Esophageal carcinosarcoma with basaloid squamous carcinoma and rhabdomyosarcoma components with TP53 mutation.
ABSTRACT Carcinosarcoma of the esophagus is a rare tumor with a distinct pathological entity having squamous cell carcinoma as the most described carcinomatous component. This paper reports the first case of carcinosarcoma of the esophagus that showed predominant basaloid squamous carcinoma component in addition to squamous cell carcinoma and poorly differentiated carcinoma and sarcoma component. A 64-year-old male patient consulted for dysphasia and chest pain was examined and found to have gastrointestinal fiber-endoscope and a polypoid growth in the lower third of the esophagus. Partial esophagectomy was performed and the excised tumor showed histological features of carcinosarcoma with heterogeneous carcinomatous components with dominance of basaloid squamous carcinoma and minority of squamous cell carcinoma, poorly differentiated carcinoma, and sarcomatous component, immunohistochemically proven to be rhabdomyosarcoma. Immunohistochemical study and TP53 mutation analysis was carried out to explain the histogenesis of this rare tumor. The distinct immunohistochemical profiles of the carcinomatous and sarcomatous components suggested the possibility of transition from a carcinomatous to a sarcomatous component. The similar TP53 mutation in the carcinomatous and sarcomatous component suggested each of these components had the same origin, that is, the tumor was monoclonal in origin.
SourceAvailable from: Tsuyoshi Saito[Show abstract] [Hide abstract]
ABSTRACT: Basaloid squamous cell carcinoma of the esophagus is a rare variant of squamous cell carcinoma. We reviewed 878 cases of esophageal squamous cell carcinoma and detected 22 cases (3%) of basaloid squamous cell carcinoma. These tumors and stage-matched paired conventional squamous cell carcinomas were investigated for clinicopathologic features and immunoreactivity of cytokeratin subtypes, p53, B-cell lymphoma 2 (bcl-2), β-catenin, and epidermal growth factor receptor. Molecular aberrations in p53, CTNNB1 (the gene encoding β-catenin), and epidermal growth factor receptor (EGFR) were also determined. Patients with basaloid squamous cell carcinomas demonstrated a 5-year survival rate of 42%, significantly worse than those with well-differentiated squamous cell carcinoma (P < .01). Histologically, solid nests with central necrosis and a cribriform pattern were identified in almost all (≥95%) cases, and ductal differentiation was less frequent (45%) but associated with significantly better survival (P < .05). Compared with conventional squamous cell carcinomas, the basaloid squamous cell carcinomas were less immunoreactive for cytokeratin 14, cytokeratin 903, and membranous β-catenin (P < .01-.001) but more reactive for bcl-2, nuclear β-catenin, epidermal growth factor receptor, and Ki-67 (P < .05-.001). Direct sequencing showed mutations of p53 (36%), EGFR (14%), but not CTNNB1; fluorescent in situ hybridization detected amplification of the epidermal growth factor receptor gene (22%). In basaloid squamous cell carcinomas, low-level expression of cytokeratin 14/cytokeratin 903 and mutations of p53 and EGFR had a significant influence on worse survival (P < .05-.001). We conclude that the esophageal basaloid squamous cell carcinoma, a neoplasm with particularly aggressive biologic behavior, should be differentiated from conventional squamous cell carcinomas. In this context, immunohistochemical assessment of several markers might provide a useful adjunct diagnostic tool. Aberrations of p53 and epidermal growth factor receptor genes are possibly involved in progression of esophageal basaloid squamous cell carcinoma.Human pathology 05/2012; 43(11):2012-23. DOI:10.1016/j.humpath.2012.02.010 · 2.81 Impact Factor
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ABSTRACT: Basaloid squamous carcinoma (BSC) of the esophagus is a rare but distinct variant of esophageal carcinoma, identical to BSC of the upper aerodigestive tract. The incidence of BSC has been reported to present 0.4–3.6% of total esophageal malignant tumors. The average age of BSC patients was 64years, ranging from 42 to 87years, with male predominance (male to female ratio 6.8:1). The tumor preferentially occurs in the middle part of the thoracic esophagus and appears a subepithelial tumor-like or polypoid elevation in early stages. Histologically, it is composed of basaloid cells with oval to round nuclei and scant basophilic cytoplasms, which show a solid growth pattern, small gland-like spaces, and foci of comedo-type necrosis with hyalinized stroma mimicking basement membrane. BSCs are commonly associated with intraepithelial neoplasia or invasive squamous cell carcinoma (SCC). The proliferative activity is higher than that in typical SCC. However, BSC is also characterized by a high rate of apoptosis. Although the prognosis of BSC does not differ significantly from that of typical SCC in early stages, advanced-stage BSC shows a poorer prognosis than typical SCC. Recent advances in molecular pathology have demonstrated peculiar features of BSC, including aneuploidy, frequent Bcl-2 expression, and less frequent expression of p16 protein. There is no doubt that BSC differs from typical SCC; however, further investigation is required to elucidate the detailed biological behavior of BSC. KeywordsEsophageal carcinoma–Basaloid squamous carcinoma–Squamous cell carcinomaEsophagus 09/2011; 8(3):169-177. DOI:10.1007/s10388-011-0280-x · 0.74 Impact Factor
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ABSTRACT: Basaloid squamous cell carcinoma (BSCC) and carcinosarcoma of the esophagus are rare entities, making up fewer than 2% of esophageal malignancies. Comparative genomic hybridization (CGH) in 1 case of BSCC and 2 cases of carcinosarcoma and subsequent array CGH in 1 case each of BSCC and carcinosarcoma revealed common chromosomal gains at 2p25.3-2p12, 7q21.3-7q22.3, and 11q13.2-11q13.4. Chromosomal losses at 13q31qter were observed in both carcinosarcomas. In addition, progression of genomic instability from in situ to invasive carcinosarcoma could be demonstrated by using array CGH. Our observations suggest a common genetic origin of BSCC and carcinosarcoma.American Journal of Clinical Pathology 04/2011; 135(4):579-86. DOI:10.1309/AJCPZ1O7UUUISPNR · 3.01 Impact Factor