Background: Gaucher disease (GD) is the most common lysosomal storage disease and requires long-term enzyme replacement therapy (ERT), which is costly and inconvenient for resource-limited countries such as Thailand. The authors present the case of a 1-year-old boy who was diagnosed with GD type 1 with a homozygous mutation at c.1448 T>C (L444P). He was treated with ERT and matched sibling hematopoietic stem cell transplantation (HSCT) was performed 6 months after the ERT was initiated. At a 3-year follow-up after the HSCT, he had full engraftment and the Lyso-GL1 levels were also at an acceptable level, which indicated disease remission. In conclusion, the authors suggest HSCT for long-term remission of GD in children.

Background:The outcomes of relapsed childhood acute lymphoblastic leukemia (ALL) in developed countries have improved over time as a result of risk-adapted, minimal residual disease-directed therapy, hematopoietic stem cell transplantation, and immunotherapy. There are few studies that have examined survival in relapsed childhood ALL in resource-limited countries. Therefore, this study aimed to assess the prognostic factors and survival outcome of relapsed childhood ALL in a major tertiary center in Southern Thailand. Methods: The medical records of patients with ALL aged <15 years between January 2000 and December 2019 were retrospectively reviewed. The Kaplan-Meier method was used to depict the overall survival (OS). Results: A total of 472 patients with ALL were enrolled and relapsed ALL was found in 155 (32.8%) patients. Of these, 131 (84.5%) and 24 (15.5%) had B-cell and T-cell phenotypes, respectively. One hundred thirteen (72.9%) and 42 (27.1%) patients had early and late relapses, respectively. The most common site of relapse was bone marrow in 102 patients (65.8%). One hundred twenty-eight (82.6%) patients received treatment while 27 (17.4%) patients refused treatment. The 5-year OS of all relapsed patients was 11.9%. The 5-year OS among the patients with early relapse was significantly lower than in the patients with late relapse (5.3% vs. 29.1%, respectively, p <0.0001). Site and immunophenotype were not associated with survival of relapsed ALL. The median survival times among the patients who received and refused relapse chemotherapy were 11.8 and 3.1 months, respectively (p <0.0001). Conclusion: The relapse rate accounted for one third of patients with ALL with the 5-year OS of 12%. Early relapse and those who refused treatment were associated with poor survival outcome.

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Background  Childhood leukemia with musculoskeletal (MSK) involvement mimics various conditions, which consequently leads to diagnostic delays. The clinical implication of MSK involvement in this disease on survival outcomes is inconclusive. This study aimed to compare characteristics and survival outcomes between MSK and non-MSK involvement in childhood leukemia. Methods The medical records of children newly diagnosed with acute leukemia of an age under 15 years were retrospectively reviewed. Two-to-one nearest-neighbor propensity score-matching was performed to obtain matched groups with and without MSK involvement. The Kaplan–Meier method and log-rank test were then used to assess the effect of MSK involvement on survival outcomes. Results Of 1042 childhood leukemia cases, 81 (7.8%) children had MSK involvement at initial presentation. MSK involvement was more likely in children with acute lymphoblastic leukemia than acute myeloid leukemia (p < 0.05). Hematologic abnormalities were less frequent in the MSK involvement group (p < 0.05). The absence of peripheral blast cells was significantly higher in the MSK involvement group (17.3% vs 9.6%, p = 0.04). Normal complete blood counts with absence of peripheral blast cells were found 2.5% of the children with MSK involvement. By propensity score-matching for comparable risk groups of children with and without MSK involvement, the 5-year overall survival was not significantly different (48.2% vs 57.4%, respectively, p = 0.22), nor was event-free survival (43.3% vs 51.8%, respectively, p = 0.31). Conclusion Childhood leukemia with MSK involvement had the characteristics of minimal or absent hematologic abnormalities and peripheral blast counts.

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Background: Few studies have examined survival outcomes in relapsed childhood acute myeloid leukemia (AML) in resource-limited countries. This study aimed to evaluate the prognostic factors and survival outcomes of relapsed childhood AML in Thailand. Methods: The medical records of AML patients aged 0-15 years treated in a major tertiary center in Southern Thailand between December 1979 and December 2019 were reviewed retrospectively. The overall survival (OS) was calculated using the Kaplan-Meier method. Results: A total of 316 AML patients were included and relapse occurred in 98 (31%) patients. Of these, 57 (58.2%) and 41 (41.8%) patients had early [≤1 year from first complete remission (CR1)] and late (>1 year from CR1) relapses, respectively. Only 54 (55.1%) patients received chemotherapy after relapse. The 3-year OS of all relapsed patients was 3.5%. The 3-year OS of patients with early and late relapse were 0% and 8.5%, respectively (p=0.002). The 3-year OS of patients who received chemotherapy and those who did not were 6.5% and 0%, respectively (p <0.0001). The median survival time of patients who did not receive chemotherapy was 1.7 months. The 3-year OS of patients who achieved second complete remission (CR2) and those who did not were 12.6% and 0%, respectively (p <0.001). Conclusion: The relapsed AML rate was 31% and the survival outcome was poor with a 3-year OS of 3.5%. The adverse prognostic factors were early relapse, failure to achieve CR2 and those who did not receive chemotherapy after relapse.

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BACKGROUND: Few studies have examined survival in relapsed childhood acute lymphoblastic leukemia (ALL) in resource-limited countries. The aims of this study were to evaluate the incidence, prognostic factors, and survival of relapsed childhood ALL in Thailand. METHODS: The medical records of patients with ALL aged <15 years in the major tertiary care institution in Southern Thailand between January 2000 and December 2019 were retrospectively reviewed. The Kaplan-Meier method was used to depict the overall survival (OS). RESULTS: A total of 472 patients with ALL were enrolled. The incidence of relapsed ALL was 32.8%. Of the 155 relapsed patients, 131 (84.5%) and 24 (15.5%) had B-cell and T-cell phenotypes, respectively. One hundred thirteen (72.9%) and 42 (27.1%) patients had early and late relapses, respectively. The most common site of relapse was bone marrow in 102 patients (65.8%). One hundred twenty-eight (82.6%) and 27 (17.4%) patients received or refused the relapse chemotherapy, respectively. The 5-year OS of all relapsed patients was 11.9%. The 5-year OS among the patients with early relapse was significantly lower than in the patients with late relapse (5.3% vs. 29.1%, respectively, p <0.0001). Site and immunophenotype were not associated with survival of relapsed ALL. The patients who refused chemotherapy had a median survival time of 3.1 months. CONCLUSION: The relapse rate was one third of patients with ALL. The 5-year OS was 12% and patients who refused chemotherapy had a median survival time of 3 months.