Journal of Pediatric Hematology/Oncology最新文献

Background: Rhabdomyosarcoma (RMS) typically responds well to a combination of treatments with favorable prognosis in children 1 to 9 years old. However, infants may fare worse due to receiving less aggressive local therapy for concerns about long-term effects of surgery/radiation. This study investigates the clinical characteristics, treatment approach, and survival outcomes of RMS in children under 2.

Methods: We reviewed retrospectively children younger than 2 years with newly diagnosed RMS treated from January 2002 until December 2022 at King Hussein Cancer Center. Demographics, clinical characteristics, and outcomes were analyzed. Statistical analysis included descriptive statistics and survival analysis using Kaplan-Meier methods. All cases were reviewed in a multidisciplinary clinic comprising experienced radiotherapists and surgeons.

Results: We identified 34 cases of RMS in patients younger than 2 years at diagnosis. The median age was 13 months, with 70.6% males. The most common tumor site was bladder/prostate (N=13, 38%), followed by orbit (N=5, 14.7%), the predominant subtype was embryonal (N=30). Risk-stratification categorized 17.6% as low-risk and 79.4% as intermediate-risk. Twenty-five patients had tumors >5 cm, with metastasis in 6 (17.6%). All patients received neo-adjuvant chemotherapy, local control was by radiotherapy only (n=12, 35.3%), combined surgery and radiotherapy (n=11, 32.4%), or surgery alone (n=3, 8.8%). The 5-year event-free and overall survival rates were 55.1% and 57.5%, respectively. Fourteen patients experienced relapse/progression, with local relapse the most common pattern. TNM stage, clinical group, metastasis at diagnosis, and radiotherapy use significantly impacted survival.

Conclusions: Children under 2 years of age with RMS face significant challenges, with high local recurrence rates and suboptimal survival outcomes compared with older pediatric patients. Our findings highlight the need for tailored treatment approaches that balance effective local control with minimizing long-term toxicity.

Adamantinomatous craniopharyngiomas (ACPs) are rare, sellar-suprasellar benign tumors that cause considerable morbidity and mortality due to local invasion and treatment-related damage to surrounding structures, including central diabetes insipidus (CDI). Trametinib is a highly selective inhibitor of MEK1 and MEK2, which has been evaluated in both adult and pediatric cancers/ tumors with activation of the oncogenic mitogen-activated protein kinase (MAPK) pathway. Despite being thought to have fewer side effects than conventional cytotoxic chemotherapy, off-target toxicities such as hyponatremia have been described. The use of MEK inhibitors in ACPs are limited to case reports and a phase II trial is currently underway. We report a pediatric patient with multiply progressive ACP and known brittle CDI who developed severe hyponatremia associated with a significant decrease in desmopressin dosing after starting trametinib and a rapid rebound of desmopressin requirement with its cessation. We recommend close monitoring of serum sodium levels and a review of desmopressin doses in patients with CDI when started on treatment with MEK inhibitors.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder characterized by abnormalities in platelet aggregation, resulting from quantitative or qualitative defects in integrins αIIb and β3. Currently, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only potentially curative therapeutic approach for severe GT. In this report, we present 2 children with GT that underwent successful allo-HSCT, along with 2008 to 2022 data from the Center for International Blood and Marrow Transplant Research and a summary of the existing literature providing further evidence that allo-HSCT can be a curative approach that prevents severe and life-threatening bleeding in GT. Our cases empathize the importance of monitoring flow cytometric platelet integrin αIIb (GPIIb) and β3 (GPIIIa) detection in identifying potential late graft rejection, which is a more direct assessment of platelet populations, particularly in the case of pretransplant presence of platelet antiglycoprotein GPIIb/IIIa complex antibodies.

Wilms tumor (WT) is the most common pediatric renal neoplasm, and Teratoid Wilms' tumor (TWT) is a rare histologic variant of WT, which consists predominantly of well-differentiated heterologous mesenchymal and/or epithelial elements. We report a case of TWT in a toddler who presented with an incidentally detected abdominal lump. Trucut biopsy was suggestive of WT with rhabdomyomatous differentiation. Six weeks of neoadjuvant chemotherapy was given with minimal response. Radical nephroureterectomy with lymph node sampling was performed and histopathology was suggestive of TWT. The child is asymptomatic and disease-free at follow-up.

Background: YWHAE::NUTM2B fusion-positive undifferentiated sarcomas in infants have been recently described as molecular characterization increases to classify challenging solid tumor cases. The impact of this molecular distinction on clinical behavior remains unclear, posing significant challenges for treatment decision-making.

Methods: Data were obtained from the patient's medical record, including the diagnostic workup and management. A review of previously published cases was performed..

Results: We present a case of congenital undifferentiated retroperitoneal sarcoma harboring a YWHAE::NUTM2B fusion, highlighting the potential significance of brain imaging surveillance in disease management.

Conclusion: This case, combined with others, reveals a potential pattern of central nervous system (CNS) metastasis within this molecular subgroup, thus highlighting the importance of brain surveillance imaging and the relevance of CNS-penetrant chemotherapy-based regimens.

Pancreatoblastoma constitutes the most common malignant pancreatic tumor in children. Pancreatoblastomas are rare and data to generate evidence-based management guidelines are limited. A literature review and pooled data analysis of cases 18 years old or younger with relapsed pancreatoblastoma (RP) was performed to describe their prognosis and management. The 2-year overall survival post-relapse (OS-pr) for patients with RP (n=15) was 54.4% (95% CI: 32.5%-71.6%). On the basis of surgery at relapse, the 2-year OS-pr was 85.7% (95% CI: 59.8%-96.1%) for cases who underwent surgery (n=9) versus 16.7% (95% CI: 1.1%-44.9%) for nonsurgical cases (n=6); P=0.003. This study shows that patients with RP can be salvaged and supports pursuing treatment with curative intent, including maximal safe resection where feasible.

