p210 BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16).
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).
Key Laboratory of Thrombosis and Hemostasis, Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, 215006, People's Republic of China. daihaiping8@126.com
Hai-ping
HP
Dai
Yong-quan
YQ
Xue
Li-li
LL
Wu
Jin-lan
JL
Pan
Yan-lei
YL
Gong
Ya-fang
YF
Wu
Jun
J
Zhang
De-pei
DP
Wu
Su-ning
SN
Chen
D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001549:Benzamides; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics* / Q000648:ultrastructure; D003131:Combined Modality Therapy; D003561:Cytarabine / Q000008:administration & dosage; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015255:Idarubicin / Q000008:administration & dosage; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D015479:Leukemia, Myelomonocytic, Acute / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D036102:Peripheral Blood Stem Cell Transplantation; D010677:Philadelphia Chromosome; D010879:Piperazines / Q000008:administration & dosage; D011743:Pyrimidines / Q000008:administration & dosage; D012074:Remission Induction
D001549:Benzamides; C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion; D010879:Piperazines; D011743:Pyrimidines; D003561:Cytarabine; D000068877:Imatinib Mesylate; D016044:Fusion Proteins, bcr-abl; D015255:Idarubicin