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Acute Promyelocytic Leukaemia with a PML-RARA

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Acute Promyelocytic Leukaemia with a PML-RARA Case Report Journal of International Medical Research 2014, Vol. 42(6) 1363–1373 Acute promyelocytic ! The Author(s) 2014 Reprints and permissions: leukaemia with a PML-RARA sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/0300060514540630 insertional translocation and imr.sagepub.com a chromosome 21 abnormality in XYY syndrome: Case report Yi He*, Xudong Li*, Dongning Wang, Erhong Zhang, Yuan Hu, Wenwen Wang, Renwei Huang and Ruozhi Xiao 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. Keywords Acute promyelocytic leukaemia, XYY syndrome, additional chromosomal abnormalities, PML-RARA insertional translocation, all-trans retinoic acid Date received: 19 February 2014; accepted: 28 May 2014 *These authors contributed equally to this work and are co-first authors. Corresponding author: Dr Ruozhi Xiao, department of Haematology, The Third Department of Haematology, The Third Affiliated Hospital Affiliated Hospital of Sun Yat-sen University, 600 Tianhe of Sun Yat-sen University, Guangzhou, Guangdong Road, Guangzhou 510630, Guangdong Province, China. Province, China Email: [email protected] Creative Commons CC-BY-NC:This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (http://www.uk.sagepub.com/aboutus/openaccess.htm). 1364 Journal of International Medical Research 42(6) anaemia and multiple petechiae on the Introduction bilateral thighs and buttocks, but without The male sex chromosome aneuploidy superficial lymphadenopathy or hepatosple- 47,XYY is common, with a prevalence nomegaly. His peripheral blood count was ranging between 14.2 and 375 persons per as follows: white blood cell (WBC) count 100000 in newborn boys; it is associated with 0.5 Â 109/l; red blood cell count 2.63 Â 1012/ tall stature, verbal learning disabilities and l; haemoglobin 85 g/l; and platelet count attention deficits.1,2 Behavioural features 17 Â 109/l. The results of a disseminated described in XYY syndrome include intravascular coagulation (DIC) test were increased risk of impulsivity and difficulties as follows: prothrombin time 18.5 s (refer- related to behavioural deregulation.3 In ence value 11–14.5 s); fibrinogen 1.0 g/l (ref- contrast to 47,XXY Klinefelter syndrome, erence value 2–4 g/l); active partial boys with XYY syndrome have normal thromboplastin time 40.6 s (reference value pubertal development and testosterone 28–40 s); thrombin time 17.1 s (reference levels.4 value 14–21 s); D-dimer >20 mg/ml (refer- Acute promyelocytic leukaemia (APL) is ence value 0–0.5 mg/ml); plasma protamine a speciEc subtype of acute myeloid leukae- paracoagulation test (þ). He had normal mia. The t(15;17)(q22;q21) translocation is testosterone levels and had been married for found in 98% of patients with APL,5 which 5 years but had no offspring. Hepatic and reFects the molecular rearrangement of the renal functions were normal and B ultra- promyelocytic leukaemia (PML) gene. sound showed no abnormality in the liver, Additional chromosomal abnormalities spleen or kidney. His parents and his (ACA) can also be found in patients with brother were healthy. APL in addition to t(15;17)(q22;q21).6,7 The The blast percentage and assessment of prognostic significance of ACA in APL is maturation degree were determined by per- unclear to date, but ACAs can involve any forming a 200-cell leucocyte differential human chromosome. To the best of our count on peripheral blood smears and a knowledge, there have been no previous 500-cell differential count on bone-marrow reports on the coexistence of XYY syn- aspirate smears stained with Wright-Giemsa drome with APL. The present case report stain. Cytochemical tests included myelo- describes a man with XYY syndrome diag- peroxidase (POX) reaction, periodic nosed with APL with a PML-RARA inser- acid-Schiff (PAS) reaction and nonspecific tional translocation and chromosome 21 esterase (NSE) reactions. The bone-marrow abnormalities. characteristic showed marked hyperplasia and the granulocytic cell/erythrocytic cell ratio was 40.7. The granulocytic series Case report accounted for 87.5% of the cell population A 29-year-old male was admitted to the with 68.5% of promyelocytes and 14.5% of Department of Haematology, The Third myeloblasts. Promyelocytes