Chronic myeloid leukaemia (CML) is a myeloproliferative neoplasm arising from a pluripotent haematopoietic stem cell. It is associated with an oncogenic fusion gene BCR-ABL, encoding a protein with tyrosine kinase activity. 1 The emergence of tyrosine kinase inhibitors (TKIs) such as imatinib, nilotinib, dasatinib, and ponatinib has revolutionised the treatment and improved overall survival of patients with CML. Pericardial and pleural effusion, pulmonary oedema, left ventricular failure, arrhythmia, and coronary heart disease have rarely been reported in clinical trials with nilotinib. 2 We report a case of acute coronary syndrome in a young woman treated with nilotinib. A 33-year-old woman presented to Hospital Sultanah Nora Ismail, Johor, Malaysia in February 2017 with first-episode sudden-onset, left-sided chest pain that lasted more than 30 minutes and was associated with nausea, vomiting, palpitations, and profuse sweating. She had been diagnosed with CML 2 years previously and had initially received imatinib with low Sokal score. Her BCR-ABL1 fusion transcript was more than 0.1% after 1 year of treatment, and thus, her treatment was changed to nilotinib 400 mg twice daily, as a second-line TKI. Tyrosine kinase domain mutation analysis was not performed due to lack of resources. She was compliant with medication and showed a good response with her BCR-ABL1 transcript dropping to less than 0.1% after 3 months of therapy. She had no other significant medical or family history. On arrival, she was haemodynamically stable and physical examination was normal. Her initial blood investigations showed normal haemoglobin level (13.6 g/dL), white cell count (8.3 × 10 9 /L), platelet count (240 × 10 9 /L), kidney, and liver function. Her initial electrocardiogram showed T wave inversion over V2 to V6 with a Q wave in lead III. Subsequent electrocardiograms showed evolving ischaemic changes with ST depression over V2 to V6. Her

Background Nilotinib is a tyrosine kinase inhibitor approved by the Ministry of Food and Drug Safety for frontline and 2nd line treatment of Philadelphia chromosome-positive chronic myeloid leukemia (Ph + CML). This study aimed to confirm the safety and efficacy of nilotinib in routine clinical practice within South Korea. Methods An open-label, multicenter, single-arm, 12-week observational post-marketing surveillance (PMS) study was conducted on 669 Korean adult patients with Ph + CML from December 24, 2010, to December 23, 2016. The patients received nilotinib treatment in routine clinical practice settings. Safety was evaluated by all types of adverse events (AEs) during the study period, and efficacy was evaluated by the complete hematological response (CHR) and cytogenetic response. Results During the study period, AEs occurred in 61.3% (410 patients, 973 events), adverse drug reactions (ADRs) in 40.5% (271/669 patients, 559 events), serious AEs in 4.5% (30 patients, 37 events), and serious ADRs in 0.7% (5 patients, 8 events). Furthermore, unexpected AEs occurred at a rate of 6.9% (46 patients, 55 events) and unexpected ADRs at 1.2% (8 patients, 8 events). As for the efficacy results, CHR was achieved in 89.5% (442/494 patients), and minor cytogenetic response or major cytogenetic response was achieved in 85.8% (139/162 patients). Conclusion This PMS study shows consistent results in terms of safety and efficacy compared with previous studies. Nilotinib was well tolerated and efficacious in adult Korean patients with Ph + CML in routine clinical practice settings.

Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea.Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly.Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr).Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (Exact 95% CI, 0.0072-1.5726). Conclusion:The detection rate of GD in probable high-risk patients in Korea was lower than expected. However, the role of hemato-oncologists is still important in the diagnosis of GD.

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