title: Additional chromosome 1q aberrations and der(16)t(1;16), correlation to the phenotypic expression and clinical behavior of the Ewing family of tumors.
abstract: The cytogenetic hallmark of the Ewing family of tumors is t(11,22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. Additional secondary consistent chromosomal aberrations include the der(16)t(1;16) and frequently, other chromosome 1q abnormalities leading to 1q overdosage. We studied whether these secondary cytogenetic changes are correlated to clinical features and phenotypic expression which may have a prognostic impact. Successful cytogenetic evaluation was performed in eight patients with a Ewing family tumor. In four of these, in addition to the primary aberration, chromosome 1q overdosage (including two with der (16)t(1;16)) was noted. Out of these four patients, two had metastatic disease at the time of evaluation, while in the other four, disease was localized. Morphologically, the tumors with the additional 1q aberration, revealed the pPNET subtype more frequently than the typical Ewing. They also expressed a higher degree of neural differentiation by neural marker immunocytochemistry, in comparison to tumors without the 1q aberration. Determination of the prognostic significance of this finding requires a longer follow-up with a larger group of patients.
authors.affiliation: Department of Pediatric Hematology-Oncology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
authors.forename: B
authors.initials: B
authors.lastname: Stark
authors.forename: C
authors.initials: C
authors.lastname: Mor
authors.forename: M
authors.initials: M
authors.lastname: Jeison
authors.forename: R
authors.initials: R
authors.lastname: Gobuzov
authors.forename: I J
authors.initials: IJ
authors.lastname: Cohen
authors.forename: Y
authors.initials: Y
authors.lastname: Goshen
authors.forename: J
authors.initials: J
authors.lastname: Stein
authors.forename: S
authors.initials: S
authors.lastname: Fisher
authors.forename: S
authors.initials: S
authors.lastname: Ash
authors.forename: I
authors.initials: I
authors.lastname: Yaniv
authors.forename: R
authors.initials: R
authors.lastname: Zaizov
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers; D001859:Bone Neoplasms / Q000235:genetics*; D002454:Cell Differentiation / Q000235:genetics; D002648:Child; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D006801:Humans; D008297:Male; D009474:Neurons / Q000166:cytology / Q000502:physiology; D010641:Phenotype; D012512:Sarcoma, Ewing / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D015415:Biomarkers