title: Cytogenetic abnormalities during clinical, immunophenotypic, and molecular remission in pediatric acute lymphoblastic leukemia.
abstract: The significance of random cytogenetic abnormalities detected in pediatric acute lymphoblastic leukemia (ALL) during remission is unknown. We studied 10 of 72 consecutive ALL patients who developed cytogenetic abnormalities during clinical remission to determine their effect on remission status. The cytogenetic abnormalities occurred at a median of 14.5 months (range 5-72) from the initial diagnosis. Five abnormalities were designated as clonal (monosomy 21 in three metaphases and 64 approximately 69,XXY in three metaphases from one patient at different times, and del(20)(q12q13) in three metaphases, add(13)(q34) in two metaphases, and ?del(19)(p11) in two metaphases from three different patients). Seven abnormalities were previously described: del(5)(q12), del(5)(q33), -7, del(11)(q23), +12, and +13 each in one metaphase, and del(20)(q12q13) in three metaphases). The remaining cytogenetic abnormalities were nonclonal and random. Flow cytometry and analysis of IgH and TcR gene rearrangements showed that all evaluable patients were in immunophenotypic and molecular remission, respectively. Eight patients remain in clinical and molecular remission a median of 9 months (range 7-18) after detecting the cytogenetic abnormality, and the leukemia in two patients has relapsed. During remission, cytogenetic abnormalities may not be a harbinger of leukemia relapse in pediatric ALL; therefore, a wait-and-see approach is prudent.
authors.affiliation: Department of Pediatrics, New York Medical College, Valhalla, NY 10595, USA.
authors.forename: C
authors.initials: C
authors.lastname: Sandoval
authors.forename: S P
authors.initials: SP
authors.lastname: Mayer
authors.forename: J
authors.initials: J
authors.lastname: Giamelli
authors.forename: T
authors.initials: T
authors.lastname: Farley
authors.forename: M F
authors.initials: MF
authors.lastname: Ozkaynak
authors.forename: O
authors.initials: O
authors.lastname: Tugal
authors.forename: S
authors.initials: S
authors.lastname: Jayabose
mesh_terms: D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D002999:Clone Cells / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D005260:Female; D005434:Flow Cytometry; D015321:Gene Rearrangement / Q000235:genetics; D015329:Gene Rearrangement, T-Lymphocyte; D005803:Genes, Immunoglobulin / Q000235:genetics; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007621:Karyotyping; D007963:Leukocytes, Mononuclear / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D011379:Prognosis; D012008:Recurrence; D012074:Remission Induction