Pilomatrical carcinosarcoma of the temple: A case report

Abstract

Pilomatrical carcinosarcoma is a very rare entity, with only six cases reported until now. This report describes the case of a 100-year-old woman with a mass on the left temple that had existed for several decades but had recently grown in size. Histology showed an asymmetric lesion composed of basaloid cells, spindle cells, and "shadow" or "ghost" cells. Cells had atypical hyperchromatic nuclei with prominent nucleoli, high mitotic activity, and atypical mitosis. In the central area, an epidermal cyst-like structure was seen. The diagnosis of pilomatrical carcinosarcoma was rendered. This case appeared to have arisen from malignant transformation of a pilomatricoma because of the long clinical history and existence of a benign epidermal cyst-like structure. In addition, the observation that the basaloid cells and spindle cells showed a gradual transition from one to the other and that both types were positive for β-catenin would seem to support a common clonal origin for the carcinomatous and sarcomatous components. K E Y W O R D S epidermal cyst, pilomatrical carcinosarcoma, pilomatricoma

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

“…In our case, the tumor had undergone a 10-year-long slow growth phase followed by rapid growth within 2 months, suggesting that this tumor had clinically transformed from a benign state. Although no exon 3 mutation of CTNNB1 gene was found, an abnormal expression of β-catenin was focally observed in both the epithelial and sarcomatous All values were calculated using the ratio of the centromere or gene on the nuclei Abbreviation: SD standard deviation component was concordant with previous reports of pilomatrical CS [5,6]. Furthermore, previous report of pilomatrical CS investigating both β-catenin expression and CTNNB1 gene exon 3 mutation showed aberrant βcatenin expression in the tumor without mutation [5], which is consistent with our case.…”

“…Primary pilomatrical CS is a rare condition, with only several cases reported in the English literature to our knowledge [2][3][4][5][6][7]. Summaries of information regarding the present case and other cases of pilomatrical or cutaneous CS are shown in Tables 3 and 4, respectively.…”

“…The diagnostic terms of this condition vary, and include sarcomatoid carcinoma, metaplastic carcinoma, and spindle cell carcinoma [1]. Over 100 cases of CS of the skin have been reported [2]; however, only several cases of CS of pilomatrical origin have been reported [2][3][4][5][6][7]. βcatenin, a downstream effector in the canonical pathway of Wnt, is suggested to be associated with pilomatrical neoplasms, presenting with nuclear and/or cytoplasmic staining within the tumor upon immunohistochemical analysis [8][9][10][11][12].…”

The Rarity in the Rarity: Presentation of Three Cases of Cutaneous Carcinosarcoma with Clinical and Histopathological Insights

“…Regarding a pilomatrical CS, the first reported case present in the literature was by Hanly et al [ 14 ] in 1994, in which a 36-year-old male complained of a lesion on his cheek that four months later metastasized to the right upper lobe of the lung. Then, other cases were published [ 11 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ], and Leecy et al reported data about a pilomatrical CS using a comparative genomic hybridization analysis (CGH) on both the carcinomatous and sarcomatous components, showing that each component had many copy number variations (CNVs), with the sarcomatous component having more CNVs than the epithelial elements (twelve vs. five CNVs, respectively). Furthermore, the sarcomatous component also contained a homozygous deletion of chromosome 17q25 and a homozygous loss of chromosome 9p21, which contained the CDKN2A (p16) gene.…”