Rare recurring balanced chromosome abnormalities in therapy‐related myelodysplastic syndromes and acute leukemia: Report from an International Workshop†

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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∼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.

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