Two independent clones in myelodysplastic syndrome following treatment of acute myeloid leukemia

• Published in: International journal of hematology 2002-02, Vol.75 (2), p.182-186
• Main Authors: MASUYA, Masahiro, KATAYAMA, Naoyuki, KAGEYAMA, Shin-Ichi, MINAMI, Nobuyuki, SHIKU, Hiroshi, INAGAKI, Koichi, MIWA, Hiroshi, HOSHINO, Natsuki, MIYASHITA, Hiroyuki, SUZUKI, Hirohito, ARAKI, Hiroto, MITANI, Hidetsugu, NISHII, Kazuhiro
• Format: Article
• Language: English
• Subjects: Acute Disease; Antineoplastic Agents - administration & dosage; Antineoplastic Agents - toxicity; Biological and medical sciences; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 2; Clone Cells - pathology; Cytogenetic Analysis; Drug toxicity and drugs side effects treatment; Female; Humans; Leukemia, Myeloid - complications; Leukemia, Myeloid - drug therapy; Medical sciences; Middle Aged; Myelodysplastic Syndromes - chemically induced; Myelodysplastic Syndromes - genetics; Myelodysplastic Syndromes - pathology; Neoplasms, Second Primary - chemically induced; Neoplasms, Second Primary - genetics; Neoplasms, Second Primary - pathology; Pharmacology. Drug treatments; Toxicity: blood; Translocation, Genetic
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/BF02982025

We describe a 55-year-old Japanese woman with therapy-related myelodysplastic syndrome (t-MDS) with 2 independent clones, t(1;2)(p36;p21) and t(11;12)(pl5;ql3). She was diagnosed with acute myeloid leukemia (AML) with cytological features of the bone marrow and peripheral blood. Cytogenetic evaluation revealed a 46,XX karyotype. She received chemotherapy and achieved complete remission (CR). Despite maintenance chemotherapy, she suffered a relapse. Chromosomal analysis showed t(1;2)(p36;p21) in 2 of 20 metaphases. At second CR, this clone transiently disappeared. Nine months later, t(1;2) (p36;p21) was detected again in 3 of 20 metaphases while the patient remained in CR. Six months later, bone marrow examination disclosed trilineage dysplasia without an excess of blasts, suggesting MDS. t(1;2)(p36;p21) was observed in 16 of 20 metaphases. The clinical course and serial cytogenetic findings were diagnostic of t-MDS. The duration of t-MDS was 6 years. During this period, persistent t(1;2)(p36;p21) and transient t(11;12)(p15;q13) were found. When t-MDS evolved toAML, cytogenetic evaluation revealed 46,XX,t(1;2)(p36;p21),del(7)(q22),add(19)(p13).