A Rare BCR::SPECC1L::ABL1 Fusion in a Pediatric Chronic Myeloid Leukemia Patient.
Ege Cubuk, Anindita Ghosh, Pamela E Camacho et al.
✦ AI-curated · Sources linked
Case in brief
An 8-year-old girl diagnosed with chronic myeloid leukemia (CML) presented with a typical Philadelphia chromosome and BCR::ABL1 fusion identified through karyotyping and FISH. However, she did not have detectable BCR::ABL1 p210 fusion transcripts via RT-PCR. Targeted next-generation sequencing revealed a rare BCR::SPECC1L::ABL1 fusion, which retains the tyrosine kinase domain, allowing for effective monitoring of her treatment with imatinib.
What made this case unusual
The identification of a BCR::SPECC1L::ABL1 fusion in a pediatric CML patient, which is atypical compared to the more common BCR::ABL1 p210 fusion, made this case noteworthy.
Diagnostic / clinical pearl
Clinicians should consider multimodal molecular diagnostics, including NGS, for accurate diagnosis and monitoring of pediatric CML patients with atypical fusion isoforms.
Why it matters
This case underscores the importance of advanced genetic testing in identifying rare fusion transcripts that may impact treatment strategies in pediatric CML.