Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma
Autor: | Jonna C. Benevides Demasi, Rhett P. Ketterling, Linda B. Baughn, James B. Smadbeck, Jess F. Peterson, Adam J. Guenzel, Patricia T. Greipp, Cynthia M. Williamson, Nicole L. Hoppman, Crystal L. Golden, Kathryn E. Pearce, Xinjie Xu, George Vasmatzis, Horatiu Olteanu |
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Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Adolescent Karyotype Biology DNA sequencing Translocation Genetic Pathology and Forensic Medicine 03 medical and health sciences Cytogenetics Young Adult 0302 clinical medicine immune system diseases Bone Marrow hemic and lymphatic diseases Lymphoblast Count Eosinophilia medicine Humans Enhancer Child Gene In Situ Hybridization Fluorescence Chromosomes Human Pair 14 Gene Rearrangement medicine.diagnostic_test Biopsy Needle Chromosome High-Throughput Nucleotide Sequencing General Medicine Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease Molecular biology Lymphoma Leukemia 030104 developmental biology 030220 oncology & carcinogenesis Female Interleukin-3 Fluorescence in situ hybridization |
Zdroj: | Annals of diagnostic pathology. 53 |
ISSN: | 1532-8198 |
Popis: | The t(5;14)(q31.1;q32.1) associated with B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a rare, recurrent genetic abnormality recognized as a distinct entity by the 2017 World Health Organization (WHO) classification. In these cases, the IGH enhancer region (14q32.1) is juxtaposed to the vicinity of the IL3 gene (5q31.1), resulting in increased production of interleukin-3 (IL3) and subsequently a characteristic reactive eosinophilia. B-ALL with t(5;14)(q31.1;q32.1) may have a low lymphoblast count that can complicate detection of t(5;14)(q31.1;q32.1) by conventional chromosome studies. We have identified four patients with IGH/IL3 rearrangements despite normal conventional chromosome studies in each case [one patient had a non-clonal t(5;14)(q31;q32) finding]. Fluorescence in situ hybridization utilizing a laboratory-developed IGH break-apart probe set identified IGH rearrangements in three of four cases, and a next generation sequencing (NGS) based assay, mate-pair sequencing (MPseq), was required to characterize the IGH/IL3 rearrangements in each case. Three patients demonstrated a balanced t(5;14)(q31.1;q32.1) while one patient had a cryptic insertion of the IL3 gene into the IGH region. These results demonstrate that NGS-based assays, such as MPseq, confer an advantage in the detection of IGH/IL3 rearrangements that are otherwise challenging to characterize by traditional cytogenetic methodologies. |
Databáze: | OpenAIRE |
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