The diagnosis of balanitis xerotica obliterans (BXO) in children may be challenging, since clinical examination only could lead to an underestimation of its incidence. The aim of this retrospective ...and single-centre study is to assess the diagnostic performance of clinical examination, together with clinical history, in identifying BXO. Ninety-seven children underwent circumcision for phimosis from 2015 to 2019. Histology was routinely performed. Cohen’s kappa coefficient, sensitivity, specificity, predictive values, likelihood ratios and accuracy of macroscopic appearance of the foreskin, steroid administration and past medical history were estimated. Forty-eight patients (50%) were affected by BXO; 31 of them (69%) presented with suggestive clinical signs. A strictured or whitish urethral meatus was detected during surgery in nine cases (19%); this was associated to allergic or immune diseases (
p
= 0.046). Foreskin appearance alone mildly correlated with histology (
k
= 0.494;
p
< 0.001) and it showed a diagnostic accuracy of 75%. The specificity and positive predictive value of abnormal macroscopic findings at examination, together with a positive clinical history for other allergic or immune diseases, and/or for balanitis, were 100% and the positive likelihood ratio was greater than 10. Conversely, sensitivity decreased to 4.5% (95% CI 0–11%).
Conclusion
: Foreskin appearance together with clinical history could predict BXO with certainty. However, since the absence of a positive medical history could not exclude the diagnosis, foreskin histology is still highly recommended.
What is Known:
• Occurrence of balanitis xerotica obliterans may be underestimated in children and it could lead to long-term complications.
• The diagnostic accuracy of clinical examination is controversial.
What is New:
• Clinical signs together with patients’ medical history present high specificity and positive predictive values but low sensitivity.
• When suggestive clinical aspects are present, patient should be referred to surgery avoiding prolonged conservative treatment; and preputial histology is highly recommended.
Background
Invasive fungal disease (IFD) is typically aggressive and related with high mortality in children with a hematological malignancy. The association of medical and surgical treatment may ...ameliorate the outcome. The aim of this study was to analyze the surgical treatment of fungal infections in pediatric oncological populations.
Methods
Retrospective study (2000–2022) of a single‐center experience. We reviewed the medical record of all patients with hematologic malignancies and IFD, analyzing the outcome.
Results
From the 70 pediatric cases of hematologic malignancies with the diagnosis IFD over 22 years, we included in the present study 44 cases who required surgical approaches for either diagnosis or treatment. Twenty‐one patients were males and the mean age was 11 (range 1–23) years. The main indications for surgery were lack of improvement following medical treatment and/or progression of fungal infection (80%) and diagnosis confirmation (20%). Only five patients needed an emergency operation for rapid worsening of symptoms. The most common site of infection was the lung (80%) and the most frequently identified pathogen was Aspergillus (75%). The most common surgical procedures were lobectomy (performed in 17 patients) and atypical lung resection (10). Complications of surgery were mostly treated by medical approach. The mean time of resumption of oncological treatment was 40 (range 0–150) days.
Conclusions
Surgery is an important step in the multimodal treatment of invasive fungal infection with excellent resolution rate. Overall mortality depends on the underlying malignancy.
The MicroWave Ablation (MWA) is a mini-invasive technique, based on dielectric heating, used to treat small hepatic tumors or liver metastases in the adult population. The heat-energy is delivered to ...the target area, causing tumor necrosis, usually under ultrasound or computed tomography guidance. This procedure can be performed as pure percutaneous or with laparoscopic assistance.
A laparoscopic US-guided microwave ablation of the pancreatoblastoma hepatic metastasis was performed in an 11-year old girl. A standard three-port laparoscopic technique was used: the camera port at the umbilicus, and two working port at the upper right quadrant. After adhesiolysis, the intra-operative liver ultrasonography confirmed the pre-operative morphological imaging study and the nodules ablation was performed by using microwaves (MWA), emitted by AMICA probe (Apparatus for MICrowave Ablation; HS Hospital Service, Aprilia, LT, Italy), set at 40 W.
Laparoscopic MWA is a tissue-sparing technique to treat in a mini-invasive fashion unresectable liver tumors or metastases. This technique has been extensively described in adult population, and rarely in children. These preliminary and satisfactory results make MWA promising when treating pediatric patients with malignant primary or secondary liver tumors. Further studies may provide data on its long-term efficacy and safety.
Disorders of sex development represent a large and heterogeneous group of diseases that have an important impact on physical and mental well-being of patients and their families. An early diagnosis ...and a multidisciplinary approach are fundamental to guarantee the highest standard of care.
Focus on melanotic neuroectodermal tumor of infancy Krawczyk, Malgorzata A.; Styczewska, Malgorzata; Fernandez, Carla ...
EJC paediatric oncology,
June 2024, 2024-06-00, 2024-06-01, Letnik:
3
Journal Article
Recenzirano
Odprti dostop
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).