Post-transplant lymphoproliferative disorder (PTLD) is a complication of immunosuppressive therapy following solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). Although PLTD usually presents as B-cell proliferation, plasmacytoma-like PTLD, a rare subtype of monomorphic PTLD, has been described, mostly in SOT recipients. Only 2 cases of this disease entity have been previously reported in patients after HSCT. While the treatment of choice for PTLD is the reduction of immunosuppression combined with rituximab (anti-CD20 monoclonal antibody), the optimal treatment for PTLD with plasmacellular differentiation, which is often CD20-negative, is unknown. We present a case of monomorphic plasmacytoma-like PTLD in a child who received an allogeneic HSCT for relapsed acute lymphoblastic leukemia. He was successfully treated with a myeloma-based approach using an anti-CD38 monoclonal antibody, daratumumab.

Teratoid Wilms Tumor (TWT) is a rare renal malignancy that can masquerade as a cystic dysplastic kidney in young children. We report a 3-month-old child with a prenatally detected left renal cystic lesion initially diagnosed as multicystic dysplastic kidney (MCDK). Atypical imaging findings prompted further evaluation, revealing TWT. Histopathology confirmed heterologous elements and focal Wilms tumor components. This case underscores the need for vigilance in cystic renal lesions, as early recognition of malignancy alters management and improves outcomes.

Purpose: In children with Langerhans Cell Histiocytosis (LCH), FDG-PET/CT is used for staging and response assessment. Whole-body MRI (WB-MRI) can serve as an ionizing radiation-free alternative for repeated whole-body imaging. The aim of this study was to compare WB-MRI with FDG-PET/CT for staging and response assessment in pediatric LCH.

Methods: This was a prospective cohort study conducted at an apex tertiary care center from August 2021 to March 2023 after approval from the Institutional Ethics Committee. WB-MRI was done in biopsy-proven cases of LCH, 18 years old or less, undergoing FDG-PET/CT for staging or response assessment. With FDG-PET/CT as the reference standard, diagnostic accuracy and agreement for stage and response assessment were calculated. Assessment of impact on clinical management and image quality was done.

Results: Eleven patients of LCH (F:M=5:6, mean age: 6.95 y) were included. Diagnostic accuracy and agreement were 90.6% and 80% (kappa: 0.69) at baseline; 96% and 83.3% (kappa: 0.74) at follow-up, respectively. Clinical management was altered in 2 of 11 patients based on WB-MRI. Image quality was rated as 3.91 +/-1.30 and 4.82 +/- 0.40; artifacts 3.82 +/- 1.33 and 4.55 +/- 0.52 in 11 scans for DWI and STIR, respectively (1 worst, 5 best).

Conclusion: Diagnostic accuracy and absolute agreement of WB-MRI were high at baseline and follow-up in LCH. WB-MRI can provide a radiation-free alternative to FDG-PET/CT in children with LCH.

Background: While pegylated Escherichia coli asparaginase (PEG) is an integral component of leukemia and lymphoma treatment, hypersensitivity reactions (HSR) remain a common adverse event, often resulting in adjustments to the treatment regimen, increasing the burden on patients and families. HSR to asparaginase often indicates a transition to Erwinia asparaginase (ERW), which requires patients to return to the hospital 6 times for subcutaneous injections to replace one dose of IV PEG. Previous trials have demonstrated rates of HSR to pegylated E. coli asparaginase (PEG) anywhere from 0.5% to 25%. At our institution, despite premedication with antihistamine medications such as diphenhydramine and famotidine, we have observed a similar range of patients develop treatment-limiting HSR to PEG. In addition, nonallergic infusion reactions (IR) often overlap symptomatically with HSR, making it difficult to identify true HSR, thus leading to the conservative clinical decision to remove asparaginase from the treatment plan. There are reports of adding hydrocortisone to the premedication regimen for patients receiving PEG, but this has been reported mainly in the rechallenge setting.

Methods: We conducted a retrospective analysis evaluating the benefits of adding hydrocortisone to a universal 2-drug premedication regimen of famotidine and diphenhydramine. Data were gathered via chart audit comparing a group of patients with a 2-drug regimen (diphenhydramine and famotidine) to a group of patients with a 3-drug regimen of diphenhydramine, famotidine, and hydrocortisone. Analysis included patients with any lymphoid malignancy treated with a frontline PEG-containing treatment regimen. A 1-year time interval was used to collect data for the preintervention and postintervention groups. All patients who received IV PEG were reviewed. HSRs or infusion reactions were reviewed independently to confirm and grade using Common Terminology Criteria for Adverse Events (CTCAE), v5 of allergic reactions.

Results: In 85 patients analyzed over a 2-year period, 50 were in group 1 and given a 2-drug regimen of diphenhydramine and famotidine before PEG infusion. The rate of HSR in group 1 was 38% with 12% experiencing IRs. Group 2 contained 35 patients who received a 3-drug regimen with diphenhydramine, famotidine, and hydrocortisone. The rate of HSR in group 2 was 11% with another 11% experiencing IRs. Based on this data, rates of IR remained unchanged, while rates of HSR decreased significantly by more than 25% ( P =0.007) with the addition of hydrocortisone to the premedication regimen.

Conclusions: Our retrospective cohort study provided preliminary evidence that the addition of hydrocortisone to a 2-drug premedication regimen of diphenhydramine and famotidine can decrease the rates of hypersensitivity reactions to IV PEG.