H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
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.
Key words
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