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

Abstract

Background: Cutaneous pilomatrical carcinosarcoma (CS) is a very rare biphasic tumor composed of admixed epithelial and mesenchymal malignant cells, with limited information on its pathogenesis. We report a case of pilomatrical CS of the scalp with comparative immunohistochemical and molecular analysis together with a review of the literature. Case presentation: A 74-year-old woman presented with a rapidly growing long-standing tumor of the scalp. The tumor was surgically resected. Histologically, the tumor was 25 mm in diameter, and was composed of carcinoma showing a clear pilomatrical differentiation and sarcoma with pleomorphic spindle cells and giant cells. Both epithelial and mesenchymal components shared focal cytoplasmic and/or nuclear accumulation of β-catenin based on immunohistochemical analysis, although a mutation of exon 3 of the CTNNB1 gene was not detected. Fluorescence in situ hybridization analysis revealed gains of chromosomes 9p21, 3, and 7 in both the epithelial and sarcomatous components. Conclusions: The current case demonstrated characteristic findings of pilomatricoma and further evidence of partial clonality between the carcinomatous and sarcomatous component, suggesting the possibility of malignant transformation of pilomatricoma. Rapid growth of a pilomatrical tumor should warrant the development of a malignant tumor, including CS.

Cutaneous adnexal carcinosarcoma: Immunohistochemical and molecular evidence of epithelial mesenchymal transition

“…WNT activation leads to downregulation of E‐cadherin expression, which causes the migration of β‐catenin to the nucleus. This phenomenon of EMT is characterized by a loss of E‐cadherin membranous expression in the sarcomatous component and an acquisition of abnormal cytoplasmic and/or nuclear expression of β‐catenin 11,12 . In our case, the sarcomatous component demonstrated a complete loss of E‐cadherin expression.…”

“…This phenomenon of EMT is characterized by a loss of Ecadherin membranous expression in the sarcomatous component and an acquisition of abnormal cytoplasmic and/or nuclear expression of β-catenin. 11,12 In our case, the sarcomatous component demonstrated a complete loss of E-cadherin expression. However, neither nuclear nor cytoplasmic β-catenin expression was observed.…”

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

“…This suggested that CpG methylation changes may be induced by oncogenic beta-catenin, where beta-catenin was found to have interacted with DNA methyltransferase I in a mutually stabilizing interaction in the nuclei of cancer cells [ 49 ]. Although, majority of CDKN2A mutations are inactivating mutations (i.e., loss-of-function mutations), an interesting study found an increased copy number of CDKN2A gene in a nonsyndromic case with cutaneous pilomatrical carcinosarcoma but mutation of exon 3 of the CTNNB1 gene was not detected in that case [ 50 ]. For the other genes on the short arm of chromosome 9, there were no evidences that link them to pathogenesis of pilomatricoma.…”

Cutaneous Carcinosarcoma: A Small Case Series and Review of the Literature of a Rare Skin Tumor

“…These tumors are known for their biphasic nature, rapid rate of growth, ulceration, and exophytic-appearance that can be misleading to even the most-experienced clinicians. Several histologic forms of carcinosarcoma of the skin have been described, including basal cell, squamous cell, pilomatrical, and trichoblastic carcinosarcoma [ 10 - 12 ]. As opposed to adnexally derived carcinosarcomas, epidermally derived carcinosarcomas are reported to have a better five-year survival rates, with disease-free survival of 70% compared to 25%, respectively [ 6 ].…”