Journal of Pediatric Hematology/Oncology最新文献

We report on a 10-year-old female diagnosed with severe congenital FV deficiency who developed anti-FV inhibitory antibody 3 weeks following dental procedure hemorrhage treated with FFP. The patient presented a large spontaneous gluteal hematoma. Despite multiple FFP transfusions, FV levels remained critically low, prompting suspicion of FV inhibitor development, confirmed by ELISA. Bleeding control was achieved with recombinant factor VIIa. An immune tolerance induction protocol was initiated, and administration of FFP was continued. Factor V inhibitors became undetectable after 1 year and the patient had a favorable clinical evolution without further bleeding episodes. This case reports the successful eradication of FV inhibitor using FFP exposure and immunosuppressive therapy.

t(8;12)(q13;p13)(ETV6::NCOA2) is a rare but recurrent cytogenetic abnormality in childhood leukemia with mixed myeloid/T-cell lineage. We hereby present the first pediatric B-ALL with ETV6::NCOA2. A 5-year-old boy presented with B-ALL residual disease at end-of-induction. He achieved complete remission after therapy intensification, but relapsed 2 months later. Karyotype at relapse showed 46,XY,del(6)(q21q23),t(8;12)(q13;p13),-9,+mar[17]. ETV6::NCOA2 was confirmed by FISH and RT-PCR. Next-generation sequencing revealed a pathogenic NRAS variant. The patient developed severe neutropenia, complicated by bacterial sepsis and death 10 months later. Unlike cases with mixed myeloid/T-cell phenotype, no NOTCH1 mutations were detected. Review of published cases suggests that the presence of additional cytogenetic abnormalities dictates adverse prognosis.

Objective: We aimed to investigate the effects of iron deficiency anemia and serum ferritin deficiency on mental and motor functions in children 1 to 5 years of age and whether these effects could be improved by treatment.

Materials and methods: The study was conducted between February 2021 and July 2021 and included a total of 79 children between 1 and 5 years old. Participants were divided into 3 groups according to their blood results: iron deficiency anemia (n = 19), nonanemic iron deficiency (n = 21), and control group (n = 39). Ankara Developmental Screening Inventory (ADSI) was administered to all participants before treatment. The case groups were subjected to 3-month iron treatment, and participants were reevaluated with ADSI.

Results: The ADSI T-scores of the case groups were significantly lower than the control group. A significant increase in T-scores was observed in both case groups after treatment. In addition, positive and moderate correlation was observed between serum ferritin level and language-cognitive activity, fine-motor development, gross-motor development, and social skills-self-care, and, positive and strong correlation was observed between serum ferritin level and general development and T-scores.

Conclusion: We observed that the decrease in serum ferritin levels, an early indicator of iron deficiency, negatively affected cognitive functions and that this effect could be partially corrected by treatment.

Asparaginase is vital for the treatment of pediatric acute lymphoblastic leukemia (ALL), but it can cause numerous adverse effects, including asparaginase-associated pancreatitis (AAP). Exocrine pancreatic insufficiency (EPI) has been reported following pancreatitis but has not yet been reported in the setting of pediatric leukemia. If undiagnosed, EPI can lead to nutritional deterioration. This series describes 3 cases of severe, necrotizing AAP followed by EPI of variable duration. The purpose of this case series is to document these findings and increase awareness about the association between these conditions to facilitate timely identification and intervention, when warranted.

Methemoglobinemia, a rare and potentially life-threatening condition in pediatric hematology-oncology patients, requires accurate cause identification for effective treatment. We report a case of a 7-year-old boy with acute lymphoblastic leukemia who developed methemoglobinemia during chemotherapy. Initial vitamin C treatment was ineffective, requiring methylene blue. A detailed dietary history revealed the consumption of nitrate-rich vegetables and rapeseed oil, suggesting these as potential triggers. Our literature review highlights the diverse etiologies of methemoglobinemia in this patient population, emphasizing the need for heightened clinical vigilance, and careful differentiation of possible causes to guide appropriate management.

