Journal of Pediatric Hematology/Oncology最新文献

Surface expression of the disialoganglioside subtype GD2 has been observed on Ewing sarcoma (ES) cells, making it a suitable target for immunotherapy with the anti-GD2 antibody dinutuximab beta (DB). Here we report our experience of using DB in a cohort of 13 patients with GD2-positive, metastatic ES, in both the frontline (n=9) and relapsed/refractory (n=4) settings, when added to standard chemotherapeutic regimens. Outcomes were compared with 24 patients, primarily with localized ES, who were also treated at our center with standard therapy alone (without DB). Patients treated with DB had a median overall survival (OS) of 1877 days in the frontline setting and 810 days in the relapsed/refractory setting. Median time to progression was 1811 days and 782 days, respectively. In contrast, those treated with standard therapy alone in our center demonstrated a median OS of 1547 days and 210 days in the frontline and relapsed/refractory setting, respectively, with median times of progression of 1261 days and 113 days. DB treatment was well tolerated, with no new or unexpected adverse events reported. Anti-GD2 immunotherapy with DB represents a promising therapeutic option to improve outcomes in patients with metastatic ES, in both the frontline and relapsed/refractory settings.

Maxillofacial giant cell lesions (MGCLs) can lead to disfigurement and functional impairments. Management often involves a combination of operative and nonoperative strategies. This case series presents the first reported use of imatinib for multifocal MGCLs in a patient with Noonan syndrome, alongside 2 patients with cherubism.

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.

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.

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.

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.