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H3.1 K36M mutation in a congenital‐onset soft tissue neoplasm |
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| Authors: | Kristin D. Kernohan David Grynspan Raveena Ramphal Eric Bareke You Chang Wang Elizabeth Nizalik CareRare Canada Consortium Jiannis Ragoussis Nada Jabado Kym M. Boycott Jacek Majewski Sarah L. Sawyer |
| Affiliation: | 1. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada;2. Department of Pathology, Children's Hospital of Eastern Ontario, Ottawa, Canada;3. Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, Canada;4. Department of Human Genetics, McGill University, Montreal, Canada;5. McGill University and Genome Quebec Innovation Centre, Montreal, Canada;6. Department of Pediatrics, McGill University and McGill University Health Centre Research Institute, Montreal, Canada;7. Department of Genetics, Children's Hospital of Eastern Ontario, 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. |
| Keywords: | histone H3.1 infantile cancer posttranslational histone modification soft tissue tumor |