DOI: 10.1097/mph.0000000000003259 ISSN: 1077-4114

A Rare BCR::SPECC1L::ABL1 Fusion in a Pediatric Chronic Myeloid Leukemia Patient

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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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.

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