Article
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Pediatric blood & cancer - 1 Dec 2017
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
Abstract excerpt
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...
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