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MLL‐CBP fusion transcript in a therapy‐related acute myeloid leukemia with the t(11;16)(q23;p13) which developed in an acute lymphoblastic leukemia patient with Fanconi anemia
Author(s) -
Sugita Kenichi,
Taki Tomohiko,
Hayashi Yasuhide,
Shimaoka Hagane,
Kumazaki Hisami,
Inoue Hirokazu,
Konno Yukihiro,
Taniwaki Masafumi,
Kurosawa Hidemitsu,
Eguchi Mitsuoki
Publication year - 2000
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(200003)27:3<264::aid-gcc6>3.0.co;2-#
Subject(s) - fanconi anemia , myeloid leukemia , fusion transcript , medicine , aplastic anemia , chemotherapy , leukemia , fusion gene , karyotype , myeloid , acute leukemia , cancer research , immunology , oncology , biology , bone marrow , gene , chromosome , dna repair , genetics
We describe a boy with Fanconi anemia (FA) who developed acute lymphoblastic leukemia (ALL) (FAB‐LI) followed by acute myeloid leukemia (AML) (FAB‐M5) at relapse. The patient was diagnosed with early pre‐B‐cell ALL without preceding aplastic anemia and was treated with ALL‐oriented chemotherapy which included doxorubicin (a total dose of 140 mg/m 2 administered), which is a topoisomerase II inhibitor. Complete remission was obtained, but after 38 weeks AML developed. The karyotype of ALL cells at diagnosis showed 46,XY, and that of AML cells at relapse was 46,XY, t(11;16)(q23;p13). An MLL gene rearrangement and MLL‐CBP chimeric mRNA were found in AML, but not in ALL. A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy‐related t(11;16)‐AML resulting in an MLL‐CBP fusion. Further examination of such patients would shed light on leukemogenesis in FA patients. Genes Chromosomes Cancer 27:264–269, 2000. © 2000 Wiley‐Liss, Inc.