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Updated: Mar 2, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm
Kristin D Kernohan1, David Grynspan2, Raveena Ramphal3
1Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Abstract:
We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants.
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