Giovanna Riccipetitoni

Features and outcome of neuroblastoma detected before birth

BACKGROUND/PURPOSE The growing use of routine ultrasonography during pregnancy is leading to an increasing number of prenatally diagnosed neuroblastomas. Optimal strategy has not yet been defined for these patients, because knowledge on this particular neuroblastoma (NB) population is still limited. However, definite guidelines are needed to avoid inadequate treatment. The authors analyzed the cases of antenatally detected NB (ADNB) reported in the Italian Neuroblastoma Registry during the past 6 years to elucidate the features of this subset of NB. METHODS The Italian Neuroblastoma Registry was reviewed for the period January 1993 to December 1998 to collect clinical, radiographic, surgical, and histopathological data on ADNB cases. NB stage was evaluated according to INSS criteria. All patients had undergone imaging (computed tomography or magnetic resonance imaging) of the primary tumor and bone marrow biopsy before surgical resection. RESULTS Seventeen patients were identified. Primary tumour site was adrenal glands in 16 cases and retroperitoneal ganglia in 1. Stage distribution was stage I, 13 cases; stage II-A, 1 case; stage II-B, 1 case; stage IV-S, 2 cases. All cases underwent primary tumour resection. Mean age at surgery was 4 weeks. Resection of primary tumor was radical in 16 cases, partial in 1. All tumors were characterised by favourable histology according to Shimada classification. N-myc gene amplification was studied in 14 patients. N-myc amplification was detected only in a newborn with stage II-A NB, who died of massive bleeding 2 days after tumor resection. DNA index and 1p deletion were studied in 11 and 8 patients, respectively. Both diploidy and deletion of 1p were observed in a newborn who subsequently died of disease progression despite surgery, chemotherapy, and radiation therapy. Fourteen of 17 patients currently are alive and free of disease, and one with IV-S NB and short follow-up is alive with disease. CONCLUSIONS Our data give evidence that in most cases infants with ADNB represent a subset of patients with excellent outcome. Aggressive treatment may not always be necessary. Infants with ADNB with unfavorable features should undergo early surgical excision, whereas patients with favourable features could be observed awaiting spontaneous regression of the mass, reserving delayed surgery for tumors that increase in size or do not regress.

Mature and immature teratoma: A report from the second Italian pediatric study.

Teratomas demonstrate a benign clinical behavior, however they may recur with malignant components or as teratoma, and in a small group of patients prognosis could be fatal. After the first Italian study, we collected cases of teratoma, alongside the protocol for malignant germ cell tumors.

Thoracoscopic surgery in the management of pediatric malignancies: a multicentric survey of the Italian Society of Videosurgery in Infancy

BackgroundFew reports have elucidated the role of minimally invasive surgery (MIS) for pediatric malignancies. This study aimed to review the results of a multicenter study on the management of thoracic tumors in children using MIS.MethodsA 5-year retrospective review of all MIS procedures for the treatment of pediatric malignancies performed in seven centers belonging to the Italian Society of Videosurgey in Infancy is reported. The data from 145 pediatric oncologic patients (80 girls and 65 boys) ages 30 days to 17 years (median, 7.2 years) were analyzed. Of the procedures performed, 87 were laparoscopies (60%), 55 were thoracoscopies (38%), and 3 were lumboscopies (2%). This study focused only on the results of the 55 thoracoscopic procedures performed for diagnostic purposes in 19 cases (34.6%) and for therapeutic purposes in 36 cases (65.4%).ResultsThe duration of surgery was 15 to 180 min (median, 65 min). Metastasectomies were performed for various etiologies in 31 of the 55 cases. Of the 55 patients, 5 underwent resection of a mediastinal tumor, and 19 underwent a diagnostic thoracoscopy. During a mean follow-up period of 25.6 months, 2 (3.6%) of the 55 patients experienced perioperative complications.ConclusionsThe role of MIS in tumor resection for children is currently limited, but may be used in individual cases when the preoperative workup shows it to be feasible. Its indication is strictly dependent on the thoracoscopic experience of the surgeon and the tumor site for preoperative imaging techniques. When the indication for thoracoscopy is correct, this approach has high therapeutic applicability (65.4% in our series). Our preliminary experience shows that careful patient selection and an appropriate level of technical skill make thoracoscopy a reasonable and safe option for the treatment of pediatric malignancies.

