Tetraploid/near-tetraploid acute promyelocytic leukaemia with double (15;17) translocation.

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.

Anxiety and depression in patients with haematological neoplasms in Malaysia.

BACKGROUND: It is not uncommon that anxiety and depression occur in patients with cancers, and past researches have shown that the quality of life of patients is negatively affected. This study aims to determine the prevalence of anxiety and depression of patients with haematological cancers in Malaysia and to investigate the possible association of these psychological symptoms with their quality of life. METHODS: This is a cross-sectional study where patients with haematological cancers attending two major hospitals were recruited. Anxiety and depression symptoms were assessed using the Hospital Anxiety and Depression scale (HADS). Quality of life (QoL) of these patients was measured using the European Organisation for Research and Treatment of Cancer quality of life questionnaire (EORTC QLQ C30). An overall summary QoL score in combination with financial difficulty score and global health score were used for analysis. RESULTS: A total of 319 patients were recruited. Thirty-three percent of patients had anxiety symptoms, 23.5% had depression symptoms. In summary the overall score of QoL is significantly lower in patients with higher scores for depression and anxiety, (p<0.05). Patients who exhibit anxiety symptoms were more frequently female, still undergoing treatment whereas patients who had higher depression scores were older and had acute leukemias or myeloproliferative neoplasms. Patients who have depression are significantly associated with a higher financial difficulty score, p<0.05. CONCLUSION: The poor quality of life in patients who have anxiety and depression should raise awareness amongst the health professions treating them so that additional support can be provided.

A new complex translocation (8;22;21)(q22;q12;q22) in RUNX1/RUNX1T1 acute myeloid leukaemia.

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).

Influence of genetic polymorphisms of cytokine genes in the outcome of HLA-matched allogeneic stem cell transplantation in a South East Asian population.

Non-HLA gene polymorphisms have been shown to be associated with the risk of graft-versus-host disease (GVHD) and outcome of allogeneic haematopoietic stem cell transplantation (AHSCT). This study aims to investigate the role of IL6, TNFα, IL10, IL2 and IL12 gene polymorphisms in the outcome of AHSCT in a South East Asian population. A total of 67 patients and 59 donors who underwent HLA-identical matched sibling AHSCT were available for analysis. There was no significant association between the different cytokine genotypes of patients with the incidence and severity of acute GVHD. Patients with IL2 166∗T allele and patients who received donor stem cells who had IL2 166∗G allele appeared to have reduced incidence of cGVHD. Patients who received donor stem cells with IL12 1188∗C allele are found to be associated with better disease free survival. These results suggest a possible role of IL2 and IL12 gene polymorphisms in the outcome of AHSCT in a South East Asian population.

Enteropathy-associated T-cell lymphoma: An extremely rare cause of chronic diarrhoea.

Chronic diarrhoea in tropical countries may be due to a myriad of causes from infective to non-infective. This case report illustrates the challenges faced in the investigation of a middle-age Chinese gentleman who presented with chronic diarrhoea and weight loss. The diagnosis of type II enteropathy-associated T-cell lymphoma (EATL) was finally made. The diagnosis of EATL was least suspected as the condition is almost unheard of in this part of the world. The epidemiology, presentation, diagnosis, management and prognosis of this rare condition are discussed.

Helicobacter pylori infection in chronic immune thrombocytopenic purpura patients in Malaysia.

INTRODUCTION: Helicobacter Pylori has been implicated with a possible link to immune thrombocytopenia purpura (ITP) and studies have shown contradicting results in platelet recovery after eradication of H pylori infection. OBJECTIVES: To determine the prevalence of H pylori infection in adult ITP patients in Malaysia and to examine the effect of eradication of H pylori infection in these patients. METHOD: 50 ITP adult patients from haematology clinics were recruited. A 13C urea breath test for H. pylori infection was performed in all patients. Those with H. pylori infection were treated with standard eradication regimen. Platelet counts were monitored regularly after eradication therapy to assess response. Complete response (CR) was defined as the achievement of platelet counts of >150x10(9)/L within 3 months after eradication therapy and partial response (PR) was defined as platelet count above 50x10(9)/L and/or at least doubling the baseline count. RESULT: The median age of patients recruited was 50 years. The majority of patients were female (76%). Chinese was the largest ethnic groups (56%) followed by Malays (28%) and Indians (16%). 11 of the 50 patients (22%) were found to have H. pylori infection and all but one had eradication therapy. Overall, some response was observed in 3 patients (30%) with a CR seen in 2 patients and PR in one patient. However, all these patients had a drop in their platelet counts at 6th month follow up. CONCLUSION: The prevalence of H. pylori infection is relatively low in our adult ITP patients (22%) and by eradicating the infection did not have any sustained effect in the platelet recovery.