were of uneven Affiliated Hospital of Sun Yat-sen cell size with irregular nuclear shapes, University, Guangzhou, Guangdong including being cupped, distorted, folded, Province, China in July 2011 complaining segmented and binucleate. The nucleoli were of repeated fever that had lasted for 2 weeks. obvious and the cytoplasm was filled with His height was 180 cm and weight was 80 kg. pink granules. Cells occasionally had visible He had normal intelligence and did not Auer rods and cytoplasmic projections. The exhibit aggressive behaviour. Physical exam- erythroid lineage showed normal morph- ination showed that he had moderate ology but was severely inhibited by a He et al. 1365 Figure 1. Analysis of a bone-marrow smear from a 29-year-old male who presented with repeated fever that had lasted for 2 weeks revealed the replacement of normal bone-marrow cells by promyelocytic leukaemia cells (Wright-Giemsa stain). The colour version of this figure is available at: http://imr.sagepub.com. Scale bar 10 mm. proportion of 2% in the sample. Lakes, NJ, USA) including antihuman Lymphocytes of normal morphology were cluster of differentiation CD2, CD7, obviously reduced. Megakaryocytes in the CD10, CD19, CD20, CD13, CD33, whole slide could not be found; and platelets CD14, CD34, CD117 and human leucocyte were widely distributed and extremely rare antigen HLA-DR antibodies. Flow cyto- (Figure 1). Cytochemically, the blasts were metric analyses were performed on a BD negative for PAS and NSE and positive for FACSCaliburTM system with BD POX. CellQuestTM software (Becton Dickinson). Bone-marrow samples were cultured for Abnormal cell groups with high-side scat- 24 h and peripheral blood samples were ter that resembled granulocytes were cultured for 72 h at a concentration of 1– observed. Immunophenotypic analysis of 2 Â 106 cells/ml, following standard the blasts demonstrated the following: procedures. R band was performed, and positive for CD13, CD33, and CD117; chromosomes were identiEed and analysed negative for CD34, HLA-DR, CD2, CD7, according to the International System of CD10, CD19, CD20, and CD14. Human Nomenclature (ISCN 2005), which Fluorescence in situ hybridization (FISH) defines the karyotype.8 Cells harvested from was performed to analyse the PML-RARA the bone-marrow sample were dropped onto gene rearrangement involving the four microscope slides. Karyotypes were t(15;17)(q22;q21) and the sex chromosome determined as follows: 47,XYY [14]/ abnormalities. Dual colour-dual fusion 46,XYY,–21[16] and did not show PML/RARA and X/Y centromere probes t(15;17)(q22;q21) (Figure 2). were used (Cytocell, Cambridge, UK). The Bone-marrow aspirate was labelled by a PML/RARA DNA probe hybridizes to panel of directly conjugated monoclonal chromosome 15q22 (spectrum red for the antibodies (Becton Dickinson, Franklin PML gene) and 17q21.1 (spectrum green for 1366 Journal of International Medical Research 42(6) Figure 2. Karyotype analysis of a bone-marrow sample from a 29-year-old male demonstrated 47,XYY[14]/ 46,XYY,–21[16] chromosomal abnormalities. Aberrant chromosomes are indicated by arrows. the RARA gene), so the fusion gene is yellow of them had a 2R1G1Y signal pattern, (Y). The X chromosome is marked in green implying a PML-RARA insertional trans- (G) and the Y chromosome in red (R), so the location (Figure 3A); this was confirmed by normal female has a 0R2G signal pattern metaphase FISH analysis (Figure 3B). and the normal male displays a 1R1G signal When the X/Y probe was used, 100% cells pattern. Briefly, the sample of bone marrow had a 2R1G signal pattern, indicating that was dropped onto glass slides and air-dried. cells from the patient had two Y chromo- The slides were immersed in 2Â saline somes (Figure 4). In order to rule out sodium citrate (SSC) at 37C for 30 min, whether the additional Y chromosome was then rinsed in a graded series of ethanol associated with leukaemia, karyotypes of (70%, 85% and 100%, each concentration peripheral blood cells were analysed during was applied for 2 min) at room temperature the complete remission period. They were and air-dried. Slides were hybridized for 16 h found to have 47,XYY, which confirmed at 37C in a humidified chamber. After that, that the abnormal Y chromosome was slides were washed in 0.4Â SSC/0.3% NP-40 caused by congenital anomalies.
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