EJC paediatric oncology最新文献

Melanotic neuroectodermal tumor of infancy (MNTI) is a very rare benign neoplasm of probable neurocristic origin. It primarily affects children in the first year of life, with the median age at diagnosis of 4.5 months (range 0–804 months). It usually presents as a fast-growing, painless tumor developing within maxilla, skull bones or mandible but other locations are also possible, especially in older children. The cornerstone of treatment of MNTI is surgery, however local relapses after incomplete tumor excision are common, particularly in patients younger than 2 months of age. Rare cases of multiple recurrent, inoperable or metastatic MNTI pose therapeutic challenges. In such clinical scenarios, various regimens of neoadjuvant chemotherapy based on schemes for neuroblastoma or Ewing sarcoma have been used with partial regressions in some patients, enabling less mutilating delayed surgery. The use of radiotherapy is limited due to very young age of patients with MNTI. No targeted therapies have been found useful so far. Long-term prognosis of localized MNTI is favorable. However, extensive or recurrent lesions can result in functional or esthetic sequelae after surgical removal. Rare cases of malignant/metastatic tumors and MNTI diagnosed in older children have unfavorable outcomes. Further collaborative studies to establish standards of management in patients with MNTI are necessary to improve outcomes and diminish sequelae of surgery. This article presents a literature review on this very rare tumor entity, re-evaluated in the light of the experience gained in the national working groups joined together within the European Cooperative Study Group in Pediatric Rare Tumors (EXPeRT).

Interventional oncology (IO) has emerged as a pivotal field within interventional radiology (IR), gaining prominence in the past three decades. It has transcended its initial role in cancer care, expanding beyond biopsies and vascular access to offer a spectrum of percutaneous and transarterial procedures, transforming into a curative and palliative discipline. However, implementing IO in children presents distinctive challenges. While the technical aspects of IO procedures mirror those in adults, paediatric cases require specialised considerations. Radiologists must possess an in-depth understanding of the paediatric disease, tailor imaging modalities to the case, discern unique risks, and interpret disease markers specific to children. Notably, paediatric tumour biopsies demand significantly larger tissue samples for genetic sequencing, staging, and prognostication. Paediatric IO also confronts procedural disparities. Tumours in children may be larger relative to body size, necessitating precise radioembolisation dose calculations. The proximity of critical structures in small bodies amplifies the risk of collateral damage. When performing percutaneous ablation and endovascular therapies, these challenges must also be faced so that radiologists can navigate these complex clinical and technical considerations to ensure safe and effective interventions, all while prioritising the well-being of their young patients. This review summarises the current role and future opportunities for IO in paediatric cancer.

Background

Children and young adults needing surgery for a primary malignant bone tumour around the knee face a difficult, life changing decision. This study describes the level of shared decision making (SDM) experienced and preferred by these patients, parents and physicians in surgical consultations, and its relation to experienced decisional conflict and decisional regret.

Methods

Multicentre, cross-sectional cohort study. All patients who underwent surgery for a primary bone tumour around the knee in the Dutch designated orthopaedic oncological centres between 2012 and 2015, and their parents, were invited to complete the SDM-patient-Questionnaire (SDM-Q-9), Decisional Conflict Scale (DCS), Decisional Regret Scale (DRS) and Control Preferences Scale (CPS). Physicians completed the SDM- physician-Questionnaire (SDM-Q-Doc) and CPS.

Results

Twenty-four patients >16 years with twenty-two parents, and ten parents of patients between 5 and 16 years old, completed the questionnaires. Patients’ median SDM-Q-9 score was 60 (8.9–97.8), parents’ 77.8 (8.9–100) and physicians’ 82.2 (66.7–97.8). The SDM-Q-9 scores of patients (rs=−0.753, p < 0.01) and parents (rs=−0.850, p < 0.01) correlated with their DCS scores. DCS scores were correlated with decisional regret in patients (rs=0.701 p < 0.01) and parents (rs=0.405, p < 0.05). Fourteen patients (78%), twenty-eight parents (96%) and twenty-three physicians (92%) preferred a shared relationship in decision making on type of surgery.

