Percutaneous Trans-Thoracic Procedures in Children With Tumors of Thoracic Wall, Mediastinum and Lung. The Experience of a Single Institution

Background While percutaneous trans-thoracic procedures (PTTP) are commonly performed in adults with tumors of thoracic wall, mediastinum and lung, the experience is limited in children, in whom however less invasive methods should be the choice for the diagnosis or the identification of small pulmonary nodules that need to be removed, sparing lung tissue. The results of the PTTP performed by the interventional radiologists in our Pediatric Surgery Department are analyzed. Methods CT-guided biopsies, utilizing a 64-slice CTscanner, with low-radiation dose, were performed applying the coaxial technique with 16-18G needles with a single tissue path. For localization of lung nodules before surgery, two 20G-hook wires were positioned beyond the nodule. CT images after each manipulation of the needles were obtained. US-guided biopsies were performed either with or without coaxial technique through a needle bracket. Younger patients required sedation. All patients underwent a chest radiogram two hours after the procedure and remained under observation for 24 hours. Results From January 2015 to March 2019, 23 procedures were performed in 22 patients (Age:16M- 19Y): 6 patients underwent CT-guided biopsy (4 lung nodules, 2 mediastinal mass); 3 underwent 4 CT-guided hook-wire localization of pulmonary nodules, just before surgery; 13 underwent US-guided biopsy (posterior mediastinum 2; anterior mediastinum 5, thoracic/intrathoracic mass 5). Adequate core biopsies were obtained in all patients, except three, who underwent thoracoscopy/thoracotomy. The hook-wires were successfully positioned in all cases, as confirmed by histology. After the procedure, two patients presented perilesional hemorrhage and one pneumothorax, but they did not required treatment. Conclusion PTTP were successful in most patients, without significant complications. These techniques should be encouraged to avoid diagnostic aggressive surgical approaches in children with cancer. For all cases a multidisciplinary team is essential to discuss the indications and planning the procedures

Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype\u2013genotype correlation has been attempted and variable expressivity of biallelic SMARCAL1 variants may be associated with environmental and genetic disturbances of gene expression. We describe two siblings born from consanguineous parents with a diagnosis of SIOD revealed by whole exome sequencing (WES). Results: A homozygous missense variant in the SMARCAL1 gene (c.1682G>A; p.Arg561His) was identified in both patients. Despite carrying the same variant, the two patients showed substantial renal and immunological phenotypic differences. We describe features not previously associated with SIOD\u2014both patients had congenital anomalies of the kidneys and of the urinary tract and one of them succumbed to a classical type congenital mesoblastic nephroma. We performed an extensive characterization of the immunophenotype showing combined immunodeficiency characterized by a profound lymphopenia, lack of thymic output, defective IL-7R\u3b1 expression, and disturbed B plasma cells differentiation and immunoglobulin production in addition to an altered NK-cell phenotype and function. Conclusions: Overall, our results contribute to extending the phenotypic spectrum of features associated with SMARCAL1 mutations and to better characterizing the underlying immunologic disorder with critical implications for therapeutic and management strategies

Rhabdomyosarcoma with unknown primary tumor site: A report from European pediatric Soft tissue sarcoma Study Group (EpSSG)

Background: Rhabdomyosarcoma (RMS) is an aggressive malignancy, and 20% of children present with metastases at diagnosis. Patients presenting with disseminated disease very occasionally have no clear evidence of a primary tumor mass. As these patients have rarely been investigated, we report on a series of patients with RMS and unknown primary tumor site registered in the Metastatic (MTS) RMS 2008 protocol (October 2008 to December 2016) coordinated by the European pediatric Soft tissue sarcoma Study Group. Methods: Patients were administered nine cycles of induction chemotherapy, and 48 weeks of maintenance chemotherapy. Surgery and/or radiotherapy were planned after the first assessment of tumor response, and implemented after six cycles of chemotherapy. If feasible, radiotherapy to all sites of metastasis was recommended. Results: We identified 10 patients with RMS and unknown primary site, most of them adolescents (median age 15.8 years, range: 4.6–20.4). Nine had fusion-positive alveolar RMS. Multiple organ involvement was identified in seven patients, two only had bone marrow disease, and one only had leptomeningeal dissemination. All patients were given chemotherapy, four were irradiated, and none had surgery. Three patients underwent allogeneic bone marrow transplantation. At the time of this analysis, only two patients are alive in complete remission: one had received radiotherapy; and one had a bone marrow transplant. Conclusions: RMS with unknown primary tumor occurs mainly in adolescents and is typically fusion-positive alveolar. Radiotherapy may be important, but survival is poor and patients should be offered enrollment in investigational trials

Abdominal masses in the pediatric age: How can a malignancy be excluded?

