Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome

Bhattacharjee, Pradip; Leffell, David J.; McNiff, Jennifer M.

doi:10.1111/j.0303-6987.2005.00384.x

Cited by 20 publications

(10 citation statements)

References 26 publications

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“…The immunophenotypic studies performed in the reported cases are summarized in Table . Immunophenotypically, the basaloid epithelial component marks as expected, with immunoreactivity for cytokeratins, p63, bcl‐2, Ber‐EP4, variable EMA, and negative for mesenchymal and melanocytic markers.…”

Section: Discussionmentioning

confidence: 56%

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Cutaneous basal cell carcinosarcoma: case report and literature review

et al. 2015

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Carcinosarcomas are malignant neoplasms with biphasic carcinomatous and sarcomatous or sarcoma-like components. In general, the sarcomatous component is accepted to be the result of divergent mesenchymal differentiation of the epithelial component. Although well characterized in some anatomic locations (e.g. uterus, upper aerodigestive tract and lung), carcinosarcomas of the skin are rare. Reported epithelial components include squamous, adnexal, neuroendocrine and basaloid. Including this case, only 47 cases of primary cutaneous basal cell carcinosarcoma have been reported in the literature to date. We performed an extensive immunophenotypic evaluation in our case, which confirmed the previously reported coexpression of p53 in both components, and revealed a hitherto unreported coexpression of p16 and p63. Additionally, this report reviews the clinical, pathologic, immunophenotypic characteristics and outcomes of the basal cell carcinosarcomas reported in the literature, in order to emphasize the overall uniform characteristics and clinical behavior of this neoplasm.

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Section: Discussionmentioning

confidence: 56%

“…In the reported cases, the epithelial component has been predominantly squamous cell and BCCs, and less frequently adnexal and Merkel cell carcinomas . Including this case, 47 cases of basal cell carcinosarcomas have been reported …”

Section: Discussionmentioning

confidence: 82%

Cutaneous basal cell carcinosarcoma: case report and literature review

et al. 2015

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“…A summary of the clinicopathologic features of primary cutaneous CS based on a literature review 1–12 is given in Table 2. As some reports did not provide complete information, the total numbers of cases analyzed differ for some characteristics.…”

Section: Discussionmentioning

confidence: 99%

“…In recently published articles containing reviews of the literature, different numbers of primary cutaneous CSs have been given, 1-3 ranging from 20 1 to 38 3 cases, probably because of a lack of nomenclatural consensus. With additional cases not included in the cited reviews, [4][5][6][7][8][9][10][11][12] 65 primary CSs of the skin have been described thus far.…”

Section: Discussionmentioning

confidence: 99%

Primary cutaneous carcinosarcoma: case report with expanded immunohistochemical analysis

et al. 2008

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An 83‐year‐old woman presented with a nodular, eroded tumor on the skin between the nose and the upper lip of 18 months’ duration. There were no palpable lymph nodes and no infiltrates on chest radiography. Complete surgical excision showed a tumor measuring 65 × 40 × 30 mm. On histopathologic examination, it was composed of typical basal cell carcinoma (BCC) nodules and large sheets of oval or short spindle cells (Fig. 1a), with vesicular nuclei, distinct nucleoli, moderate pleomorphism, and pronounced mitotic activity (more than 40 mitoses/10 high‐power fields). In parts abutting the upper lip, BCC nodules were found in the muscle layer, but the small salivary glands were uninvolved (Fig. 1b). Immunohistochemical analysis (Table 1) revealed a cytokeratin (CK)‐positive, Ber‐EP4‐positive, and vimentin‐negative BCC component (Fig. 2a), and a vimentin‐positive, CK‐negative sarcomatous component (Fig. 2b). In addition, mesenchymal tumor components were focally positive for smooth muscle actin (SMA). The BCC component showed irregular reaction with CK7, which stained some lobules and parts of individual nests (Fig. 2c). The final diagnosis was primary cutaneous carcinosarcoma. At the last visit, 3 months after operation, no signs of recurrence or metastatic spread were observed. Additional immunohistochemical analyses showed preserved membranous β‐catenin staining in the BCC component, without nuclear reaction in the mesenchymal component. The labeling index (LI) is expressed as the percentage of positive cells, and is calculated from the number of positive tumor cells divided by the total number of tumor cells counted (minimum 300 cells) in the areas with most pronounced immunopositivity. Counting was performed on images taken from microscopic high‐power fields with an Olympus DP70 digital camera (Olympus Corporation, Tokyo, Japan). The program analySYS (Soft Imaging System, Munster, Germany) was used, with the screen grid and the manual touch‐count method. The LI values of Ki‐67 and telomerase reverse transcriptase (hTERT) were higher in the sarcomatous component. hTERT displayed enhanced nucleolar localization and diffuse staining of mitotic cells. Histone deacetylase 1 (HDAC1) was expressed in a smaller percentage of cells than HDAC2, with a higher LI in the sarcomatous component. HDAC2 was the only marker analyzed that stained more cells in the BCC component (Fig. 2d). 1 (a) Basal cell carcinoma (BCC) nodules and diffuse proliferation of sarcomatous cells. (b) Deep peripheral parts of the tumor show BCC nodules infiltrating into the muscle layer, but the small salivary glands are uninvolved. Hematoxylin and eosin; original magnification: (a) ×100; (b) ×40 Immunohistochemical staining in carcinosarcoma Antigen Source Epithelial (BCC) component Mesenchymal component CK (AE1/AE3)Dako*+–EA (Ber‐EP4)Dako+–CK7Dako+ (variable)–EMADako––CEADako––S‐100Dako––HMB‐45Dako––VimentinDako–+Factor VIII‐related AgDako––CD34Dako––CD68Dako––CD99Dako––LCADako––α‐SMADako–+ (focal)DesminDako––β‐CateninSanta Cruz†+ (membran...

