Carcinosarcoma of the esophagus is a rare malignant neoplasm that cons
ists of both carcinomatous and sarcomatous elements. The histogenesis
of the sarcomatous component is generally considered to result from me
taplasia of carcinomatous cells toward mesenchymal differentiation, Tr
ue carcinosarcoma, characterized as a collision between a carcinoma an
d a sarcoma, is extremely rare, We describe a patient with primary ach
alasia who developed a true carcinosarcoma of the esophagus in which c
lonal differences between carcinomatous and sarcomatous elements were
genetically and immunohistochemically demonstrated. A polypoid tumor l
ocated in the middle third of the esophagus developed in a 51-year-old
man with longstanding achalasia. The tumor was predominantly composed
of spindle-shaped sarcomatous cells, Squamous cell carcinoma in situ
and islands of well-differentiated squamous cell carcinoma in the sarc
omatous element were histologically observed. The sarcomatous element
was immunoreactive for both mesenchymal and myoid markers. The carcino
matous component expressed type I and type II cytokeratins as well as
epithelial membrane antigen, Analysis for chromosomal loss of heterozy
gosity performed in multiple microdissected samples of each sarcomatou
s and carcinomatous element revealed distinct genetic clonalities. The
se differences in immunohistochemical and genetic clonalities suggest
that the tumor composed of squamous cell carcinoma and leiomyosarcoma
originated separately from epithelial and mesenchymal precursors.