Silvana Federici

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.

Resection of primary tumor at diagnosis in stage IV-S neuroblastoma: does it affect the clinical course?

PURPOSE To determine whether resection of primary tumor has a favorable influence on outcome of infants (age 0 to 11 months) with stage IV-S neuroblastoma. PATIENTS AND METHODS Between March 1976 and December 1993, 97 infants with previously untreated neuroblastoma diagnosed in 21 Italian institutions were classified as having stage IV-S disease. Seventy percent were younger than 4 months. Adrenal was the primary tumor site in 64 of 85 patients with a recognizable primary tumor. Liver was the organ most often infiltrated by the tumor (82 patients), followed by bone marrow and skin. RESULTS The overall survival (OS) rate at 5 years in 80% and event-free survival (EFS) rate 68%. In 24 infants, the effect of resection of primary tumor could not be evaluated because of rapidly fatal disease progression (n = 8), absence of a primary tumor (n = 12), or partial resection (n = 4). Of 73 assessable patients, 26 underwent primary tumor resection at diagnosis: one died of surgical complications, one relapsed locally and died, and two others relapsed (one of these two locally) and survived, for a 5-year OS rate of 92% and EFS rate of 84%. Of the remaining 47 patients who did not undergo primary tumor resection at diagnosis 11 suffered unfavorable events, of whom five died, for an OS rate of 89% and EFS rate of 75% (no significant difference from previous group). Disease recurred at the primary tumor site in only one five who died, and in only one of six survivors of progression or relapse; in these patients, the primary tumor, located in the mediastinum, was successfully resected. CONCLUSION Infants who underwent resection of the primary tumor at diagnosis had no better outcome than those in whom the decision was made not to operate.

Multicenter retrospective study on management and outcome of newborns affected by surgical necrotizing enterocolitis

BACKGROUND Necrotizing enterocolitis (NEC) is the most common surgical emergency in newborns and it is still a leading cause of death despite the improvements reached in the management of the critically ill neonate. The purpose of this study was to evaluate risk factors, surgical treatments and outcome of surgical NEC. METHODS We retrospectively evaluated a multicentric group of 184 patients with surgical NEC over a period of 5 years (2008-2012). Indications to operation were modified NEC Bell stages IIIA or IIIB. The main outcome was measured in terms of survival and postsurgical complications. RESULTS Data on 184 patients who had a surgical NEC were collected. The majority of patients (153) had a primary laparotomy (83%); 10 patients had peritoneal drainage insertion alone (5%) and 21 patients had peritoneal drainage followed by laparotomy (12%). Overall mortality was 28%. Patients with lower gestational age (P=0.001), lower birth weight (P=0.001), more extensive intestinal involvement (P=0.002) and cardiac diseases (P=0.012) had a significantly higher incidence of mortality. There was no statistically significant association between free abdominal air on the X-ray and mortality (P=0.407). Mortality in the drainage group was 60%, in the laparotomy group and drainage followed by laparotomy group was of 23-24% (P=0.043). There was a high incidence of stenosis (28%) in the drainage group (P=0.002). On multivariable regression, lower birth weight, feeding, bradycardia-desaturation and extent of bowel involvement were independent predictors of mortality. CONCLUSIONS Laparotomy was the most frequent method of treatment (83%). Primary laparotomy and drainage with laparotomy groups had similar mortalities (23-24%), while the drainage alone treatment cohort was associated with the highest mortality (60%) with statistical value (P=0.043). Consequently laparotomy is highly protective in terms of survival rate. Stenosis seemed to be statistically associated with drainage. These findings could discourage the use of peritoneal drainage versus a primary laparotomy whenever the clinical conditions of patients allow this procedure.

Successful combined treatment for giant mesenteric desmoid tumor: case report and review of the literature

Mesenteric aggressive fibromatosis, also known as abdominal desmoid tumor (DT), is a rare monoclonal neoplasm arising from muscoloaponeurotic structures, caused by a generalized defect in growth regulation of the connective tissue. Childhood abdominal DT is very rare (1), and the mesenteric localization is one of the rarest forms (approximately 5% of total cases). Despite its benign microscopic appearance and nonmetastasizing behavior, abdominal DT shows a high risk of recurrence (30%-80%) (2) and local aggressive growth. We report a case of a 7-year-old girl with a giant mesenteric fibromatosis, with multiple recurrence after surgical resections, successfully treated with low-dose of vinblastine (3-6 mg/m(2) per week) and methotrexate (20-30 mg/m(2) per week) for 24 months (every 7 days for 11 months and every 2 weeks for the last 13 months). After a follow-up of 47 months from the end of treatment, the child is in good health and in complete remission. Prolonged therapy with low-dose methotrexate and vinblastine appears to control abdominal DT and is associated with stable disease in patients with tumor unresponsive to surgery.

Rhabdomyosarcoma (RMS) of the Renal Pelvis in a Child: A Case Report

Rhabdomyosarcomas (RMS) of the kidney is extremely rare. We are reporting one case of embrional rhabdomyosarcoma localized in a child renal pelvis, focusing on the rarity of the site and role of imaging. An 8-years-old boy was admitted to the hospital with abdominal pain and hematuria. Ultrasonography revealed a right ureteropyelectasy including an echogenic image that extended from the renal pelvis towards inferior basin with no hypervascularization, simulating a clot. The urography-magnetic resonance imaging (Uro-MRI) showed two different components of the lesion: the first one simulating a clot; the second one detected in the papillary region and extended to the inferior calices having tumor-like features. A percutaneous ultrasound-guided renal biopsy revealed a botryoid embryonal rhabdomyosarcoma. The RMS is a complex childhood malignancy. This complexity is reflected in the radiological assessment that remains highly challenging and in the absense of treatment guidelines for unusual sites.