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 leukaemiaretinoic 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 transcriptionpolymerase 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.

A simple surface plasmon resonance biosensor for detection of PML/RARα based on heterogeneous fusion gene-triggered nonlinear hybridization chain reaction

“…Some conventional methods have been reported for detection of PML/RARα, such as flow cytometry 4 , real-time quantitative reverse transcription PCR 5 , chromosome analysis 6 , fluorescence in situ hybridization 7 , 8 and microarray-based techniques 9 , etc. However, these techniques suffer from the intrinsic limitations of complicated preparation, low specificity and expensive reagent 10 , 11 .…”

An infertile case of 47,XYY syndrome without autistic spectrum: Cost effective well-define of extra Y chromosome by GTG, C bandings, QF-PCR and FISH analyses

“…The common aneuploidies include monosomy X, trisomy 21, trisomy 18 and trisomy13 and trisomy Y in human. While the autosomal aneuploidies cause serious malformations, but the sex chromosomal aneuploidies may cause less severe abnormalities [1][2][3][4] . The "gold standard" method for the detection of these autosomal and/or sex chromosal abnormalities of aneuploides is conventional cytogenetic analysis of phytohemagglutinin-stimulated peripheral blood karyotype analysis.…”