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  1. Tay Za K, Jayaranee S, Shanmugam H
    Malays J Pathol, 2020 Apr;42(1):51-57.
    PMID: 32342930
    INTRODUCTION: Lupus anticoagulant (LA) is a well-known risk factor for thrombosis. Correct diagnosis of LA is essential in patient management with anticoagulation. The objectives of this study were to document the clinical and laboratory characteristics of patients tested for LA and to evaluate existing LA testing methods in our laboratory with the aim of improving the performance of LA test interpretation and reporting.

    METHODS: Tests for LA include dilute Russell's viper venom time (dRVVT) and Kaolin clotting time (KCT). Patients with LA ratio (dRVVT screen ratio/dRVVT confirm ratio) of ≥1.2 were considered as LA positive irrespective of KCT results. KCT was considered positive if there was a prolongation in KCT screening test which was not corrected on mixing with normal plasma.

    RESULTS: Of 577 patients' results, 295 were normal, 178 were KCT positive with negative dRVVT and 104 were LA positive. Incidences of thrombosis, connective tissue disease (CTD) and bad obstetric events were noted in 13%, 16% and 44% of normal patients, 9%, 22% and 49% of KCT+ patients and 23%, 37% and 17% of LA+ patients respectively. On further evaluation of dRVVT screen ratios, 431 had a ratio of <1.1, 59 had a ratio between 1.1 and 1.2 and 87 had a ratio of >1.2. Positive LA results were found in 3%, 29% and 87% of patients with dRVVT screen ratios of <1.1, 1.1 - 1.2 and >1.2 respectively.

    CONCLUSION: LA+ patients had higher incidences of thrombosis and CTD as compared to normal and KCT only positive patients. There was no significant difference in clinical characteristics between normal and KCT+ patients which suggests the presence of a high rate of false-positive KCT results. Since confirmatory testing for KCT is not widely used, the option of using another LA screening test method should be considered. In regard to dRVVT testing, confirmatory test should only be performed in patients with prolonged dRVVT screening result which was not corrected upon mixing with normal plasma as required by the International Society of Thrombosis and Haemostasis guidelines on LA testing. This practice will not only result in significant cost reduction but also avoid diagnostic confusion.

  2. Tay Za K, Shanmugam H, Chin EFM
    Malays J Pathol, 2019 Dec;41(3):333-338.
    PMID: 31901918
    INTRODUCTION: Acute myeloid leukaemia (AML) with t(8;21)(q22;q22) producing RUNX1-RUNX1T1 rearrangement is a distinct sub-type which is usually associated with a favourable clinical outcome. Variant forms of t(8;21) are rare. Herein we describe a novel variant of t(8;21) AML in a 25-year-old pregnant woman who presented with intermittent fever.

    CASE REPORT: Her peripheral smear and bone marrow aspirate showed many myeloblasts. Chromosomal study revealed t(8;22;21)(q22;q12;q22) and loss of X chromosome. Fluorescence in situ hybridization (FISH) using whole chromosome painting probes confirmed the three-way translocation involving chromosomes 8, 21 and 22. RUNX1-RUNX1T1 rearrangement was identified in FISH and reverse transcriptase polymerase chain reaction confirming the diagnosis of AML with variant t(8;21). The patient was treated with standard chemotherapy. She achieved morphological remission one month after induction chemotherapy.

    DISCUSSION: Although the clinical significance of variant t(8;21) is not well delineated, the evaluation of 31 such cases suggests patients with variant t(8;21) have similar prognosis to those with classical t(8;21).

  3. Tay Za K, Jackson N, Chin EFM
    Malays J Pathol, 2020 Apr;42(1):127-130.
    PMID: 32342942
    A 57-year-old man presented with intermittent fever and bleeding following dental surgery. Peripheral smear and bone marrow aspirate exhibited unusually large and bizarre-looking abnormal cells which were found to be myeloblasts with aberrant CD56 and CD2 expression on immunophenotyping. Fluorescence in situ hybridization analysis revealed an extra RARA gene rearrangement. This finding correlated well with a near-tetraploid karyotype with double t(15;17)(q22;q21). Bcr-3 type PML/ RARA copies were identified in reverse transcriptase-polymerase chain reaction. The diagnosis of near-tetraploid acute promyelocytic leukaemia (APML) was established. The patient was treated with all-trans retinoic acid and idarubicin and six weeks later achieved complete remission. Tetraploid/ near-tetraploid APML is exceedingly rare. It is a distinct cytogenetic subgroup with unique clinical and biological features as highlighted by atypical morphology, frequent CD2 expression and association with the bcr-3 type PML/RARA fusion transcripts. Early recognition of this rare entity is essential for timely and appropriate treatment.
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