Long term follow-up and transition of care in anorectal malformations: An international survey

BACKGROUND The aim of the study was to assess current international practice in the long term follow-up, in managing active problems and transition of care for teenagers born with anorectal malformations (ARM). METHODS An original survey was administered to delegates attending two large colorectal surgical meetings in 2015. The 21 questions covered long term follow-up, specific issues for teenagers and transition of care. RESULTS 96/236 delegates completed the survey. Follow-up was routinely suspended before 10 year of age by 33% of respondents. 90% of them did not use a scoring system to assess or risks stratify patients, despite 81% stating that an objective score would be beneficial. 40% of respondents felt that >30% of their teenagers had ongoing active medical or psychosocial issues. 42% thought their patients were not ready to be transitioned. The process of transition should start around 13-16 years according to 54% of respondents. 72% had no protocol for transition and 82% did not hold multidisciplinary meetings with adult practitioners before transition. CONCLUSIONS International consensus on the following aspects of the care in ARM is needed: structured long term follow-up, objective assessment and risk stratification scores, pathways of transition and methods to prepare patients, parents and adult practitioners.

Pulmonary Malformations: Predictors of Neonatal Respiratory Distress and Early Surgery

Objectives: The objective of our study is to retrospectively analyze a single-centre series of antenatally detected pulmonary malformations (PM) and to evaluate their postnatal outcome. Materials and Methods: We retrospectively reviewed all prenatally diagnosed PM patients referred to our Centre in the period between January 1999 and December 2014. All cases were diagnosed by one of our Maternal-Fetal Specialists by US examination. Congenital pulmonary airway malformation (CPAM) volume ratio (CVR), development of fetal complications, need for fetal therapy, need for neonatal resuscitation and timing of surgery were analyzed. Results: A total of 70 fetuses were diagnosed with a PM in the period of study. An initial CVR higher than 1.6 was found in 16/70 patients (22.8%); 14/16 developed fetal complications (p less than .0001). Fifty-six fetuses (80%) did not develop any complications during pregnancy. To all complicated cases a prenatal treatment was offered, carried out in 12 (1 termination, 1 refusal). Survival rate was 100%. Sixty-three fetuses (90%) were asymptomatic at birth and did not require any neonatal resuscitation. Six patients submitted to fetal therapy and one untreated presented with neonatal respiratory distress, required mechanical ventilation at birth and early surgery in the neonatal period (7/70, 10%). Conclusion: CVR > 1.6 and the presence of fetal complications can be considered as predictors of respiratory distress at birth and of the need for early surgery. Nevertheless, the vast majority of PM are asymptomatic at birth and only a small group of fetuses require prenatal and postnatal treatment and support.

Female fertility preserving practices at a pediatric unit: a challenge of multiprofessional and multidisciplinary cooperation.

Introduction Being able to have children could have an important positive effect on the future lives of pediatric cancer survivors. Working at a cancer institute makes us responsible for filling the gaps in our knowledge in this area of patient care. Methods We describe our activities in a series of young females diagnosed with cancer and evaluated for fertility preservation options. We discuss the developed skills and organization as well as the practical difficulties encountered in managing fertility preservation. Results Since September 2012, laparoscopy and cryopreservation of cortical ovarian tissue has been performed in 16 girls (with ovary transposition in 3, and after several cycles of chemotherapy in 5) and egg banking in 4 young women (before chemotherapy in 2 and several years after treatment in 2). Conclusions Recommendations on fertility preservation indicate that discussing the problems early on is crucial to future success. It is unthinkable to simply provide information and offer the opportunity to choose a fertility preserving technique without helping and accompanying patients and their families in their decisions and choices on the matter.