•Melanotic neuroectodermal tumor of infancy (MNTI) affects mainly craniofacial bones.•MNTI has a predilection for local recurrence. Metastatic dissemination is very rare.•The mainstay of the treatment of MNTI is surgical resection.•Chemotherapy should be considered in inoperable, recurrent or metastatic MNTI.•Long-term prognosis in MNTI is good but affected by the late treatment sequelae.
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.
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.
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.
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).
•Very rare tumors (VRTs) in childhood and adolescence are orphan diseases.•Pediatric oncologists have limited experience in managing VRTs.•An international virtual consultation system (VCS) has been established for VRTs.•160 VCS consultations for VRTs illustrate the ability to promote quality of care.
Gastrostomy placement is crucial in neurologically impaired (NI) children to ensure an adequate food intake and a safe route for drugs administration and to reduce the risk of primary aspiration. NI ...patents are more prone to gastroesophageal reflux. The association with fundoplication is deemed to reduce reflux-related respiratory complications. However, long-term benefits of this approach are not clear. We therefore aimed to compare long-term reflux-related respiratory complications of gastrostomy only (GO) to gastrostomy with fundoplication (GF). We retrospectively reviewed 145 consecutive NI children managed from 2008 to 2018. As long-term outcomes, we analyzed number and length of hospital admissions (Reflux-Related-Hospitalization, RRH) and emergency department accesses (Reflux-Related-Accesses, RRA) due to respiratory problems. Results were analyzed with appropriate statistical method. Median age at referral and at gastrostomy placement were 2.2 and 3.4 years (SD 5.6), respectively. Median follow-up was four years (range 1-12). Anti-reflux procedures were performed in 26/145 patients (18%); tracheotomy in 23/145 (16%). RRH following surgery showed lower number of admissions/year (0.32 vs. 1 for GO vs. GF,
< 0.005) and days hospitalization/year (3 vs. 13,
= 0.08) in GO compared to GF; RRA was similar (0.60 vs. 0.65,
= 0.43). Gastrostomy placement alone appeared not to be inferior to gastrostomy plus fundoplication with respect to long-term respiratory-related outcomes for NI children in our center.
The genetic architecture of bone and soft tissue sarcomas susceptibility is yet to be elucidated. We aimed to comprehensively collect and meta-analyze the current knowledge on genetic susceptibility ...in these rare tumors.
We conducted a systematic review and meta-analysis of the evidence on the association between DNA variation and risk of developing sarcomas through searching PubMed, The Cochrane Library, Scopus and Web of Science databases. To evaluate result credibility, summary evidence was graded according to the Venice criteria and false positive report probability (FPRP) was calculated to further validate result noteworthiness. Integrative analysis of genetic and eQTL (expression quantitative trait locus) data was coupled with network and pathway analysis to explore the hypothesis that specific cell functions are involved in sarcoma predisposition.
We retrieved 90 eligible studies comprising 47,796 subjects (cases: 14,358, 30%) and investigating 1,126 polymorphisms involving 320 distinct genes. Meta-analysis identified 55 single nucleotide polymorphisms (SNPs) significantly associated with disease risk with a high (N=9), moderate (N=38) and low (N=8) level of evidence, findings being classified as noteworthy basically only when the level of evidence was high. The estimated joint population attributable risk for three independent SNPs (rs11599754 of
, rs231775 of
, and rs454006 of
) was 37.2%. We also identified 53 SNPs significantly associated with sarcoma risk based on single studies.Pathway analysis enabled us to propose that sarcoma predisposition might be linked especially to germline variation of genes whose products are involved in the function of the DNA repair machinery.
We built the first knowledgebase on the evidence linking DNA variation to sarcomas susceptibility, which can be used to generate mechanistic hypotheses and inform future studies in this field of oncology.
Very rare tumors (VRTs) in pediatric age represent many different diseases. They present an annual incidence < 2/1000,000 and correspond to about 11% of all cancers in patients aged 0–14 years. They ...can be roughly divided into two groups: one including tumors that are also rare in adults, and the other group includes adult-type tumors rarely encountered in children and adolescents. Although there is an obvious gap in knowledge regarding oncogenesis in pediatric cancers, there is some evidence of the involvement of various signalling pathways in the development of tumors in children and adolescents and sometimes in young adults. In addition, despite the rarity of these neoplasms, several attempts have been made to disclose the underlying mechanisms. More effort and resources have urgently to be devoted to deepening current knowledge and integrating new findings into the therapeutic approach, which nowadays relies on the treatment modalities used in adult oncology. The aim of this paper is to provide a review of the main solid VRTs occurring in both the pediatric and the adult age groups, highlighting the variability between groups in their biological and clinical course.
•Very rare tumors correspond to about 11% of all pediatric cancers.•Most pediatric VRTs are frequent in adulthood.•Biological features vary in the pediatric group.•Biological and clinical differences should lead to age-tailored treatment.
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