Restricted accessCase reportFirst published online 2012-5
Uterine Neuroectodermal Tumor with Ependymoblastic Features in an Infant with Clonal +del (2)(q11.2),-13: A Possible Role of Increased Gene Dosage on 2pter-2q11.2 in the Tumorigenesis
Clonal +(2)(q11.2),-13 was detected in a uterine neuroectodermal tumor with ependymoblastic features arising in an infant. The tumor expressed vimentin, nestin, CD56, CD99, microtubule-associated protein 1B (MAP 1B), focally microtubule-associated protein 2 (MAP 2), synaptophysin, neuron-specific enolase, and, very focally, epithelial membrane antigen. Because trisomy 2 was previously detected in a medulloepithelioma of pelvic soft tissue and in several neuroectodermal tumors of the central nervous system, this finding is indicative of a possible role of increased dosage of gene(s) on chromosome 2 in the tumorigenesis of these neoplasms and of their histogenetic relatedness.
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