Ege Cubuk, Anindita Ghosh, Pamela E Camacho, Andrea N Marcogliese, Angshumoy Roy, Pulivarthi H Rao, Dolores H Lopez-Terrada, Jennifer Scull, Kevin E Fisher
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引用次数: 0
Abstract
Background: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm typically defined by BCR::ABL1 p210 fusions isoforms.
Observations: An 8-year-old female CML patient harbored a typical t(9;22)(q34;11) Philadelphia chromosome and BCR::ABL1 fusion by conventional karyotyping and FISH but lacked BCR::ABL1 p210 fusion transcripts by RT-PCR. Targeted next-generation sequencing (NGS) revealed BCR :: SPECC1L :: ABL1 fusion transcripts predicted to encode an in-frame BCR-exon-8::SPECC1L-exon-4::ABL1-exon-2 fusion protein retaining the tyrosine kinase domain. FISH and NGS were used for therapeutic imatinib monitoring given this atypical isoform.
Conclusions: This case highlights the role of multimodal molecular diagnostics to diagnose and monitor pediatric CML patients with atypical fusion isoforms.
期刊介绍：
Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.
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