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Bilateral adrenal neuroblastoma (NB) is rare and is mainly stage 4S. Its incidence, presenting features, management, and outcome have not been fully defined yet. We searched the Italian NB Registry (RINB) for stage 4S NB infants with bilateral adrenal primary tumor to compare them with stage 4S NB with unilateral tumor. Between 1979 and 2016, the RINB enrolled 3731 NB patients aged 0-18 years including 317 infants (8.5%) diagnosed with stage 4S NB. Eleven/317 (3.5%) had a bilateral adrenal primary tumor (Group 1) and 190/317 (59.9%) had a unilateral tumor (Group 2). Group 1 infants were significantly younger (51 vs. 89 days) but were comparable with Group 2 for any other presenting features. In the absence of specific protocols, upfront treatment was based on symptoms, size of adrenal tumors, and biology, and consisted of observation in 5 cases, radiotherapy in one, chemotherapy in 2, and surgery in 3. Five/11 developed progression and 2 of them, both with MYCN amplification, died. The 5-year EFS rates of Group 1 and 2 were 54.5% vs. 73.3% (P=.14) and 5-year OSs were 81.8% and 89.4%, respectively (P=.44). Our data support the hypothesis that 4S NB infants with bilateral adrenal tumors can have favorable outcome with personalized therapeutic approach. The three patients with MYCN amplified tumor benefited from upfront aggressive chemotherapy, in accordance with current protocols. Because of the rarity of this intriguing form of neuroblastoma, collaborative prospective studies are warranted, especially in view of gaining a better insight on its biological and genetic features. [ABSTRACT FROM AUTHOR]

Purpose: To clarify the role of primary tumor resection in stage 4S neuroblastoma.Methods: We investigated a cohort of 172 infants diagnosed with stage 4S neuroblastoma between 1994 and 2013. Of 160 evaluable patients, 62 underwent upfront resection of the primary tumor and 98 did not.Results: Five-year progression-free and overall survival were significantly better in those who had undergone upfront surgery (83.6% vs 64.2% and 96.8% vs 85.7%, respectively). One post-operative death and four non-fatal complications occurred in the resection group. Three patients who had not undergone resection died of chemotherapy-related toxicity. Thirteen patients underwent late surgery to remove a residual tumor, without complications: all but one alive. Outcomes were better in patients diagnosed from 2000 onwards.Conclusion: Infants diagnosed with stage 4S neuroblastoma who underwent upfront tumor resection had a better outcome. However, this result cannot be definitely attributed to surgery, since these patients were selected on the basis of their favorable presenting features. Although the question of whether to operate or not at disease onset is still unsolved, this study confirms the importance of obtaining enough adequate tumor tissue to enable histological and biological studies to properly address treatment, to achieve the best possible outcome. [ABSTRACT FROM AUTHOR]

Background: Five to 10 % of children with neuroblastoma present with symptoms of epidural compression (EC). More than half these patients are diagnosed in the first year of life. The case of a neuroblastoma presenting symptoms of EC at birth is exceptional and deserves to be reported. Case presentation: We describe a case of female born at the 36th week of pregnancy by caesarian section decided following ultrasonographic discovery of oligohydramnios. At birth, she was noted to have motor deficit involving both legs and continuous urinary dripping. These symptoms were found to be secondary to a paraspinal neuroblastoma infiltrating the spinal canal. Tumor responded well to chemotherapy, but neurologic deficit only slightly improved and bladder dysfunction remained unchanged. At 2 years of age, patient is able to walk with help of leg orthoses, suffers chronic constipation requiring daily medications, and has neurologic bladder necessitating multiple daily catheterizations. Conclusions: The finding of a newborn presenting with symptoms of EC secondary to a neuroblastoma invading the spinal canal is quite uncommon. The case described herewith confirms that these rare patients have an excellent survival probability, but almost always develop severe functional sequelae. [ABSTRACT FROM AUTHOR]