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“…Such an assumption is in keeping with a prior report describing the occurrence of basal cell carcinosarcoma in a patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome). 9 Nevoid basal cell carcinoma syndrome is an autosomal dominant syndrome caused by a mutation in PTCH1 on chromosome 9q characterized by a variety of developmental anomalies and neoplasms, most notably numerous nevoid basal cell carcinomas. 10,11 Bhattacharjee et al 9 described a basal cell carcinosarcoma of the thigh in a 61-year-old patient with nevoid basal cell syndrome.…”

Section: Discussionmentioning

confidence: 99%

Basal Cell Carcinosarcoma With PTCH1 Mutations in Both Epithelial and Sarcomatoid Primary Tumor Components and in the Sarcomatoid Metastasis

Kiuru

McDermott²,

Coit³

et al. 2014

American Journal of Surgical Pathology

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Basal cell carcinosarcoma is a rare biphenotypic malignant skin tumor, in which one tumor component has light microscopic features of basal cell carcinoma, whereas the other has features of sarcoma. Clinical experience with this tumor is limited, and associated molecular genetic alterations are unknown. Herein, we report a unique case of metastatic basal cell carcinosarcoma, in which we analyzed the 2 components of the primary tumor as well as the metastasis by next-generation sequencing. The patient was a 72-year-old man who presented with a 7-year history of a large tumor of the left forearm. The tumor showed mixed features of basal cell carcinoma and undifferentiated sarcoma. The patient underwent a wide local excision and sentinel lymph node biopsy, which revealed microscopic subcapsular deposits of metastatic sarcomatoid tumor. One year later, intra-abdominal metastatic tumor was detected and resected. It had sarcomatoid features by light microscopy and failed to stain for epithelial markers by immunohistochemistry. DNA was extracted separately from the epithelial and sarcomatoid component of the primary tumor, intra-abdominal metastasis, and normal tissue. All exons of 230 cancer-associated genes were sequenced to an average read depth of >500-fold. This revealed multiple identical mutations in epithelial and sarcomatoid tumor compartments. Both compartments harbored 2 identical mutations, a truncating and a missense mutation, in the patched gene (PTCH1). This finding is not only of interest for a shared heritage of different subpopulations in a biphenotypic tumor, but also relevant clinically. It provides a rationale for the clinical use of hedgehog pathway inhibitors for treatment of patients affected by this tumor. Unfortunately, the patient reported herein died of metastatic disease before targeted therapy could be initiated.

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Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome

Cited by 20 publications

References 26 publications

Cutaneous basal cell carcinosarcoma: case report and literature review

Cutaneous basal cell carcinosarcoma: case report and literature review

Primary cutaneous carcinosarcoma: case report with expanded immunohistochemical analysis

Basal Cell Carcinosarcoma With PTCH1 Mutations in Both Epithelial and Sarcomatoid Primary Tumor Components and in the Sarcomatoid Metastasis

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