title: 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.
abstract: 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.
authors.affiliation: Department of Pathology, Texas A&M Health Science Center, Temple, TX, USA. ldonner@swmail.sw.org
authors.forename: Ludvik R
authors.initials: LR
authors.lastname: Donner
mesh_terms: D059786:Abnormal Karyotype; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003131:Combined Modality Therapy; D017809:Fatal Outcome; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007044:Hysterectomy; D007150:Immunohistochemistry; D007223:Infant; D017599:Neuroectodermal Tumors / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy