

Authors:
- Jennifer Santana-Hernández
- Alfredo Corona-Rivera
- Lucero Mendoza-Maldonado
- Uriel Francisco Santana-Bejarano
- Idalid Cuero-Quezada
- Aurea Marquez-Mora
- Graciela Serafín-Saucedo
- Sinhue Alejandro Brukman-Jiménez
- Román Corona-Rivera
- Daniel Ortuño-Sahagún
- Rosa Margarita Cruz-Osorio
- Fernando Antonio Sánchez-Zubieta
- Lucina Bobadilla-Morales
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Affiliations: Department of Molecular Biology and Genomics, Human Genetics Institute ‘Dr. Enrique Corona-Rivera’, University of Guadalajara, Guadalajara, Jalisco 44340, Mexico, Cytogenetics Unit, Civil Hospital of Guadalajara, Guadalajara, Jalisco 44340, Mexico, Molecular Neuroimmunobiology Laboratory, Biomedical Sciences Research Institute, University of Guadalajara, Guadalajara, Jalisco 44340, Mexico, Oncohematology Service, Pediatric Division, Civil Hospital of Guadalajara, Guadalajara, Jalisco 44340, Mexico
Published online on: January 22, 2024 https://doi.org/10.3892/ol.2024.14246
Article Number: 114
Copyright: © Santana-Hernández et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Patients with acute promyelocytic leukemia (APL) exhibit the t(15;17)(q24.1;q21.2) translocation that produces the promyelocytic leukemia (PML)/retinoic acid receptor α (RARA) fusion gene. Different PML breakpoints yield three alternative molecular transcripts, bcr1, bcr2 and bcr3. The present study reports the simultaneous presence of three PML/RARA transcripts in a pediatric female patient diagnosed with APL, according to the clinical characteristics, immunophenotype and karyotype of the patient. The simultaneous presence of the PML/RARA transcripts were detected using reverse transcription‑quantitative PCR (RT‑qPCR). This was confirmed with HemaVision‑28N Multiplex RT‑qPCR, HemaVision‑28Q qualitative RT‑qPCR and the AmpliSeq RNA Myeloid Panel. To the best of our knowledge, the pediatric patient described in the present study is the first case found to exhibit all three PML/RARA transcripts (bcr1, bcr2 and bcr3). Additionally, a microarray analysis was performed to determine the expression profile, potential predictive biomarkers and the implications of this uncommon finding. According to the information obtained from molecular monitoring, the results reported in the present study were associated with a good patient prognosis. In addition, upregulated genes that are rare in acute myeloid leukemia were identified, and these genes may be promising diagnostic biomarkers for further study. For example, CCL‑1 is present in leukemic stem cells, causing treatment failure and relapse, and α‑ and β‑defensins have been reported exclusively in chronic myeloid leukemia. However, the results of the present study confirmed that they may also be present in APL. Thus, these findings suggested a possible signaling pathway that involves the PML/RARA oncoprotein in APL.

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