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H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Kernohan, Kristin D; Grynspan, David; Ramphal, Raveena; Bareke, Eric; Wang, You Chang; Nizalik, Elizabeth; Ragoussis, Jiannis; Jabado, Nada; Boycott, Kym M; Majewski, Jacek; Sawyer, Sarah L.
Affiliation
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Grynspan D; Department of Pathology, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Ramphal R; Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Bareke E; Department of Human Genetics, McGill University, Montreal, Canada.
  • Wang YC; McGill University and Genome Quebec Innovation Centre, Montreal, Canada.
  • Nizalik E; McGill University and Genome Quebec Innovation Centre, Montreal, Canada.
  • Ragoussis J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Jabado N; Department of Human Genetics, McGill University, Montreal, Canada.
  • Boycott KM; McGill University and Genome Quebec Innovation Centre, Montreal, Canada.
  • Majewski J; Department of Human Genetics, McGill University, Montreal, Canada.
  • Sawyer SL; Department of Pediatrics, McGill University and McGill University Health Centre Research Institute, Montreal, Canada.
Pediatr Blood Cancer ; 64(12)2017 Dec.
Article in En | MEDLINE | ID: mdl-28509377
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Soft Tissue Neoplasms / Histones / Exome / Fibroma / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Newborn Language: En Journal: Pediatr Blood Cancer Journal subject: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Year: 2017 Type: Article Affiliation country: Canada
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Soft Tissue Neoplasms / Histones / Exome / Fibroma / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Newborn Language: En Journal: Pediatr Blood Cancer Journal subject: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Year: 2017 Type: Article Affiliation country: Canada