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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 36 months (range 4–96 months) 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. [ABSTRACT FROM AUTHOR]

Background Diagnosis and proper management of atypical Spitz tumors in pediatric age are still controversial. Objective We sought to investigate the clinicopathological and molecular features of atypical Spitz tumors in patients aged 18 years or younger. Methods We performed a retrospective clinicopathological and fluorescence in situ hybridization study on 50 pediatric atypical Spitz tumors. Results Parameters that were significantly correlated with a diagnosis of atypical Spitz tumors over Spitz nevus included asymmetry, level IV/V, lack of maturation, solid growth, nuclear pleomorphism, high nuclear-cytoplasmic ratio, atypical and deep mitoses, and more than 6 mitoses/mm 2 . In the atypical Spitz tumors group, a significantly higher mitotic rate was observed in prepuberal age ( P = .04). The 4-probe fluorescence in situ hybridization melanoma assay did not discriminate atypical Spitz tumors from Spitz nevi. Heterozygous 9p21 loss was found in 3 of 37 cases and homozygous 9p21 loss in 2 of 37 cases. Only 1 child experienced a fatal outcome, showing genetic abnormalities by melanoma fluorescence in situ hybridization probe and a heterozygous 9p21 deletion. Limitations The limited number of adverse outcomes did not allow the prognostic analysis of single morphologic features. Conclusion Pediatric atypical Spitz tumors are associated with minimal lethal potential. Atypical Spitz tumors require complete excision and careful follow-up while our data do not support any clinical benefit for the sentinel lymph node biopsy procedure and completion lymphadenectomy. [ABSTRACT FROM AUTHOR]

Diffuse lipomatosis is a very rare condition, the nature of which, neoplastic or hamartomatous, has not yet been defined. We report the case of a small child with a right thoracic lesion of neonatal onset and extremely rapid growth, who successfully underwent complete surgical resection. The differential diagnoses and proper surgical treatment are discussed. [ABSTRACT FROM AUTHOR]

Abstract: Plexiform (multinodular) cellular schwannomas are rare tumors, not associated with neurofibromatosis type 1, that occur more often in children and can be congenital. Their biology is benign and is characterized by the tendency to recur locally without being metastatic. Cytogenetic studies in adult cases of schwannoma indicate a complete or partial loss of chromosome 22 as the most common abnormality. Only two cytogenetic studies describe cases in children, one of which concerned a congenital cellular plexiform schwannoma. Here, we report the cytogenetic analysis of a second case in an 8-month-old boy with recurrence of trisomy 17. [ABSTRACT FROM AUTHOR]

Selective tumor targeting is expected to enhance drug delivery and to decrease toxicity, resulting in an improved therapeutic index. We have recently identified the HSYWLRS peptide sequence as a specific ligand for aggressive neuroblastoma, a childhood tumor mostly refractory to current therapies. Here we validated the specific binding of HSYWLRS to neuroblastoma cell suspensions obtained either from cell lines, animal models, or Schwannian-stroma poor, stage IV neuroblastoma patients. Binding of the biotinylated peptide and of HSYWLRS-functionalized fluorescent quantum dots or liposomal nanoparticles was dose-dependent and inhibited by an excess of free peptide. In animal models obtained by the orthotopic implant of either MYCN-amplified or MYCN single copy human neuroblastoma cell lines, treatment with HSYWLRS-targeted, doxorubicin-loaded Stealth Liposomes increased tumor vascular permeability and perfusion, enhancing tumor penetration of the drug. This formulation proved to exert a potent antitumor efficacy, as evaluated by bioluminescence imaging and micro-PET, leading to (i) delay of tumor growth paralleled by decreased tumor glucose consumption, and (ii) abrogation of metastatic spreading, accompanied by absence of systemic toxicity and significant increase in the animal life span. Our findings are functional to the design of targeted nanocarriers with potentiated therapeutic efficacy towards the clinical translation. [ABSTRACT FROM AUTHOR]

Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system and malignant rhabdoid tumor of the kidney (MRTK) may present with different responses to chemotherapy and outcomes. We describe the case of an infant with multifocal rhabdoid tumor with different behavior and response to treatment, depending on the anatomic site. [ABSTRACT FROM AUTHOR]

Abstract: Aim: Presenting features, treatment and outcome of 134 newborns with neuroblastoma diagnosed over a 27-year period are described. Methods: Analyses were performed on the entire cohort and on patients distributed over three periods of diagnosis. Results: Twenty-seven tumours (20.1%) were detected prenatally. Localised disease prevailed (65.7%) with an increase of stage 1 patients over time from 18.8% to 46.5%. Disseminated disease accounted for 34.3% of tumours with only one stage 4 and 45 stage 4S. Five-year overall survival (OS) of the entire cohort was 88.3%. Five/88 patients with localised disease died, including three who died of complications (OS, 95.3%). The only stage 4 patient survived. Eleven/45 stage 4S patients died, including 7/18 symptomatic and 4/27 asymptomatic (OS, 74.1%). Conclusion: The outcome of neuroblastoma in newborns is excellent. In localised tumours, surgery-related deaths outnumbered deaths due to disease. Symptomatic stage 4S patients were at greater risk of dying. [Copyright &y& Elsevier]

Abstract: DDX1, a gene mapping to the 2p24 region, has been observed to be co-amplified with MYCN in neuroblastoma. Co-amplification of the DDX1 gene is a consequence of the short physical distance between the two genes. Recently, it has been found that neuroblastoma cells can show a low increase in MYCN gene copy number, defined as MYCN gain. We studied 13 neuroblastomas with MYCN gain to evaluate the status of the DDX1 gene. We investigated DDX1/MYCN gain by double-colour FISH on interphase nuclei. All cases showed concomitant low extra copy number of DDX1 and MYCN. Heterogeneous distribution of nuclei displaying DDX1/MYCN gain was observed in almost all tumours, suggesting a clonal evolution of cells with DDX1/MYCN gain. This is the first report that shows DDX1 co-gained with MYCN in neuroblastoma and indicates that DDX1 over-representation is closely associated with an increase in MYCN copy number in neuroblastoma cells. Since DDX1 has already been found co-amplified with MYCN, DDX1 gain seems to be a further rearrangement due to the physical proximity of the two genes. Moreover, all patients with DDX1/MYCN gain show a good overall survival but a high frequency of adverse events. [Copyright &y& Elsevier]