A case of desmoplastic small round cell tumour (DSRCT) is presented. This aggressive and rare neoplasm predominantly affects males and is almost exclusively intraabdominal in location. It is unique in that neural, mesenchymal and epithelial markers are co-expressed. Despite multi-modal therapy, the prognosis is extremely poor. The present report details the clinical features and typical pathological findings of DSRCT in an 11-year-old boy, who succumbed to the disease 16 months after diagnosis despite multiple chemotherapeutic regimes.
Candida species is now being increasingly recognised as an important cause of endocarditis especially in immunocompromised patients. A case of Candida albicans endocarditis in a child with acute lymphoblastic leukemia (ALL) is reported. The child did not have a central venous catheter at any time. Treatment consisted of intravenous amphotericin B and fluconazole for 3 weeks followed by oral fluconazole for 2 weeks. No surgical resection was necessary. We highlight here the importance of echocardiography in the management of prolonged febrile neutropenia and discuss the dilemma of continuing chemotherapy in such patients.
We report the occurrence of X-linked lymphoproliferative disease (XLP) in two brothers in a Malaysian family. In this disorder, a primary Epstein-Barr virus (EBV) infection is followed by an abnormal proliferation of transformed B-cells that cannot be controlled by suppressor T-cells, leading to the development of deranged immune function. This results in fatal infectious mononucleosis, acquired hypogammaglobulinaemia, virus-infected haemophagocytic syndrome and non-Hodgkin's lymphoma. The diagnosis should be considered when there is a family history of any male having a fulminant course of infectious mononucleosis, an otherwise benign disease. Early diagnosis is important as bone marrow transplantation is the only curative option in this disorder.
The haematological findings and case history of 3 patients with the association of acute myeloid leukemia and translocation involving the long arm of chromosome no. 11 are presented. The recipient chromosome for the translocated material from chromosome 11 differs in all the three cases being namely chromosomes 1, 10 and 17.
Malignant lymphoma constitutes the third most common childhood malignancy seen at the University Hospital, Kuala Lumpur and can be categorised into Hodgkin's disease and non-Hodgkin's lymphoma. Both diseases demonstrate a higher preference for Chinese males. The majority of patients presented with stage IV disease. High default rate and poor compliance to treatment were associated with poor overall cure rates but encouraging results have been obtained in those who adhered to therapy. There is an obvious need to educate the public on the improved outlook 'or childhood malignancies and 'or earlier referral to help reduce the higher mortality and morbidity associated with advanced disease.
A review of rhabdomyosarcoma in childhood reveals that the pattern and results of treatment have changed with the introduction of multimodal therapy. Outcome in our series have been poor due to advanced disease, poor compliance to follow up resulting from poor socio-economics and educational levels of our patients and their faith in traditional medicine. Improvement in the prognosis can only be anticipated with earlier diagnosis and reduction in defaulter rate.
A review of all cases of nephroblastoma admitted to the University Hospital over a 10 year period reveals that its incidence relative to the other childhood tumours and epidemiological features are similar to other centres. The majority of patients presented with either stage III or IV disease. During the period 1968·1972 the number of defaulters was high and survival was poor. Following the introduction of treatment protocol, default rate has fallen and 5 of 7 patients have survived more than 2 years. Earlier referral and education of the parents should help improve the outcome for children with Wilms' tumour in Malaysia.
A 13 year review at the University Hospital, Kuala Lumpur reveals that chronic myeloid leukaemia (CML) constitutes 4.3% of all childhood leukaemia. Adult type of CML occurs in older children and is associated with marked splenomegaly, leukocytosis and thrombocytosis and the presence of Philadelphia chromosome. Although the initial response to busulphan was encouraging most of the patients succumbed; 2 patients underwent acute lymphoblastic transformation. Juvenile CML occurs in younger children and is associated with less marked splenomegaly, leukocytosis and thrombocytopenia and the presence of elevated fetal haemoglobin levels. The disease is characterised by an acute fulminating course. Despite improved survival in acute lymphoblastic leukaemia, the outlook for chronic myeloid leukaemia in childhood remains poor and treatment needs re-evaluation.
