Pediatric T-cell lymphoblastic lymphoma with t(9;17)(q34;q23)-associated N-terminally truncated NOTCH1 activation: a case report.
Ayako Yamamori, Daichi Sajiki, Yusuke Tsumura et al.
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Case in brief
A 6-year-old boy presented with T-cell lymphoblastic lymphoma (T-LBL). Testing identified a t(9;17)(q34;q23) translocation producing a MIR142HG::NOTCH1 fusion and a truncated, constitutively active NOTCH1 protein. His disease followed an aggressive course, and he died shortly after cord blood transplantation.
What made this case unusual
The structural NOTCH1 rearrangement generated an N-terminally truncated, constitutively active protein, unlike the point mutations or small indels commonly described in T-LBL.
Diagnostic / clinical pearl
In T-LBL, structural NOTCH1 rearrangements can produce truncated, constitutively active NOTCH1; identifying the alteration may be relevant to understanding disease biology and potential therapeutic targets.
Why it matters
The authors’ literature review suggests that 9q34 translocations in T-LBL may be associated with poor prognosis, although the clinical impact of structural NOTCH1 rearrangements remains poorly understood.