PMID- 33099480
OWN - NLM
STAT- MEDLINE
DCOM- 20210621
LR  - 20221207
IS  - 1790-6245 (Electronic)
IS  - 1109-6535 (Print)
IS  - 1109-6535 (Linking)
VI  - 17
IP  - 6
DP  - 2020 Nov-Dec
TI  - Comparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing.
PG  - 795-802
LID - 10.21873/cgp.20233 [doi]
AB  - 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/beta-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. Gly388Arg) 
      in MP and coexisting BP in patient I, whereas the control BP harbored the 
      classical CTNNB1 mutant. CONCLUSION: This study, the first comparative analysis 
      of benign and MP through whole-exome analysis, identified a novel oncogenic 
      mutation in FGFR4.
CI  - Copyright(c) 2020, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - Yeo, Min-Kyung
AU  - Yeo MK
AD  - Department of Pathology, Chungnam National University School of Medicine, 
      Daejeon, Republic of Korea.
FAU - Bae, Go Eun
AU  - Bae GE
AD  - Department of Pathology, Chungnam National University School of Medicine, 
      Daejeon, Republic of Korea goeunbae1@gmail.com.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - Greece
TA  - Cancer Genomics Proteomics
JT  - Cancer genomics & proteomics
JID - 101188791
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (CTNNB1 protein, human)
RN  - 0 (beta Catenin)
RN  - EC 2.7.10.1 (FGFR4 protein, human)
RN  - EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 4)
SB  - IM
MH  - Biomarkers, Tumor/genetics
MH  - Case-Control Studies
MH  - Exome
MH  - *Gene Expression Regulation, Neoplastic
MH  - Hair Diseases/genetics/*pathology
MH  - Humans
MH  - *Mutation
MH  - Pilomatrixoma/genetics/*pathology
MH  - Prognosis
MH  - Receptor, Fibroblast Growth Factor, Type 4/*genetics
MH  - Skin Neoplasms/genetics/*pathology
MH  - Exome Sequencing
MH  - Wnt Signaling Pathway
MH  - beta Catenin/*genetics
PMC - PMC7675647
OTO - NOTNLM
OT  - CTNNB1
OT  - FGFR4
OT  - malignant
OT  - mutation
OT  - pilomatricoma
OT  - whole-exome sequencing
COIS- No potential conflicts of interest are disclosed by the authors. The funders had 
      no role in the design of the study or in the decision to publish the results.
EDAT- 2020/10/26 06:00
MHDA- 2021/06/22 06:00
PMCR- 2020/11/03
CRDT- 2020/10/25 20:14
PHST- 2020/08/07 00:00 [received]
PHST- 2020/09/02 00:00 [revised]
PHST- 2020/09/07 00:00 [accepted]
PHST- 2020/10/25 20:14 [entrez]
PHST- 2020/10/26 06:00 [pubmed]
PHST- 2021/06/22 06:00 [medline]
PHST- 2020/11/03 00:00 [pmc-release]
AID - 17/6/795 [pii]
AID - 10.21873/cgp.20233 [doi]
PST - ppublish
SO  - Cancer Genomics Proteomics. 2020 Nov-Dec;17(6):795-802. doi: 10.21873/cgp.20233.