Formerly thought to have a constant incidence rate throughout the world, Wilms' tumour (nephroblastoma) has been shown to be less common among Asian children. A retrospective demographic and morphological study of Wilms' tumour histologically diagnosed over a 22-year period at the Department of Pathology, University Hospital, Kuala Lumpur was conducted to assess for inherent demographic and morphological differences between tumours in Malaysian children and those of Western populations. Thirty-seven cases of histologically proven Wilms' tumour qualified for inclusion in this study. 19 patients were Chinese, 13 Malay, 4 Indian and 1 Anglo-asian. 21 were male and 16 were female (M:F ratio = 1.3:1). Their ages ranged from 1 month to 4 years. 70.3% of the patients were below 2 years of age. 36 cases had unilateral and 1 bilateral tumours. Of unilateral tumours, 19 involved the left kidney and 17 the right. Histological assessment, based on criteria of the National Wilms' Tumor Study Group, revealed 20 (52.6%) tumours with a mixed pattern while 8 (21.1%) showed epithelial, 7 (18.4%) blastemal and 3 (7.8%) stromal-predominant patterns. Anaplasia was observed in only 2 tumours (5.3%). There was no obvious difference in age range and sex distribution, laterality of tumours and incidence of anaplasia between this and Western studies. No ethnic predilection was observed. A notably larger percentage of cases were below 2 years of age. Also, a larger proportion of epithelial-predominant and a lower proportion of blastemal-predominant tumours was observed compared with patterns reported from Western populations.
Immunophenotypic studies using immunofluorescent flow cytometry were performed on the blast cells of 36 patients with acute leukaemia using a panel of eight monoclonal antibodies. Six patients had blasts which co-expressed markers for lymphoid and myeloid differentiation, and which were therefore defined as biphenotypic hybrid acute leukaemia. Of the six, three patients were in the paediatric age group (below 12 years old) while the other three were more than 12 years old. Peripheral blood counts were variable; however, bone marrow infiltration was extensive (blasts > or = 75% in all). At the time of study, remission was achieved in only two patients. The authors' data show that biphenotypic hybrid acute leukaemia is not rare in Malaysia. This represents a subgroup of acute leukaemia identifiable by immunophenotyping but not by the French-American-British classification based on morphological and basic cytochemical studies alone. The recognition of this subgroup is important for both practical and theoretical reasons. There are implications for treatment of the individual patient because treatment directed at a single lineage may not be effective. The two colour flow cytometry proved to be a useful tool for diagnosis and classification of acute leukaemia.
Children who would benefit from a haematopoietic stem cell transplantation often lacked a compatible sibling donor. Unrelated cord blood transplantation was offered as an alternative donor source for patients with a variety of malignant and non-malignant diseases who had no further treatment options. Cord blood units were sourced from various international cord blood registries. The median nucleated and CD34+ cell doses were 8.7 x 10(7)/kg and 2.6 x 10(5)/kg respectively. In spite of adequate cell doses, a high rate of non-engraftment of 32% was observed. Acute graft-versus-host disease (GVHD) occurred in 14 out of the 15 patients who engrafted with 53% being grade III to IV GVHD. The five year disease free survival was 40.7% with infection and GVHD being the commonest causes of death. The five year disease free survival was 20.5% and 60.7% for malignant and non-malignant diseases respectively.
Gaucher Disease may now be treated with enzyme replacement therapy (ERT) or bone marrow transplantation (BMT). Both have their advantages and disadvantages. Results with BMT are curative when successful but limited by the scarcity of an appropriate donor. ERT offers very good relief of symptoms but treatment is lifelong and cost of treatment exorbitant. Patients in developing countries are particularly disadvantaged and management remains a dilemma for both doctor and patient.
The current treatment options for beta thalassaemia major patients include conservative treatment with blood cell transfusions and iron chelation or stem cell transplantation. Regular blood transfusions inevitably lead to multi-organ haemosiderosis and are attended by risks of blood-borne infections. Results from stem cell transplantation are good and suggest that this should be offered as first line therapy when a matched sibling donor is available because the patient is often cured and able to live a normal life. Of 38 Malaysian children who underwent bone marrow or cord blood transplantations using matched sibling donors, 29 (76%) are now cured.
Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with widespread visceral involvement. It is characterised by its unique ability to spontaneously regress and has a typical histological appearance of actin-positive fibroblasts arranged in whorls or fascicles and vessels in a pericytomatous pattern. A male infant with multiple lesions involving the subcutaneous tissue and bone from birth is described and followed-up for two years. Treatment of IMF is dependent on the location of the tumour/s with surgery or chemotherapy reserved for rapidly progressive or symptomatic disease. However, due to the low rate of recurrence and the possibility of spontaneous tumoral regression, therapeutic abstention, as practised in our patient, is justified.
Although survival rates for childhood cancers have improved steadily over the past two decades, the outcome for advanced stage solid tumours remains poor. Many of these tumours are chemosensitive but most chemotherapeutic regimens are limited by their haematological toxicities. Much attention is now focused on mega-dose chemotherapy followed by stem cell rescue in the treatment of disseminated neuroblastoma, rhabdomyosarcoma, germ cell tumour and brain tumours. There is a preferential shift towards peripheral blood stem cell transplantation instead of bone marrow transplantation because of its advantages of faster engraftment, decreased transfusion and antibiotic usage and shortened hospitalisation. This mode of therapy is dependent on technologies including peripheral blood stem cell harvesting, cell cryopreservation and thawing. These technologies were recently made available in Malaysia and we report our early experience.
Blood pressure examination was done manually in 1756 healthy school children aged 6-12 years. Korotkoff 1 represented the systolic blood pressure (SBP) and Korotkoff 5 was taken as the diastolic blood pressure (DBP). Blood pressure percentile charts were then drawn up based on age group and sex regardless of ethnicity. There was a significant correlation between both SBP and DBP to increasing height, weight and body mass index.
Second malignant neoplasms (SMN) are an increasingly recognized late complication seen in childhood cancer survivors. A total of 3 cases of SMN have been found in the Department of Paediatrics, University Hospital Kuala Lumpur after a 15-year experience of treating childhood malignancies. Two cases are described here. The first developed abdominal non-Hodgkin's lymphoma 3 years after undergoing an allogeneic bone marrow transplant for second relapse of acute lymphoblastic leukaemia, while the second child developed myeloid leukaemia two years after completing treatment for acute lymphoblastic leukaemia. Progress in the management of childhood cancer in Malaysia and the availability of bone marrow transplantation facilities have increased the number of childhood cancer survivors; leading to increased incidence of SMN.
Haemophagocytic Lymphohistiocytosis (HLH) is a rare clinical illness with a high mortality. There are reported effective treatment and a favourable outcome if diagnosed early. Five cases of childhood non-familial HLH seen over a 3 year period in our hospital are presented. The diagnosis was not suspected in the referring hospitals even after a bone marrow biopsy examination in two cases. Delay in referral was between 2 weeks to 2 months. A viral trigger was detected in only two cases. There were two deaths. Cause of death in both cases were cytomegalovirus pneumonitis and disseminated intravascular coagulopathy. Respond to treatment was better if started earlier. One case spontaneously resolved. Earlier diagnosis will lead to prompt treatment and a better outcome.
Two 4-year-old monozygotic Chinese, female twins developed concordant childhood acute lymphoblastic leukemia (ALL) within an interval of about 2 weeks. Based on morphology and cytochemistry findings of the bone marrow blast cells, a diagnosis of ALL, L1 was made. Immunophenotyping showed the blast cells of both twins expressed similar antigens, i.e. HLA-DR, CD10, CD13, CD19, CD22 and CD34. Identical blood group, same HLA (human leucocyte antigen) genotype, sex and similar appearance suggest that the twins are monozygotic. Since the bone marrow leukemic cells of both twins were identical in morphology and expressed the same antigens with almost similar percentages of positivity, it is likely that the blast cells were derived from the same single clone. Based on the single clone hypothesis, the leukemogenic event must have arisen in utero in one twin and the cells from the abnormal clone then spread to the other twin via shared placental anastomoses.