title: Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.
abstract: Seventy-seven patients were identified with Rare recurring (excluding 11q23, 21q22, inv(16), and t(15;17)) chromosome abnormalities among 511 patients with treatment-related myelodysplastic syndromes and acute leukemia accepted from centers in the United States, Europe, and Japan. The abnormality subsets included 3q21q26 (17 patients), 11p15 (17 patients), t(9;22)(q34;q11) (10 patients), 12p13 (9 patients), t(8;16)(p11;p13) (9 patients), and an "other" subset, which included t(6;9)(p23;q34) (3 patients), t(10;11)(p13;q13 approximately q21) (3 patients), t(1;17)(p36;q21) (2 patients), t(8;14)(q24;q32) (2 patients), t(11;19)(q13;q13) (2 patients), t(1;3)(p36;q21) (2 patients), and t(3;5)(q21;q31) (1 patient). Increased karyotypic complexity with additional balanced and unbalanced rearrangements was observed in 70% of cases. Among 54 cases with secondary abnormalities, chromosome 5 and/or 7 abnormalities were observed in 59%. The most frequent primary diseases were breast cancer (24 cases), Hodgkin disease (14 cases), non-Hodgkin lymphoma (10 cases), and de novo ALL (5 cases). Thirty-seven patients received alkylating agents plus topoisomerase II inhibitors with or without radiation therapy. The presenting diagnosis was t-AML in 47 cases, t-MDS in 23 cases (10 progressed to t-AML), and t-ALL in seven cases, five of whom had a t(9;22). The median latency time from initiation of original therapy to therapy-related disease diagnosis was quite long (69 months), and the overall median survival from the date of therapy-related disease diagnosis was very short (7 months). The 1-year survival rate was 34 +/- 7%, with no significant differences among subsets. Comparison with previously reported cases showed increased karyotypic complexity and adult presentation of pediatric-associated chromosome abnormalities.
authors.affiliation: Clinical Cytogenetics Laboratory, Roswell Park Cancer Institute, Buffalo, New York 14263, USA. annemarie.block@roswellpark.org
authors.forename: AnneMarie W
authors.initials: AW
authors.lastname: Block
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Carroll
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Lucienne
authors.initials: L
authors.lastname: Michaux
authors.forename: Kirsten
authors.initials: K
authors.lastname: van Lom
authors.forename: Harold J
authors.initials: HJ
authors.lastname: Olney
authors.forename: Maria R
authors.initials: MR
authors.lastname: Baer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations / Q000139:chemically induced* / Q000706:statistics & numerical data; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced* / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000139:chemically induced* / Q000453:epidemiology; D009364:Neoplasm Recurrence, Local / Q000139:chemically induced* / Q000453:epidemiology; D014178:Translocation, Genetic / Q000187:drug effects / Q000235:genetics