title: Acute promyelocytic leukaemia with a PML-RARA insertional translocation and a chromosome 21 abnormality in XYY syndrome: case report.
abstract: The concomitant presence of the XYY syndrome with haematological malignancies is rare. This report presents a case of acute promyelocytic leukaemia (APL) with the promyelocytic leukaemia-retinoic acid receptor alpha (PML-RARA) gene insertional translocation and a chromosome 21 abnormality in a 29-year-old XYY male patient. Karyotype analysis revealed an abnormal karyotype of 47,XYY [14]/46,XYY,-21[16]. Fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analysis showed the existence of a PML-RARA fusion gene. The patient was treated by all-trans retinoic acid (ATRA) and chemotherapy. Laboratory results revealed that the coagulopathy improved and the patient achieved complete remission, based on bone-marrow morphology. The patient then received sequential monthly therapy using arsenic trioxide, followed by ATRA, followed by chemotherapy; he has survived disease-free for 36 months. Our findings suggest that the additional chromosomal abnormalities involving the sex chromosomes and chromosome 21 did not affect the prognosis of APL, and that the sequential treatment strategy had a good clinical effect without being associated with severe side-effects.
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: He
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Xudong
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Dongning
authors.initials: D
authors.lastname: Wang
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Erhong
authors.initials: E
authors.lastname: Zhang
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Hu
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Wenwen
authors.initials: W
authors.lastname: Wang
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China.
authors.forename: Renwei
authors.initials: R
authors.lastname: Huang
authors.affiliation: Department of Haematology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China rose.xiao@nasyn.com.
authors.forename: Ruozhi
authors.initials: R
authors.lastname: Xiao
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D000077237:Arsenic Trioxide; D001152:Arsenicals / Q000627:therapeutic use; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010087:Oxides / Q000627:therapeutic use; D025064:Sex Chromosome Disorders / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D016896:Treatment Outcome; D014212:Tretinoin / Q000627:therapeutic use; D014997:XYY Karyotype / Q000235:genetics*
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 leukaemia; PML-RARA insertional translocation; XYY syndrome; additional chromosomal abnormalities; all-trans retinoic acid