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H3.1 K36M mutation in a congenital‐onset soft tissue neoplasm
Author(s) -
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.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26633
Subject(s) - medicine , exome sequencing , fibromatosis , malignancy , soft tissue , pathology , lesion , fibrosarcoma , aggressive fibromatosis , mutation , genetics , biology , gene
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.