Il reperto di una massa addominale rappresenta il più comune segno di presentazione di neoplasia solida in età pediatrica; anche se il 45% dei casi riguarda una problematica non maligna come anomalie congenite, tumori, trauma, infezione/ ascesso o ingrossamento d’organo, è importante orientarsi per avviare un corretto iter diagnostico volto a identificare o a escludere tempestivamente un’eventuale neoplasia maligna. Le cause di massa addominale del bambino sono molteplici, è quindi importante identificarne la natura e individuarne la localizzazione mediante un buon esame obiettivo e un’anamnesi esaustiva volta alla ricerca di eventuale sintomatologia associata (Figure 1 e 2). Per esempio la presenza di difficoltà alla defecazione o alla minzione deve far pensare a una massa che ostacola fisicamente il tratto gastrointestinale o genitourinario rispettivamente, mentre la presenza di sintomi sistemici come febbre e/o perdita di peso orienta verso una condizione maligna. Le due neoplasie maligne che più frequentemente si manifestano con massa addominale in età pediatrica sono il neuroblastoma e il tumore di Wilms

Bilateral Pulmonary Metastases in Pediatric Oncology: Single-Stage or Two-Stages Operation?

Background and Aims: Nowadays, the optimal surgical approach for resection of pulmonary metastases in paediatric oncology is still debated. This study aims to compare the advantages of single-stage (SSO) vs two-stages operations (TSO) in case of bilateral pulmonary metastases at the time of surgery. Methods: Patient’s primary tumour, surgical approach, length of surgery, beginning of postoperative chemotherapy and long-term outcomes were evaluated, comparing those who underwent SSO with those who underwent TSO. Results: Between 1/2007 and 12/2018, 10 patients (median age 16 years), underwent 20 surgical procedures for bilateral pulmonary metastases: 6 SSO, 14 TSO. Primary tumours were: osteosarcoma (5), hepatoblastoma (3), germ cell tumours (2). SSO: 4 bilateral thoracotomies (TT), 1 right thoracoscopy (TS) and left TT, 1 bilateral TS (1 side converted). TSO: 9 TT, 3 TS (1 converted) performed at 19±5days from the first procedure. Considering the number of single SSO and the sum of the TSO, the surgical time was lower for SO (300 vs 350 min) but the length of stay was similar (22 vs 20 days; p=ns). The time between surgery and the post-surgical medical therapy was 15 days for SSO and 39 for TSO (p<0,02). Long-term disease-free interval was similar between the two groups, while survival was lower inTSO(54% vs 68%). Conclusions: Bilateral metastasectomy is a standard procedure, both in SSO and TSO. Despite being more aggressive, especially in small children, SSO allows similar recovery and an earlier beginning of postoperative chemotherapy and may be related to a better long-term survival

Administration of Samital® in children with oral mucositis: a feasibility study

OBJECTIVE: SAMITAL®, a botanical drug containing three highly standardized extracts (Vaccinium myrtillus, Macleaya cordata and Echinacea angustifolia), has shown promising results in treating or preventing oral mucositis (OM) in adult patients, but it has not been fully investigated in children. In this study, we assessed the feasibility of SAMITAL administration in pediatric patients receiving anticancer treatment to prevent or treat OM, focusing on identifying an appropriate dose and evaluating safety and tolerability and palatability and treatment compliance. PATIENTS AND METHODS: We conducted an open-label, monocentric, prospective study on 18 children receiving anticancer therapy to prevent or treat OM. RESULTS: No SAMITAL®-related side effects were observed or reported during the study; moreover, no systemic absorption of SAMITAL® metabolites was detected in the bloodstream. However, compliance to SAMITAL® was unsatisfactory and variable (from 2 to 100%), and patients reported low palatability (median taste of 4.8; range 1.0-8.0). CONCLUSIONS: SAMITAL® administration appears to be safe in the pediatric population, as it is not absorbed in the bloodstream and does not cause any local or systemic side effects. However, the current formulation is only partially suitable for children, and future studies on SAMITAL® in children would need an adapted formulation to increase compliance

Abdominal masses in the pediatric age: How can a malignancy be excluded?

Il reperto di una massa addominale rappresenta il più comune segno di presentazione di neoplasia solida in età pediatrica; anche se il 45% dei casi riguarda una problematica non maligna come anomalie congenite, tumori, trauma, infezione/ ascesso o ingrossamento d’organo, è importante orientarsi per avviare un corretto iter diagnostico volto a identificare o a escludere tempestivamente un’eventuale neoplasia maligna. Le cause di massa addominale del bambino sono molteplici, è quindi importante identificarne la natura e individuarne la localizzazione mediante un buon esame obiettivo e un’anamnesi esaustiva volta alla ricerca di eventuale sintomatologia associata (Figure 1 e 2). Per esempio la presenza di difficoltà alla defecazione o alla minzione deve far pensare a una massa che ostacola fisicamente il tratto gastrointestinale o genitourinario rispettivamente, mentre la presenza di sintomi sistemici come febbre e/o perdita di peso orienta verso una condizione maligna. Le due neoplasie maligne che più frequentemente si manifestano con massa addominale in età pediatrica sono il neuroblastoma e il tumore di Wilms