p210 BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16)

• Published in: International journal of hematology Vol. 96; no. 6; p. 814
• Main Authors: Dai, Hai-ping, Xue, Yong-quan, Wu, Li-li, Pan, Jin-lan, Gong, Yan-lei, Wu, Ya-fang, Zhang, Jun, Wu, De-pei, Chen, Su-ning
• Format: Journal Article
• Language: English
• Published: Japan 01.12.2012
• Subjects: Adult; Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Benzamides; Chromosome Inversion; Chromosomes, Human, Pair 16 - genetics; Chromosomes, Human, Pair 16 - ultrastructure; Combined Modality Therapy; Cytarabine - administration & dosage; Fusion Proteins, bcr-abl - genetics; Humans; Idarubicin - administration & dosage; Imatinib Mesylate; In Situ Hybridization, Fluorescence; Leukemia, Myelomonocytic, Acute - drug therapy; Leukemia, Myelomonocytic, Acute - genetics; Leukemia, Myelomonocytic, Acute - surgery; Male; Oncogene Proteins, Fusion - genetics; Peripheral Blood Stem Cell Transplantation; Philadelphia Chromosome; Piperazines - administration & dosage; Pyrimidines - administration & dosage; Remission Induction
• ISSN: 1865-3774
• DOI: 10.1007/s12185-012-1190-y

t(9;22) as a secondary change of inv(16) is a rare chromosome aberration in de novo acute myeloid leukemia (AML). Here, we report the case of a 31-year-old man with this rare abnormality. Karyotypic analysis showed a complex chromosome aberration:46,XY,der(8)t(8;10)(p23;q25),der(10)t(8;10)t(10;16)(p13;q22),der(16)inv(16)(p13q22)t(10;16)[4] and 46,XY,idem,t(9;22)(q34;q11)[6]. Fluorescence in situ hybridization detected both the CBFB and the BCR/ABL1 rearrangements. CBFB/MYH11 (A type) and BCR/ABL1 (b3a2) fusion transcripts were both detected by real-time quantitative RT-PCR. The patient was treated with standard AML chemotherapy and autologous peripheral blood stem cell transplantation. He also received imatinib (400 mg/day) during the chemotherapy intervals and after transplantation. Molecular remission was achieved at the beginning of the third chemotherapy and he remained in remission until the last follow-up (22 months after diagnosis). To our knowledge, this is the first reported case of de novo AML in which has p210(BCR/ABL1) occurred as a secondary change of inv(16).