Disseminated intravascular coagulation (DIC) was suspected of being the cause of fatal rewarming deaths in neonatal cold injury (NCI) in the absence of any other known explanation for this complication. It was associated with thrombocytopenia, bleeding, and abnormal clotting studies. Subsequently, this suspicion was questioned because of the reversibility of thrombocytopenia and more recently because of the delineation of a new entity DRT (delayed rewarming thrombocytopenia) that better explained the clinical and laboratory features of this condition. The sudden bleeding that occurs after 24 hours of hypothermia is explained by the reappearance, on rewarming, of the second stage of (irreversible) platelet aggregation that does not occur below 32°C, and the presence of high levels of ADP that leak from erythrocytes. It is recommended that DRT should be treated by rapid rewarming, blocking of the second phase of platelet aggregation or platelet transfusions rather than replacement therapy with several clotting factors that would be appropriate in DIC.

Pegylated asparaginase is now standard in US treatment protocols for acute lymphoblastic leukemia (ALL). However, they are associated with significant side effects, including severe hypertriglyceridemia. In this case series, we report 8 patients with severe (triglyceride >1000 mg/dL) hypertriglyceridemia after receiving long-acting asparaginase for ALL and describe their clinical course. The 8 patients included 3 females and 5 males (aged 2 to 14 y; median=12 y); 7 were Hispanic and 1 was Middle Eastern. The median time from dose to peak hypertriglyceridemia was 17 days and to resolution was 25 days. Presentations included isolated hypertriglyceridemia, pseudohyponatremia, hypoglycemia, and lipemia interfering with complete blood count results. Median length of hospitalization was 3.5 days. Management included hydration, a low-fat diet, omega-3 supplements, fenofibrates, statins, and levocarnitine. An insulin drip was used in 2 patients in the intensive care unit. Asparaginase treatment continued per protocol after triglyceride levels were <1000 mg/dL. In conclusion, severe hypertriglyceridemia can occur after long-acting asparaginase and is typically asymptomatic and transient, not requiring a pause or modification in treatment. We recommend monitoring for hypertriglyceridemia closely in patients with risk factors who are resuming long-acting asparaginase therapy after triglyceride levels fall <1000 mg/dL.

In this study, we analyzed genetic variation and prognostic factors in pediatric primary hemophagocytic lymphohistiocytosis (pHLH) with central nervous system (CNS) involvement, based on data from patients treated at Beijing Children's Hospital between September 2017 and September 2022. A total of 67 pHLH patients were included, with a median age of 4.3 years. Our findings revealed distinct genetic mutation distributions between CNS-pHLH and pHLH without CNS involvement; specifically, CNS-pHLH patients had significantly fewer XIAP mutations but more PRF1 mutations ( P =0.006 and 0.002, respectively). In addition, the 3-year overall survival (OS) rate for CNS-pHLH patients was markedly lower compared with those without CNS involvement (50.2%±18.42% vs. 93.3%±9.02%, P <0.001). Hematopoietic stem cell transplantation (HSCT) was strongly associated with better prognosis in CNS-pHLH patients, yielding a 3-year OS of 82.0%±23.91% in transplanted patients, significantly higher than the 28.6%±19.40% in nontransplanted patients ( P <0.001). Furthermore, a Cox regression analysis identified PRF1 mutation, cerebrospinal fluid (CSF) soluble CD25 levels above 280 pg/mL, and elevated ferritin levels as independent risk factors for poor 3-year event-free survival (EFS) in CNS-pHLH ( P <0.05). These findings suggest that pHLH patients with PRF1 mutations should undergo regular CNS monitoring to prevent disease progression, and that HSCT may improve long-term prognosis in CNS-pHLH cases.

A 10-month-old child presenting with renal tumor with polycythemia, acquired von Willebrand disease, and elevated serum hyaluronic acid, leading to a diagnosis of Wilms tumor. Laboratory profile showed elevated levels of hemoglobin and hematocrit, prolonged aPTT, and high levels of hyaluronic acid and erythropoietin, which normalized after chemotherapy and tumor resection. She had a complete response and has remained in remission. Paraneoplastic syndromes are rare manifestations of Wilms tumor (WT). The simultaneous occurrence of distinct types, as demonstrated in this report (polycythemia, hyperviscosity, and coagulopathy), has not been previously reported. This unique presentation poses a challenge for both diagnostic and clinical management.