No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

Anupong Nitiruangjaras,Pornprot Limprasert,Juthamas Wirojanan,Sasipong Trongnit,Diana Carli,Chariyawan Charalsawadi,Somchit Jaruratanasirikul,Kanoot Jaruthamsophon

doi:10.1155/2021/2612846

Anupong Nitiruangjaras, Pornprot Limprasert + Show 6 more

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https://doi.org/10.1155/2021/2612846

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Abstract

Background Little is currently known about the genetics of pilomatricoma. A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. In this study, we reviewed literatures involving 30 patients with various genetic syndromes that have been linked to pilomatricoma and found that somatic mutations of the CTNNB1 gene were reported in 67% of patients. Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma. Objectives To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. Methods Cytogenetic analysis was carried out on peripheral blood, biopsied skin, and pilomatricoma tissue obtained from a patient with tetrasomy 9p syndrome. Immunohistochemical staining was performed on the pilomatricoma tissue, using beta-catenin and bcl2 monoclonal antibodies. Results SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. Conclusion Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient.

Highlights

Pilomatricoma, known as pilomatrixoma or epithelioma calcificans of Malherbe (OMIM #132600), is the most common benign tumor of hair matrix cells
Tetrasomy 9p syndrome was diagnosed in our patient by a combination of G-banding karyotype analysis on peripheral blood and Single nucleotide polymorphism (SNP) microarray
DNA extracted from uncultured peripheral blood was analyzed on peripheral blood to further characterize the extra structurally abnormal chromosome (ESAC)

Summary

Introduction

Pilomatricoma, known as pilomatrixoma or epithelioma calcificans of Malherbe (OMIM #132600), is the most common benign tumor of hair matrix cells. A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. We reviewed literatures involving 30 patients with various genetic syndromes that have been linked to pilomatricoma and found that somatic mutations of the CTNNB1 gene were reported in 67% of patients. To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl proteins in our patient. Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient

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