Comparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing.

ABSTRACT:

Background

Malignant pilomatricoma (MP) is a rare cancer of the hair matrix with only a few cases reported in literature. Given the rarity of this cancer and the lack of relevant genetic data, very little is known about the nature of the molecular pathophysiology except the involvement of the Catenin Beta 1 (CTNNB1)/Wnt/β-catenin signaling pathway in some cases.

Materials and methods

We describe the whole-exome genomic profiling of four samples from two patients: 1) an MP from patient I, 2) a coexisting benign pilomatricoma (BP) from patient I, 3) a BP from an age and location-matched control patient II, and 4) normal skin tissue from patient II.

Results

We detected a pathogenic somatic missense mutation in fibroblast growth factor receptor 4 (FGFR4) (c.1162G>A, p. Gl

SUBMITTER: Yeo MK 

PROVIDER: S-EPMC7675647 | biostudies-literature | 2020 Nov-Dec

REPOSITORIES: biostudies-literature