Conclusions

Patients, parents and physicians agree on sharing responsibility choosing a surgical option. Patients and parents who reported more involvement in the decision-making process experienced less decisional conflict; less decisional conflict was associated with less decisional regret. These findings show the importance of SDM in these life changing surgeries.

Background

Chromosome 21 is affected in ∼60% of paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) patients and includes somatic and constitutional gains, intrachromosomal amplification of chromosome 21 (iAMP21), and the translocation t(12;21) resulting in the ETV6::RUNX1 gene fusion.

Methods

Since these numeric and structural chromosome 21 alterations are not targetable, we studied the type and frequency of yet-proven targetable events co-occurring with chromosome 21 alterations.

Results

Among 307 primary paediatric BCP-ALL cases, JAK/STAT pathway lesions were most frequent in patients with constitutional gain of chromosome 21 (Down syndrome ALL; 35/71, 49%) and iAMP21 (9/22, 41%). RAS pathway lesions were most frequent in high hyperdiploidy (62/108, 57%) and FLT3 lesions were most frequent in iAMP21 (7/22, 32%). Virtually all cases expressed CD19 and CD22 at the cell surface. Positivity for CD20 surface expression ranged from 67% in iAMP21 (8/12) to 20% in ETV6::RUNX1 (26/129).

Conclusion

Activated JAK/STAT, RAS or FLT3 signalling, and CD marker surface expression may provide targetable treatment options for the majority of chromosome 21-altered BCP-ALL cases.

Olfactory neuroblastoma (ON) is a rare tumor commonly presenting between 50 and 60 years of age. In pediatric age this tumor is even rarer, with an estimated incidence of 0.1 per 100,000 children up to 15 years. It arises from the olfactory neurorepithelium of the nasal cavity, and it can be locally aggressive, spreading to the orbital cavity, skull base, intracranial cavity. In rarer cases it can also give distant metastasis, more frequently to regional lymph nodes and less commonly to distant sites like liver, lungs and bones. Prognosis varies depending on the stage at presentation (including dural invasion, regional nodal involvement, and distant metastasis), the histological grade, and aspects related to the treatment, such as the possibility to achieve clear margins with surgery and the multimodal approach. Chemotherapy, surgery and radiotherapy have been used to treat these patients and the different approaches have been reported in the literature. Given the rarity of the disease no shared guidelines exist for the management of this entity in children, but some suggestions can be given to optimize the ON management.

This study presents the internationally recognized recommendations for the diagnosis and treatment of ON in children and adolescents, established by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) group within the EU-funded project Pediatric Rare Tumors Network - European Registry (PARTNER).

Background

Very rare tumors (VRTs) in children and adolescents are orphan diseases defined by an annual incidence of <2/1000,000. For a long time, VRTs have been outside of clinical and research groups in the field of pediatric oncology. As a result, exchange of experience and development of therapeutic standards have not been promoted. After the foundation of several national VRT working groups and the European Cooperative Study Group on Pediatric Rare Tumors (EXPeRT), a virtual consultation system (VCS) has been established, which specifically aimed at facilitating access to clinical consultation in complicated cases of VRTs.

Methods

The VCS has been open to physicians. After initial registration, they can present VRT patients free of charge. Patient consent and data pseudonymization were mandatory. Within the VCS, disease specific interdisciplinary panel discussions with at least three experts from the EXPeRT group and partners have been opened, and at the end of the discussion, a written summary and recommendation was provided.

Results

Between Mai 2017 and March 2023, 160 cases from 27 countries (20 European, 7 non-European) have been discussed in the VCS. The most common diagnoses were adrenocortical carcinoma, malignant skin tumors and malignant ovarian tumors. In a survey three months after panel discussion, more than 90% of requesting physicians evaluated the VCS to be easy to use, helpful and to have a significant impact on patient management.

Conclusion

A VCS may provide significant assistance in the management of children and adolescents with VRTs. Furthermore, it may help to overcome inequalities in access to adequate treatment in countries with lower health care system resources or without established VRT study groups. Therefore, EXPeRT will continue to support the VCS. For this purpose, the VRT panels have been integrated into the Clinical Patient Management System (CPMS) within the European Reference Network Initiative (ERN PAedCan).