title: Acute promyelocytic leukemia with cryptic t(15;17) on isochromosome 17: a case report and review of literature.
abstract: Acute Promyelocytic Leukemia (APL) is one of the most curable leukemia which shows great sensitivity to all-trans retinoic acid (ATRA) although a small number of the patients present poor prognosis and short survival. Isochromosome 17 in APL which usually bears an additional copy of RARA/PML fusion gene is considered to be a negative factor on its prognosis. Cryptic t(15;17) on i(17q) leads to an extra copy of PML/RARA rather than RARA/PML which may confer a worse prognosis. We describe here a rare APL case with complex chromosomal abnormality including isochromosome 17 bearing cryptic t(15;17) showing poor outcome. The patient lacks a classic t(15;17) and fluorescence in situ hybridization (FISH) presents 2 PML/RARA fusion signals on both long arms of the isochromosome. The patient also acquired a secondary mutation at relapse when the initial karyotype was already a complex karyotype involving chromosome 13, 17 and 22 at the same time. The poor response of this patient to traditional chemotherapy like ATRA and novel therapy like arsenic trioxide (ATO) suggests that early auto-hematological stem cell transplantation may be the choice of APL with isochromosome 17 especially with cryptic t(15;17) on i(17q). We are the first to show a clear history and evidence of FISH of these kind of cases. A small summary of cases with cryptic t(15;17) on isochromosome 17 is also made.
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Yuting
authors.initials: Y
authors.lastname: Tang
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Oncology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Liang
authors.initials: L
authors.lastname: Hu
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Fankai
authors.initials: F
authors.lastname: Meng
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Danmei
authors.initials: D
authors.lastname: Xu
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Kai
authors.initials: K
authors.lastname: Wan
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Lifang
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Chunrui
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, P. R. China.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Zhou
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D000077237:Arsenic Trioxide; D001152:Arsenicals / Q000627:therapeutic use; D001856:Bone Marrow Examination; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D018450:Disease Progression; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D059785:Karyotype; D015473:Leukemia, Promyelocytic, Acute / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D010087:Oxides / Q000627:therapeutic use; D010641:Phenotype; D011237:Predictive Value of Tests; D013997:Time Factors; D014178:Translocation, Genetic; D016896:Treatment Outcome; D014212:Tretinoin / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D000970:Antineoplastic Agents; D001152:Arsenicals; D015514:Oncogene Proteins, Fusion; D010087:Oxides; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein; D014212:Tretinoin; D000077237:Arsenic Trioxide
keywords: Acute promyelocytic leukemia; complex karyotype; cryptic insertion; isochromosome 17
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