دورية أكاديمية
Conjoined Genes as Common Events in Childhood Acute Lymphoblastic Leukemia
| العنوان: | Conjoined Genes as Common Events in Childhood Acute Lymphoblastic Leukemia |
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| المؤلفون: | Severgnini, Marco, D'Angiò, Mariella, Bungaro, Silvia, Cazzaniga, Giovanni, Cifola, Ingrid, Fazio, Grazia |
| المساهمون: | Severgnini, M, D'Angiò, M, Bungaro, S, Cazzaniga, G, Cifola, I, Fazio, G |
| بيانات النشر: | MDPI AG CH |
| سنة النشر: | 2022 |
| المجموعة: | Università degli Studi di Milano-Bicocca: BOA (Bicocca Open Archive) |
| مصطلحات موضوعية: | childhood BCP-ALL, conjoined gene, fusion, RNA-seq |
| الوصف: | Acute lymphoblastic leukemia (ALL) is the most frequent childhood cancer. For the last three decades, conventional cytogenetic and molecular approaches allowed the identification of genetic abnormalities having prognostic and therapeutic relevance. Although the current cure rate in pediatric B cell acute leukemia is approximately 90%, it remains one of the leading causes of mortality in childhood. Furthermore, in the contemporary protocols, chemotherapy intensity was raised to the maximal levels of tolerability, and further improvements in the outcome will depend on the characterization and reclassification of the disease, as well as on the development of new targeted drugs. The recent technological advances in genome-wide profiling techniques have allowed the exploration of the molecular heterogeneity of this disease, even though some potentially interesting biomarkers such as conjoined genes have not been deeply investigated yet. In the present study, we performed the transcriptome sequencing (RNA-seq) of 10 pediatric B cell precursor (BCP)-ALL cases with different risk (four standard- and six high-risk patients) enrolled in the Italian AIEOP-BFM ALL2000 protocol, in order to characterize the full spectrum of transcriptional events and to identify novel potential genetic mechanisms sustaining their different early response to therapy. Total RNA was extracted from primary leukemic blasts and RNA-seq was performed by Illumina technology. Bioinformatics analysis focused on fusion transcripts, originated from either inter- or intra-chromosomal structural rearrangements. Starting from a raw list of 9001 candidate events, by employing a custom-made bioinformatics pipeline, we obtained a short list of 245 candidate fusions. Among them, 10 events were compatible with chromosomal translocations. Strikingly, 235/245 events were intra-chromosomal fusions, 229 of which involved two contiguous or overlapping genes, resulting in the so-called conjoined genes (CGs). To explore the specificity of these events in leukemia, we ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/35884588; info:eu-repo/semantics/altIdentifier/wos/WOS:000831912500001; volume:14; issue:14; journal:CANCERS; http://hdl.handle.net/10281/389765Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137225377 |
| DOI: | 10.3390/cancers14143523 |
| الإتاحة: | https://doi.org/10.3390/cancers14143523Test http://hdl.handle.net/10281/389765Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.A049A196 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/cancers14143523 |
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