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.
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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
- Medicina oral: organo oficial de la Sociedad Espanola de Medicina Oral y de la Academia Iberoamericana de Patologia y Medicina Bucal 02/1997; 2(3):135-139. DOI:10.4132/KoreanJPathol.2010.44.1.1
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ABSTRACT: We describe the clinicopathological and immunohistochemical features of three spindle (sarcomatoid) basaloid squamous carcinomas in three men aged 73, 69, and 59 years with a history of tobacco and alcohol abuse. Two tumors were located in the hypopharynx and one was located in the nasal cavity. The three tumors have a pedunculated polypoid appearance. Histologically, they were composed of conventional basaloid squamous carcinomas with extensive malignant spindle cell proliferation, comprising more than 50% of the tumor. The sarcomatoid component demonstrated immunoreactivity with one or more epithelial markers. One case in addition expressed CD99 and Bcl-2 and was originally diagnosed as monophasic synovial sarcoma; however, a subsequent biopsy disclosed basaloid squamous cell carcinoma with sarcomatoid stroma. Two patients were treated with surgery and radiation whereas one refused therapy. The patients were alive 14 (case patient 1), 10 (case patient 2), and 8 (case patient 3) months after diagnosis. In the absence of evidence from immunohistochemical or electron microscopy studies, a polypoid malignant spindle cell tumor of a mucosal surface of the upper aerodigestive tract should be considered a sarcomatoid carcinoma until proven otherwise. The type of epithelial component would determine the subtype of sarcomatoid carcinoma.Annals of Diagnostic Pathology 07/2006; 10(3):149-53. DOI:10.1016/j.anndiagpath.2005.09.010 · 1.11 Impact Factor