Comparative retrospective study on the modalities of biopsying peripheral neuroblastic tumors: a report from the Italian Pediatric Surgical Oncology Group (GICOP)

Peripheral neuroblastic tumors are the most common extracranial solid neoplasms in children. Early and adequate tissue sampling may speed up the diagnostic process and ensure a prompt start of optimal treatment whenever needed. Different biopsy techniques have been described. The purpose of this multi‐center study is to evaluate the accuracy and safety of the various examined techniques and to determine whether a preferential procedure exists.

Perioperative management of hypertensive neuroblastoma: A study from the Italian Group of Pediatric Surgical Oncologists (GICOP)

BACKGROUND Hypertension (HT) is rarely reported in patients affected by Neuroblastoma (NB), and management guidelines are lacking. Clinical features and perioperative medical treatment in such patients were reviewed to 1) ascertain whether a shared treatment strategy exists among centers and 2) if possible, propose some recommendations for the perioperative management of HT in NB patients. METHODS A retrospective multicenter survey was conducted on patients affected by NB who presented HT symptoms. RESULTS From 2006 to 2014, 1126 children were registered in the Italian Registry of Neuroblastoma (RINB). Of these, 21 with HT (1.8%) were included in our analysis. Pre- and intraoperative HT management was somewhat dissimilar among the participating centers, apart from a certain consistency in the intraoperative use of the alpha-1 blocker urapidil. Six of the 21 patients (28%) needed persistent antihypertensive treatment at a median follow-up of 36months (range 4-96months) despite tumor removal. Involvement of the renal pedicle was the only risk factor constantly associated to HT persistency following surgery. A correlation between the presence of HT and the secretion of specific catecholamines and/or compression of the renal vascular pedicle could not be demonstrated. CONCLUSION Based on this retrospective review of NB patients with HT, no definite therapeutic protocol can be recommended owing to heterogeneity of adopted treatments in different centers. A proposal of perioperative HT management in NB patients is however presented. LEVEL OF EVIDENCE IV.

Atypical Leydig Cell Tumor in Children: Report of 2 Cases.

Leydig cell tumors (LCTs) are rare cord-stromal tumors that may occur in testis or ovaries and may produce androgens or estrogens. The majority has been found in men between the ages of 20 and 60 years. Adults with androgen-secreting LCTs are usually asymptomatic; feminizing syndromes may result from the production of estradiol or the peripheral aromatization of testosterone. In children, LCTs usually present between 5 and 10 years of age with isosexual precocious pseudopuberty or gynecomastia. We report 2 cases of LCT in prepubertal boys presenting with advanced unilateral pubarche and testicular volume asymmetry. Both subjects had normal penis size for age; no axillary hair or other signs of puberty were present. Height velocity was normal, and bone age was coincident with chronological age. Androgen levels were normal, as well as estrogen, corticotropin, and cortisol concentration. Testicular ultrasound demonstrated a testicular mass. Histology examination revealed a well-differentiated LCT. This is the first report of 2 pediatric patients with LCT presenting with advanced pubarche in absence of systemic hyperandrogenism. We hypothesize that the neoplastic cells may locally produce high levels of androgens or androgen-like bioactivity molecules that are responsible for the clinical manifestation. We suggest that a testicular ultrasound should be obtained in all children presenting with unilateral pubarche, with or without hyperandrogenism.

Analysis of Hand Size and Ergonomics of Instruments in Pediatric Minimally Invasive Surgery.

Moving from the study conducted in 2004 on adult surgeons we want to analyze the ergonomics applied in pediatric minimally invasive surgery. An online survey was conducted among the members of the European Paediatric Surgeons’ Association that included 14 questions pertaining to demographic, surgical glove size, double glove use, prior hand surgery, and the ease or difficulty in using different types of laparoscopic instruments. A total of 138 pediatric surgeons completed the survey. The difficulty score (DS) was similar between the 3.5- and 5-mm instruments. Other specialized instruments such as Ligasure, Ultracision, Clip applicators, endobags, and staplers were found to have higher DS. The needle holder was the only instrument that is part of the normal 5-mm operating sets, which was found to have a higher DS. Our survey found increased DS with the endobag and stapler, but this was not significant. Also prior hand surgery or double glove use was not associated with difficulty in usage of minimally invasive instruments when compared with normal hands in this survey.