Neuroblastoma is the most common extracranial solid tumor in children. Abnormal secretion of catechol-amines in tissues and body fluids allows for the differential diagnosis of neuroblastoma from other neoplasms and its distinction from non-neoplastic inflammatory diseases. This is achieved by assaying homovanillic acid and 4-hydroxy-3-methoxymandelic acid, the catabolites of catecholamine metabolism. In the course of an evaluation of children with suspected neuroblastoma, homovanillic acid and 4-hydroxy-3-methoxymandelic acid were analyzed in urine samples by capillary gas chromatography with flame ionization detection after extraction and derivatization of these compounds as trimethylsilyl derivatives. In three urine samples a significant increase in biogenic amines was observed, but these results were not confirmed by thin-layer chromatography. Patient history revealed that these children had been treated with ibuprofen, an analgesic and anti-inflammatory drug. To verify how ibuprofen or its metabolites may have interfered with capillary gas chromatography with flame ionization detection, we analyzed the same samples by capillary gas chromatography-mass spectrometry. In urine samples from patients on the drug, the presence of a peak identified as the trimethylsilyl ester of hydroxyibuprofen, which had the same retention time as 4-hydroxy-3-methoxymandelic acid, was found to interfere with the capillary gas chromatography with flame ionization detection analysis of the metabolite. This interference must be taken into account during the laboratory diagnosis of neuroblastoma. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the histological, immunohistochemical and molecular features of a series of children with neuroblastic tumors (NTs) and opsoclonus-myoclonus syndrome (OMS). Of 1187 children (age 0-15 years) with previously untreated NTs registered between 1979 and 1995, 15 (1.3%) had OMS at presentation. The majority of patients showed favorable biological characteristics, such as lack of amplification of the neuroblastoma-associated avian myelocytomatosis homolog MYCN oncogene and aneuploid nuclear DNA content. Tumor histology was reviewed according to the International Neuroblastoma Pathology Classification. Histology of the 15 cases of NTs with OMS was ganglioneuroblastoma, intermixed, in 10 patients; ganglioneuroma, maturing, in 1; and neuroblastoma in 4. Of 15 tumors, 12 (10 ganglioneuroblastomas, 2 neuroblastomas) showed abundant interstitial or perivascular lymphoid infiltrates, the latter often organized in secondary lymphoid follicles. The three remaining cases had only minimal infiltrates. A review of 91 cases of age- and stage-matched neuroblastic tumors not associated with OMS tested as controls showed that the degree of lymphoid infiltration was significantly lower than that detected in OMS-related tumors. Furthermore, lymphoid follicles were always present in the latter tumors, whereas they were detected only in a few ganglioneuroma, intermixed tumors from the control group. In conclusion, ganglioneuroblastoma, intermixed subtype, lack of MYCN amplification, aneuploid DNA content and presence of lymphoid infiltrates may contribute to favorable prognosis in NTs associated with OMS. [ABSTRACT FROM AUTHOR]

Describes the case of a girl with hip pain and leg weakness. Diagnosis of the girl's condition; Information on benign or functional diseases such as discopathies; Evidence of spinal cord compression; Importance of immunohistochemical stains in diagnosing Hodgkin lymphoma.

Background: Infants diagnosed with stage 4 s neuroblastoma commonly experience spontaneous disease regression, with few succumbing without response to therapy. We analyzed a large cohort of such infants enrolled in the Italian Neuroblastoma Registry to detect changes over time in presenting features, treatment and outcome. Methods: Of 3355 subjects aged 0–18 years with previously untreated neuroblastoma diagnosed between 1979 and 2013, a total of 280 infants (8.3%) had stage 4 s characteristics, 268 of whom were eligible for analyses. Three treatment eras were identified on the basis of based diagnostic and chemotherapy adopted. Group 1 patients received upfront chemotherapy; Group 2 and 3 patients underwent observation in the absence of life-threatening symptoms (LTS), except for Group 3 patients with amplified MYCN gene, who received more aggressive therapy. Results: The three groups were comparable, with few exceptions. Ten-year overall survival significantly increased from 76.9 to 89.7% and was worse for male gender, age 0–29 days and presence of selected LTS on diagnosis, elevated LDH, and abnormal biologic features. Infants who underwent primary resection ± chemotherapy did significantly better. On multivariate analysis, treatment eras and the association of hepatomegaly to dyspnea were independently associated with worse outcome. Conclusions: Our data confirm that stage 4 s neuroblastoma is curable in nearly 90% of cases. Hepatomegaly associated to dyspnea was the most important independent risk factor. The cure rate could be further increased through timely identification of patients at risk who might benefit from surgical techniques, such as intra-arterial chemoembolization and/or liver transplantation, which must be carried out in institutions with specific expertise. [ABSTRACT FROM AUTHOR]