CDX2 and LEF‐1 expression in pilomatrical tumors and their utility in the diagnosis of pilomatrical carcinoma

Abstract

This study reaffirms the importance of the Wnt signaling pathway in the tumorigenesis of pilomatrical tumors, and this introduces CDX2 as a possible regulator and marker of pilomatrical tumorigenesis. LEF-1 and CDX2 performed at least as well as β-catenin, if not better when taking into account expression pattern, as a diagnostic marker for PMCA, and should be considered in the workup of ambiguous primitive-appearing cutaneous tumors.

Cutaneous pilomatrical carcinosarcoma: a case report with molecular analysis and literature review

“…This staining pattern corresponds to the pattern of aberrant beta-catenin expression, suggesting involvement of activated Wnt pathway during sarcomatous transformation. The LEF-1 immunoreactivity in present case is different from the results of Tumminello et al (2018) which found that LEF-1 was strong and diffuse positive in basaloid cells of pilomatrical tumor[15]. By immunofluorescence analysis, the study ofChan et al (1999) also showed that LEF-1 expression was prominently found in nuclei of the proliferating cells of pilomatricomas[9].…”

“…Mutation of exon 3 of CTNNB1, which encodes β-catenin, has also been identified in some pilomatrical neoplasms [8][9][10][11][12][13][14]. In addition, LEF1-1, further downstream effector of aberrant β-catenin in Wnt pathway, has been recently tested as a diagnostic marker for pilomatrical tumors (sensitivity = 100%, specificity = 56%) [15]. According to a small number of studies, epithelial and sarcomatous components often share partially identical chromosomal abnormalities, despite their distinct morphologies [3,16].…”

Early Pilomatrix Carcinoma: A Case Report With Emphasis on Molecular Pathology and Review of the Literature

“…Tumminello and Hosler 23 found that pilomatrixomas and pilomatrix carcinomas were positive for CDX-2, β-catenin, and LEF-1 by immunohistochemistry. These downstream molecules in the Wnt signaling pathway could have the potential to be used as diagnostic and prognostic markers.…”

“…These downstream molecules in the Wnt signaling pathway could have the potential to be used as diagnostic and prognostic markers. 2,13,15,23 Although the pathogenesis is unclear, there are 2 possible mechanisms by which pilomatrix carcinomas develop. They can either arise as de novo tumors, or it is possible that initial mutations in β-catenin result in the formation of pilomatrixomas at an early age that may undergo malignant transformation in elderly patients over time with additional mutations.…”

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Follicular Differentiation

“…In one study, authors assess that caudal-related homeobox transcription factor 2 (CDX2) and lymphoid enhancer-binding factor 1 (LEF-1) can be a possible regulator and marker of pilomatrical carcinoma development. CDX2 and LEF-1 performed at least as well as β-catenin 1, in which the mutation is most often described ( CTNNB1 ) ( Table 1 ) [ 9 ].…”