H3.1 K36M mutation in a congenital-onset soft tissue neoplasm
| Autor: | You Chang Wang, Raveena Ramphal, Kym M. Boycott, Kristin D. Kernohan, David Grynspan, Jiannis Ragoussis, Sarah L. Sawyer, Jacek Majewski, Nada Jabado, Eric Bareke, Elizabeth Nizalik |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Soft Tissue Neoplasm Soft Tissue Neoplasms Fibroma medicine.disease_cause Malignancy Histones 03 medical and health sciences medicine Humans Exome Pathology Molecular Fibrosarcoma Mutation biology Base Sequence business.industry Fibromatosis Infant Newborn Soft tissue Infant Hematology medicine.disease 3. Good health Congenital onset 030104 developmental biology Histone Oncology Pediatrics Perinatology and Child Health biology.protein business |
| Zdroj: | Pediatric bloodcancer. 64(12) |
| ISSN: | 1545-5017 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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