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Spontaneous expression of fra(11)(q23) in a patient with Ewing's sarcoma and t(11;22)(q23;q11) |
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| Authors: | Susanne M. Gollin Linda J. Perrot Brian A. Gray Morris Kletzel |
| Affiliation: | a Department of Pathology, the University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA b Department of Pediatrics, the University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA c Department of Pediatric Hematology-Oncology, the University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA |
| Abstract: | Cytogenetic analysis of a Ewing's sarcoma revealed a 46,XX,t(8;18)(q11;q21.3), t(11;22)(q23–24;q11–12) chromosome pattern. Observation of t(11;22) is consistent with other reported cases of Ewing's sarcoma. One breakpoint in this translocation, 11q23, coincides with the location of a folate-sensitive fragile site. Examination of peripheral blood leukocyte chromosomes from the patient revealed a 46,XX chromosome pattern with spontaneous, fluorodeoxyuridine-, and Bactrim-induced expression of fra(11)(q23). This may be the first demonstration of constitutional fra(11)(q23) expression in a patient with a neoplasm that exhibits a chromosome rearrangement involving this breakpoint and the first observation of spontaneous expression of this fragile site. These results provide a basis for discussion of the relationship between fragile sites and chromosome rearrangements. |
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