Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series.
Shoshana Greenberger, Efrat Bar-Ilan, Victoria Marcu et al.
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Case in brief
Three pediatric patients with primary cutaneous anaplastic large cell lymphoma (pcALCL) presented with skin-limited disease. They exhibited significant molecular heterogeneity, including known and novel gene fusions. Despite varying clinical courses, from spontaneous regression to requiring systemic therapy, all patients achieved durable complete remission without progression over a follow-up period of 31-50 months.
What made this case unusual
The identification of a novel PICALM::JAK2 fusion in addition to known fusions in these patients highlights the genomic diversity associated with pediatric pcALCL.
Diagnostic / clinical pearl
Clinicians should be aware of the genomic heterogeneity in pediatric pcALCL, which may influence clinical outcomes and management strategies.
Why it matters
Understanding the molecular landscape of pediatric pcALCL can aid in better characterizing the disease and potentially guide future therapeutic approaches.